Genetic Witness: Forensic Uses of DNA Tests

July 1990

OTA-BA-438

NTIS order #PB90-259110
Recommended Citation:

U.S. Congress, Office of Technology Assessment, Genetic Witness: Forensic Uses of DNA

Tests, OTA-BA-438 (Washington, DC: U.S. Government Printing Office, July 1990).

For sale by the Superintendent of Documents

U.S. Governrnent Printing Office, Washington, DC 20402-9325

(Order form can be found in the back of this report.)
Foreword

Many criminal and civil trials revolve around scientific evidence, but rarely does such

evidence elicit the response received by DNA tests. Since November 1987, when a Florida

criminal conviction based on DNA typing received national attention, interest in using DNA

tests in crime laboratories throughout the country has soared, as have civil liberties concerns.

Although forensic applications of DNA analysis involve technologies familiar in biological

research laboratories and clinical practice, their transfer to forensic laboratories and the courts

has just begun. This relatively quick movement of DNA typing into a public arena with life

and death consequences, and its continuing, rapid evolution, spurred congressional interest in

forensic DNA analysis.

Genetic Witness: Forensic Uses of DNA Tests was requested by the Senate Committee

on Labor and Human Resources. It illustrates a range of options for action by the U.S.

Congress on five policy issues:

. standards for forensic uses of DNA typing;

● funding of crime laboratories, forensic personnel training, and forensic research;

. the advisability of establishing computer databanks of DNA test results;

. standardization of DNA analysis for improved data collection; and

. privacy considerations of collecting, using, and storing DNA data or samples.

In gathering information for this study, OTA staff visited public and private laboratories

in seven States and the District of Columbia. Hundreds of individuals representing the array

of scientific, legal, and ethical interests assessed by this report cooperated with OTA through

interviews, by providing written material, and by critiquing initial drafts. OTA prepared this

report with the assistance of a panel of advisors and reviewers selected for their expertise and

diverse points of view on the issues covered by the assessment. These authorities were drawn

from academia, industry, and professional societies, as well as Federal, State, and local

agencies. They included members of the scientific, law enforcement, forensic, and legal

communities. OTA gratefully acknowledges the contribution of each of these individuals; as

with all OTA reports, responsibility for the content is OTA’s alone.

Highly touted initially and formerly used with limited scrutiny, DNA tests are now being

subjected to closer inspection by scientific, legal, and law enforcement experts. Today’s

debate focuses on what standards and additional quality control may need to be used in

forensic DNA testing, but no scientific doubt remains that technologies already available can

accurately detect genetic differences between humans. Recombinant DNA technologies are

new, powerful tools to clear the innocent and convict the guilty.

John H. Gibbons

. . . Ill
Genetic Witness: Forensic Uses of DNA Tests

Advisory Panel

C. Thomas Caskey, Panel Chair

Baylor College of Medicine

Michael L. Baird

Lifecodes Corp.

Valhalla, NY

W. Gray Buckley

Colorado Bureau of Investigation

Denver, CO

Robert L. Dean

Office of the State’s Attorney

Montgomery County

Rockville, MD

Henry A. Erlich

Cetus Corp.

Emeryville, CA

Lisa Forman

Cellmark Diagnostics

Germantown, MD

Armando Garcia

Attorney-at-Law

Redwood City, CA

Janlori Goldman

American Civil Liberties Union

Washington, DC

Eric S. Lander

Houston, TX

Henry C. Lee

Forensic Science Laboratory

Connecticut State Police

Meriden, CT

Charles J. Ogletree

Harvard Law School

Cambridge, MA

The Honorable Haskell M. Pitluck

State of Illinois 19th Judicial Circuit

Woodstock, IL

Gloria H. Reynolds

Crime Laboratory

Detroit Department of Police

Detroit, MI

Douglas P. Rutnik

Office of the Public Defender

Albany County

Albany, NY

Robert E. Stevenson

American Type Culture Collection

Rockville, MD

Willard Carl Stuver

Crime Laboratory

The Whitehead Institute for Biomedical Research Metro-Dade Police Department

Cambridge, MA Miami, FL

George B. Trubow

The John Marshall Law School

Chicago, IL

NOTE: OTA appreciates and is grateful for the valuable assistance and thoughtful critiques provided by the advisory panel members. The panel does

not however, necessarily approve, disapprove, or endorse this report. OTA assumes full responsibility for the report and the accuracy of its

contents.

iv
OTA Project Staff—Genetic Witness: Forensic Uses of DNA Tests

Roger C. Herdman, Assistant Director, OTA

Health and Life Sciences Division

Gretchen S. Kolsrud, Biological Applications Program ManagerJ

Robyn Y. Nishimi, Project Director

Kevin W. O’Connor, Legal Analyst

Holly L. Gwin, Legal Analyst

Margaret A. Anderson, Analyst

Support Staff

Cecile Parker, Office Administrator

Linda Rayford-Journiette, Administrative Secretary

Jene Lewis, Secretary

Sharon Kay Oatman, Administrative Assistant2

Publishing Staff

Katie S. Boss, Publishing Officer

Chip Moore, Publishing Assistant

Debra Datcher Cheryl Davis

Dorinda Edmondson Steve Kettler

Christine Onrubia Ted Williams

Susan Zimmerman

Editor

Linda Starke (Contractor), Washington, DC
Contents

Page

Chapter 1. Summary, Policy Issues, and Options for Congressional Action . . . . . . . . . . . . . . . . . . . 3

Chapter 2. The Technologies and Their Applications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41

Chapter 3. Validity, Reliability, and Quality Assurance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59

Chapter 4. DNA as Evidence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .91

Chapter 5. Computer Technology and Informational Privacy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113

Chapter 6. DNA Typing by Federal, State, and Local Crime Laboratories . . . . . . . . . . . . . . . . . 141

Appendix A. Reported Uses of DNA Testing in Criminal Investigations and Proceedings . . . 157

Appendix B. Survey Instrument for OTA Survey of State & Local Crime Laboratories . . . . . 173

Appendix C. Acknowledgments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 179

Appendix D. Acronyms and Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183

Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 189
Chapter 1

Summary, Policy Issues, and

Options for Congressional Action

“Positive identification by DNA profiling is fact. It is not subjective. It is not influenced by the

vagaries of human emotion. ”

William S. Sessions

Director, Federal Bureau of Investigation

Feb. 20,1989

“DNA fingerprinting is all but foolproof, but some fool is going to use it.”

anonymous, August 1989

.
CONTENTS

Page

TERMINOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

DNA AND HOW IT DIFFERS FROM PERSON TO PERSON . . . . . . . . . . . . . . . . . . . . . . 3

THE ROLE OF DNA TYPING IN FORENSIC IDENTIFICATION . . . . . . . . . . . . . . . . . . 6

ARE DNA TESTS VALID AND RELIABLE? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7

STANDARDS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

QUALITY ASSURANCE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

DNA IN COURT . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

ADVANTAGES AND LIMITATIONS OF DNA TYPING AS EVIDENCE . . . . . . . . . .

COMPUTER TECHNOLOGY AND DNA IDENTIFICATION . . . . . . . . . . . . . . . . . . . . . .

PRIVACY AND CIVIL LIBERTIES CONSIDERATIONS . . . . . . . . . . . . . . . . . . . . . . . . . .

DNA TYPING IN THE UNITED STATES: CURRENT PRACTICE

AND FUTURE OUTLOOK . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

THE ROLE OF CONGRESS AND POLICY ISSUES AND OPTIONS . . . . . . . . . . . . . .

Quality Assurance and Standards . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Funding for Forensic Sciences . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Advisability of a Databank . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Standardization for Databanking . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Privacy Considerations . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Boxes

10

11

14

17

18

21

23

26

27

30

32

34

35

Page

l-A. The Leicester Case: DNA’s Criminal Debut . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8

I-B. Quality Assurance and Drug Testing Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

l-C. Quality Assurance and Clinical Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . ,. .,., . . . . 13

l-D. Uses of Forensic DNA Tests Internationally . . . . . . + . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24

l-E. What Does DNA Typing Cost? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .● . . . . . . . . . . . . . . 25

1-14

1-2.

1-3.

1-4,

1-5.

1-6.

1-7.

1-8,

1-9.

1-1o.

1-11.

Figures

Page

The DNA Double Helix . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +. . . . . . . . . . . . 3

DNA Patterns From 12 Individuals . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4

Detailed Schematic of Single-locus Probe RFLP Analysis . . . . . . . . . . . . . . . . . . . . . . . 5

The Polymerase Chain Reaction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6

Example of One DNA Pattern in a Rape Case . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7

DNA Typing in Two Paternity Cases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. ...,., 9

DNA Typing and Murder: A Less Than Ideal First Analysis and a Solution . . . . . 11

Sources of DNA Evidence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15

DNA Typing: Reported Uses and DNA Databank Legislation by State . . . . . . . . . . 16

How a Database of DNA Information Could Be Created and Used . . . . . . . . . . . . . . 19

Proposed Data Files: Who Will Maintain Them? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20

Tables

Page

1-1.

1-2.

1-3.

1-4.

Number of DNA Cases by State . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15

State Laws To Establish Computer Files of Known Offender Genetic Patterns . . . . 20

Costs for Forensic DNA Testing by Private Laboratories . . . . . . . . . . . . . . . . . . . . . . . . 25

Suggested FBI Roles in DNA Testing ... .+.. . . . . . . . . . . . . ...,....,......*.*.,. , 26
Chapter 1

Summary, Policy Issues, and Options for Congressional Action

Genetic uniqueness is a fact of life. From

generation to generation, characteristics are

inherited, combined, assorted, and reasserted

among individuals through a common denominator: the chemical deoxyribonucleic acid, or

DNA. And, except in the case of identical twins,

no two humans share the same DNA sequence.

This report is about technologies used to

distinguish the DNA among individuals. It is

about techniques to identify and prosecute violent criminals, as well as exonerate innocent

persons who are suspects in criminal cases. To

a lesser extent, it is about applications that use

the same techniques to determine parentage or

identify and reunite missing children with relatives. Undertaken at the request of the Senate

Committee on Labor and Human Resources,

this assessment evaluates the scientific, legal,

and ethical issues surrounding forensic applications of DNA tests: the validity and reliability

of DNA tests for forensic casework, quality

assurance and standards for DNA analysis by

forensic laboratories, the legal basis for the

admissibility of such tests in courts of law,

privacy and civil liberties concerns about collecting, using, and storing genetic information

and material, and criminal justice interest in

employing DNA tests at the Federal, State, and

local level.

TERMINOLOGY

Forensic science involves the application of

many scientific expertise (e.g., biology, chemistry, toxicology, medicine) to situations concerned with courts of justice or public debate.

This report uses the term forensic applications to

refer to potential uses of recombinant DNA

technologies to identify individuals.

The increased acceptance and popularization

of recombinant DNA techniques for forensic

uses, especially criminal investigations, have

led to some confusing terminology. In particular, some commentators have adopted the terms

“genetic fingerprinting,” “DNA fingerprinting , or “DNA prints” as generic phrases to

describe all techniques, while others use the

terms to describe specific techniques by specific

companies. This report uses the terms DNA

testing, DNA identification, DNA analysis, DNA

typing, and DNA profiling to describe the two

current and any future technologies, the practical goal of which is unique association or

exclusion determined by DNA-based tests.

DNA AND HOW IT DIFFERS FROM

PERSON TO PERSON

As the chemical dispatcher of genetic information, DNA’s structure resembles a twisted ladder, referred to as a double helix (figure l-l).

DNA in all organisms consists, in part, of four

chemical subunits commonly called bases. These

four bases—guanine (G), adenine (A), thymine

(T), and cytosine (C)—are the genetic alphabet.

Their unique order, or sequence, in the DNA

helix serves as the blueprint for an organism. Of

the 3.3 billion base pairs making up a human

Figure l-l—The DNA Double Helix

SOURCE: Office of Technology Assessment, 1990.

–3-
4 ● Genetic witness: Forensic Uses of DNA Tests

Figure 1-2—DNA Patterns From 12 Individuals

‘

In this mock-up to demonstrate that DNA patterns differ among individuals, blood samples were obtained from 12 different people and RFLP

analysis performed using 1 single-locus probe. Although some individuals do share 1 band in common, all 12 exhibit different patterns

overall

SOURCE: Federal Bureau of Investigation, 1989.

blueprint, only a fraction—approximately 3

million—differ between any two individuals.

Several methods to detect DNA differences

exist; the majority of DNA tests currently used

in forensic applications detect some of these

differences through DNA probes that reveal size

variations. Scientists measure these size distinctions between people through a process called

restriction fragment length polymorphism (RFLP)

analysis (figures 1-2 and 1-3)1. Although the

specific protocols used for RFLP analysis vary

from laboratory to laboratory, the vast majority

of forensic casework carried out today involves

this basic approach.

Another technology, polymerase chain reaction (PCR), can be thought of in some respects

as molecular photocopying (figure 1-4). PCR

itself is not used to directly analyze DNA, rather

it makes possible the application of other techniques when only minute biological specimens

are available. PCR allows a scientist to take a

sample of what ordinarily would be insufficient

DNA to assess, and reproduce it until enough

DNA copies are available for examination by a

number of technologies, including RFLP analysis. Chapter 2 describes details of RFLP analysis

and PCR.

DNA is found in all body cells except red

blood cells. (Blood contains many cell types in

addition to red blood cells, such as white blood

cells, and it is from these cells that DNA can be

obtained when forensic evidence is a bloodstain.) With few exceptions, the composition of

a person’s DNA does not vary from cell to cell,

except in egg and sperm cells, which have half

the complement of DNA present in other body

cells. (Although DNA content differs from

sperm to sperm, a DNA profile of semen-e. g.,

from evidence in a rape case—is a composite of

thousands of DNA molecules from thousands of
Chapter I-Summary, Policy Issues, and Options for Congressional Action ● 5

Figure 1-3—Detailed Schematic of Single-locus Probe RFLP Analysis

Intact DNA is chemically

extracted from the sample

scissors and cut the DNA

into fragments

Each individual restriction

enzyme cuts at its own

specific sequence

chain

c

( J

smaller +

B The DNA fragments are

separated by size into

bands in a gel

Gel

(screening by size)

Nylon BLOTTING -

The DNA fragments are

onto a nylon membrane

(Southern blotting)

SOURCE: Office of Technology Assessment, 1990,

Single-locus probes with

varied sequences exist and

with areas of specific DNA.

One single-locus probe

is made radioactive,

Many copies of the probe

are used to combine with

a specific DNA sequence

on the nylon membrane.

key

PROBE

Radioactive single

image the radioactive probe pattern.

Using different probes in sequence demonstrates

whether the specimen sample matches the suspect type.

membrane

probe 2

CONTINUE...

SINGLE-LOCUS PROBE PATTERN

Suspect Victim Evidence

When using single-locus

probe analysis one must

use different probes

to obtain identity.
6 ● Genetic Witness: Forensic uses of DNA Tests

Figure 1-4—The Polymerase Chain Reaction

Individual A Individual B Unknown C

-/- .- - - - - -\-Denature and Synthesize

DOT BLOT

Membrane

7

The amplified DNA is

spotted onto a membrane

in a color developer

SOURCE: Office of Technology Assessment, 1990.

sperm and therefore reflects a man’s overall

profile (figure 1-5).) Thus a scientist can examine DNA from blood or tissue from a hair root

and, if the specimens are from the same person,

find the same DNA banding pattern. Similarly,

patterns can be matched between DNA isolated

from sperm on a vaginal swab or a semen stain

and a known blood sample from a suspect.

THE ROLE OF DNA TYPING IN

FORENSIC IDENTIFICATION

Traditional genetic markers, such as ABO

blood groups, have been used in forensic casework since the turn of the century. Conventional

markers available to forensic analysts provide

the potential for a high degree of discrimination

among different individuals, but the upper limit

is attained infrequently, in part because of the

instability of some of these markers in dried and

aged evidence stains. Thus, in practice, the

individualization of many evidentiary stains

cannot be carried out to any great extent given

the present array of conventional serological

landmarks. In general, traditional genetic tests

used in forensic casework also, at best, can

associate an unknown sample with a suspect

specimen at a level of 90 to 95 percent inclusion.

Forensic applications of DNA tests involve

two components: molecular biology and population genetics. Molecular biological techniques

allow analysts to directly examine the material

responsible for heritable differences among

humans, i.e., DNA. Population genetics, also a

part of traditional forensic genetic testing, is

used to interpret DNA tests to approximate the

degree to which two samples are associated by

greater than random chance. Like traditional

genetic tests, DNA typing is used in the forensic

context to determine whether biological material from a known individual can be linked to a

sample from an unidentified specimen (i.e.,

whether the individual can be included in or

excluded from the population of humans who

could have deposited the biological material).

Yet unlike traditional genetic testing, DNA

typing technologies—one of which was first

used in a criminal case in the United Kingdom
Chapter l--Summary, Policy Issues, and Options for Congressional Action ● 7

Figure 1-5—Example of One DNA Pattern

in a Rape Case

* $

i

2 ~

Biological evidence from this rape case was separated by

laboratory techniques into separate male and female fractions.

After RFLP analysis of these fractions and known samples

obtained from the victim and suspect, the results reveal that—for

this particular probe-the DNA pattern of the male fraction

matches the pattern of the suspect.

SOURCE: Federal Bureau of Investigation, 1989.

(box 1-A)—have been heralded as forensic tools

that will change the judicial landscape.

It is the population dynamics of DNA markers that separates it from the use of conventional

genetic markers in forensic analysis. With DNA

markers, much greater variation exists and can

be detected—hence their potential for what

amounts to statistical individualization when a

combination of markers is examined. That is,

because the assortment of genetic markers detected by DNA tests is great, a sufficiently

detailed examination of DNA patterns can yield

a result that effectively amounts to a positive

identification between a questioned sample and

a suspect sample. By the same token, because

DNA markers do vary so much, exclusion of

innocent suspects can be easier to achieve.

Forensic DNA analysis can provide more definitive and objective evidence to ascertain

the innocence or guilt of an individual—

especially compared to subjective evidence

such as eyewitness testimony.

Forensic applications of DNA techniques are

not limited to criminal investigations. Their use

in parentage testing (figure 1-6), the identification of unknown remains, human rights abuses,

and immigration has been successful. And as

more information is gained through genetic

research, including efforts to map and sequence

the human genome, the range of applications, of

information gained, and of technologies involved in forensic uses of DNA tests is likely to

increase.

ARE DNA TESTS VALID AND

RELIABLE?

An important matter in the use of DNA for

forensic casework is whether the detection

methods are scientifically valid. Validity is the

probability that a test will correctly identify true

matches and true nonmatches. For RFLP analysis, validity centers on whether the test yields the

correct RFLP pattern. A valid test or set of tests

in criminal applications, for example, would not

falsely classify or exclude a subject by yielding

a profile not true to type.

A second, but equally important aspect of

DNA testing of forensic samples is reliability.

Reliable tests measure reproducibly that which

they are capable of measuring under defined

conditions of use. Reliable methods must perform reproducibly within a laboratory, across

multiple laboratories, and in the hands of disparate practitioners. Reliability involves several

factors, including the procedures used, laboratory performance, laboratory recordkeeping, and

quality control and quality assurance.

Genetic and molecular principles underlying

DNA identification are solid and can be applied

to DNA isolated from forensic evidence. The

Office of Technology Assessment (OTA) finds

that forensic uses of DNA tests are both

reliable and valid when properly performed
8 ● Genetic Witness: Forensic Uses of DNA Tests

Box I-A—The L.eicester Case: DNA’s Criminal Debut

On November 21,1983, Lynda Mann, 15 years old, was sexually assaulted and killed on an isolated footpath

in the small English county of Leicestershire. Semen recovered from an internal labial swab and a deep vaginal swab

was tested. The blood tests could not positively identify the killer, and the scientific label ‘Group A secretor, PGM

1+,” a blood type shared by just 10 percent of the population, was the only clue police had.

The police went to every residence in three nearby villages filling out a pro forma document on male residents

between the ages of 13 and 34 (an arbitrary range). Patient records from the local psychiatric hospital were also

carefully examined. The local newspaper published appeals for help, leading to many tips, all of which proved

useless. The investigation team started out with 150 officers, dropped to 8 by May, and was disbanded in August

1984. One-hundred-and-fifty blood tests on potential suspects were performed with no positive results.

In a neighboring village, 15-year-old Dawn Ashworth was similarly slain on July 31, 1986. Police assumed

this was a serial murder, and semen was recovered from a vaginal swab and a clothing stain.

On August 8, 1986, police arrested 17-year-old Richard Buckland, a kitchen porter from the psychiatric

hospital, for Ashworth’s murder. Buckland had a history of sexual behavior that would fit the pattern presumed for

the murderer and had kmown the victim. After prolonged questioning, he made a graphic confession to killing

Ashworth.

At this point, the police officer charged with investigating Mann’s murder decided to try to connect Buckland

to her death. He delivered the semen samples taken from Mann and Ashworth and blood from Buckland to Dr. Alec

Jeffreys at Leicester University. Jeffreys, well known because of a highly publicized immigration case in which he

applied his new technique of “DNA fingerprinting, “ accepted the request for assistance. He concluded that both

girls were raped by the same man, and that Buckland was not the perpetrator. On Nov. 21,1986, Buckland became

the first accused murderer in the world to be set free as a result of a DNA test.

A new inquiry to investigate both murders began immediately, and on January 2, 1987, police announced a

“revolutionary step”—a campaign of voluntary blood testing for every mate resident in the three villages. Men

were requested by form letter to appear at a certain time for sampling. Collected blood and saliva was first tested

for PGM 1+, A secretor characteristics; any blood meeting these criteria was forwarded to Jeffreys for the DNA test.

The police made “house calls” on those men who failed to appear. English civil liberties experts expressed concerns

about coercion and the ultimate disposition of test results.

Colin Pitchfork received his notice to appear that January and told his wife he was afraid to give blood because

of his criminal record for flashing. Pitchfork eventually convinced a coworker, Ian Kelly, to give under Pitchfork’s

name using a falsified identity card, and Pitchfork received notification of a negative test.

By May 1987, the police had taken samples from 3,653 men and boys, a 98 percent response rate, but had not

found the killer. In August, Kelly admitted his act of deception to other coworkers, one of whom had also been

approached by Pitchfork. Six weeks later the police were informed and Kelly was arrested. Pitchfork confessed to

both murders on his subsequent arrest in September 1987.

Pitchfork received a double life sentence for the murders, a 10-year sentence for each of the rapes, 3 years each

for two earlier sexual assaults, and 3 years for conspiracy, all to be served concurrently. The concurrent sentences

mean he could be released within 10-12 years. At sentencing, the judge noted that without DNA testing, Pitchfork

might still beat large.

and analyzed by skilled personnel. Molecular about the reliability of DNA testing, however,

genetics techniques can accurately disclose DNA have been raised in a few cases. Challenges to

patterns that reflect DNA differences among the reliability of DNA tests will mount unless

humans. Questions about the validity of DNA the issue of standards is addressed.

typing-either the knowledge base supporting

technologies that detect genetic differences or The validity of forensic DNA tests does not

the underlying principles of applying the tech- hinge on population genetics. Interpretation of

niques per se—are red herrings that do the courts test results, however, depends on population

and the public a disservice. Critical questions frequencies of the various DNA markers (for
Chapter I-Summary, Policy Issues, and Options for Congressional Action . 9

Figure 1-6—DNA Typing in Two Paternity Cases

Af’2
10 ● Genetic Witness: Forensic Uses of DNA Tests

RFLP analysis, the size of the band in a particular test). In other words, population genetics

provides meaning—numerical weight—to DNA

patterns obtained by molecular genetics techniques. Given any set of patterns, or just two

patterns, that match, population frequencies are

used to report the frequency of such an event

arising; they are key to establishing confidence

in associating an unknown evidence pattern with

that of a suspect—for example, whether 1 in 30

billion, 1 in 2 million, 1 in 50, or 1 in 10 random

individuals could be expected to share that test

result. That scientific principles of population

genetics can be applied to forensic DNA

analysis is not in question, but how best to

apply which principles to RFLP analysis is

under debate. Disagreement exists as to the

extent such debate can or should be resolved.

General agreement does exist that any potential

bias that could result from calculating population frequencies favor a defendant. Some argue,

however, that the magnitude of the number is

not the issue, just that the analyst assigns it with

scientifically valid confidence. Others argue

that because of the pivotal role population

frequencies can play in reporting results of

forensic DNA tests, agreement is necessary.

STANDARDS

Although consensus exists that the power of

DNA typing technologies to theoretically individualize is valid and reliable, a constellation of

recommendations are offered on how best to

implement forensic uses of DNA tests. These

opinions focus on the most effective way of

minimizing realistic technical variability, human

error, and the vagaries of working with specimens obtained under less than ideal conditions

(figure 1-7). Such differences underscore the

urgent need to develop both technical and

operational standards. Setting standards for

forensic applications of DNA testing is the

most controversial and unsettled issue. Standards are necessary if high-quality DNA

forensic analysis is to be ensured, and the

situation demands immediate attention.

Leaving the issue of standards unresolved places

a burden on all parties involved in forensic DNA

analysis. Undoubtedly some queries will still

arise on a case-by-case basis, and at such times

specific details can and should be evaluated in

court. Given time and the implementation of

standards, such questions are likely to decrease.

The Federal Bureau of Investigation (FBI),

industry, research molecular biologists, population geneticists, and forensic scientists agree

that standards are desirable. For many matters,

however, little agreement exists on who should

decide, what standards are best, and how to

achieve and implement them. OTA identified

two types of standards: technical and operational. The former include such issues as proper

reagents and gel controls; electrophoresis conditions; rules to match DNA banding patterns; the

extent that computer-assisted matching should

be permitted; and population data to compute

the likelihood of matches. Operational standards

include elements such as recordkeeping and

proficiency testing; they are likely to be more

controversial than technical standards, for historically, attempts to regulate laboratory practices in any sector have met with resistance.

(Quality assurance most directly addresses many

issues in operational standards and is discussed

in the following section.)

Technical standards that allow flexibility for

laboratory-to-laboratory variations need to be

evaluated. Clearly defined rules and procedures—

objective and scientifically based—should be

established, set, and, most importantly, followed. One critical area lacking full agreement

is that of declaring matching patterns in RFLP

analysis. For example, calling a match or nonmatch can be difficult if a pattern in the evidence

is similar, but off-set, or shifted, compared to a

suspect sample. Agreement is desirable on what

the best, and the minimal, mechanisms are to

control for potential anomalies so that data

interpretation is still possible if situations such

as band-shift arise in a particular case. With

PCR, minimum standards and controls to avoid

contamination that could lead to erroneous

interpretation should be determined.
Chapter I--Summary, Policy Issues, and Options for Congressional Action . 11

Figure 1-7—DNA Typing and Murder: A Less Than Ideal First Analysis and a Solution

I @

used as evidence to prove guilt or innocence.

SOURCE: Federal Bureau of Investigation, 1989.

Decisions about standards in forensic applications of DNA tests need to be made within the

constraints of performing DNA analysis on case

samples, but achieved without compromising

scientific and technical integrity. For example,

some feel that mixing tests (used to determine if

two apparently identical RFLP samples that are

run side-by-side actually run as one when

mixed) are critical. Others strongly feel alternative controls provide enough safeguards and that

mixing tests are impractical for most forensic

casework—particularly when material may be

limited.

QUALITY

Quality assurance

ASSURANCE

mechanisms in forensic

uses of DNA profiling encompass a range of

options, including certification, licensing of

facilities and personnel, accreditation, recordkeeping, and proficiency testing. Professional societies, State and local Governments, and the

Federal Government all have or could have roles

in ensuring high-quality forensic DNA typing

services. Similarly, numerous methods are available to these entities to implement an assortment

of options.
12 ● Genetic witness: Forensic Uses of DNA Tests

Professional societies can set informal standards and encourage voluntary compliance, and

several organizations have developed or are

developing guidelines for quality assurance for

forensic applications of DNA tests. Many professional societies have a stake in quality assurance of DNA typing for forensic applications,

and cooperation between them could be a

powerful mechanism to ensure high-quality

analysis. On the other hand, because such efforts

are voluntary, some criticize current optional

programs as insufficient, and note that professional society membership or claims of adherence to different professional guidelines can

sometimes confuse lay observers and should not

be viewed as the ultimate imprimatur of quality

assurance. For forensic science, only one voluntary accreditation program is offered—by the

American Society of Crime Laboratory Directors.

Box l-B-Quality Assurance and

Drug Testing Laboratories

Drug testing of employees and job applicants has

become increasingly commonplace. The dramatic

increase in testing facilities to handle samples has

spawned concern about ensuring that sufficient care

is taken so that those tested are not harmed by

poor-quality tests or inadequate quality assurance

policies or quality control procedures. In 1988, the

General Accounting Office surveyed all 50 States

on the nature of laws, regulations, and other legally

enforceable provisions in effect that would govern

quality assurance of drug testing laboratories. The

survey revealed that no uniform system exists to

regulate laboratories doing employee drug testing.

Some States do have formal mechanisms specific

for quality assurance oversight of drug testing

facilities. Others regulate laboratories that perform

employee drug analysis through general medical or

clinical laboratory statutes. Still others voluntarily

adhere to standards prescribed by various professional associations. Some do not control such

services at all.

The executive branch has moved to improve

results from laboratories providing employee drug

testing services (53 FR 11970, Public Law 100-71).

Congress also is interested in ensuring quality in

laboratories that do employee drug testing, Legislation considered during the 100th Congress would

have required proficiency testing and certification

by the U.S. Department of Health and Human

Services for all facilities engaged in urinalysis and

blood analysis for employee drug testing. Similar

legislation is pending in the 101st Congress.

SOURCE: OffIce of Technology Assessment 1990.

In addition to the role professional societies

can play, States have the authority to regulate

DNA typing by both public and private laboratories. Presently, no State has enacted general

licensing requirements for private laboratories,

crime laboratories, or personnel performing

DNA analysis on forensic specimens, although

a September 1989 report by a special commission appointed in New York made recommendations in each of these areas. (In contrast, all 50

States and the District of Columbia require that

public and private hospitals be licensed, although the scope of the laws varies considera- examination and evaluation of forensic DNA

bly.)

The Federal Government has broad authority

to direct that solutions be found for quality

assurance issues surrounding forensic uses of

DNA tests. Federal leadership can focus on

nonregulatory mechanisms, or Congress and the

executive branch could move to directly regulate crime laboratories, as it has for drug testing

facilities (box l-B) and clinical laboratories

(box l-C). Some feel, however, that legislation

like the Clinical Laboratory Improvement Amendments of 1988 (CLIA) (Public Law 100-578) is

more a short-term solution—that, in fact, court

conflict, as is presently occurring, sharpens the

typing and will ultimately ensure quality by

defining its boundaries. Moreover, questions are

raised whether high-quality necessarily follows

from mandatory regulation.

Nonregulatory Federal efforts could focus on

authorizing additional efforts for research in

forensic sciences, particularly cross-disciplinary projects that apply newly emerging basic

research tools to real-world casework. Other

nonregulatory Federal initiatives can encourage

the use of consensus conferences to develop and

recommend protocols for quality assurance.

This role in particular, perhaps modeled after the

existing National Institutes of Health (NIH)
Chapter I--Summary, Policy Issues, and Options for Congressional Action ● 13

Box l-C-Quality Assurance and Clinical Laboratories

In October 1988, Congress passed sweeping legislation that subjects clinical laboratories to a number of

requirements, including qualifications for the laboratory director, standards for the supervision of lab testing,

qualifications for technical personnel, management requirements, and an acceptable quality control program. Prior

to enacting the Clinical Laboratory Improvement Amendments of 1988 (CLIA) (Public Law 100-578), Federal

regulations covered the approximately 13,000 labs that either transported samples between States or performed tests

billed to Medicaid and Medicare. Beginning in 1990, however, the Health Care Financing Administration (HCFA)

of the U.S. Department of Health and Human Services (DHHS) wilt exercise sweeping regulatory authority over

clinical laboratories. HCFA will set standards for staffing and maintaining all medical laboratories, including

physician office testing. HCFA will also manage a comprehensive program to police the facilities and can impose

sanctions.

CLIA is at once broad, encompassing the estimated 98,000 physician labs, and specific. For example, the

Secretary of DHHS is to establish national standards for quality assurance in cytology services, including the

maximum number of cytology slides that any individual may screen in a 24-hour period. The Secretary is also

required to determine and implement recordkeeping, inspection, and proficiency testing programs, and to study and

report to Congress on a range of issues gauging the impact of various quality assurance mechanisms.

CLIA expands DHHS’s regulatory authority over clinical laboratories, and grants HCFA the power to suspend

or revoke a lab’s certificate for violation of the rules. Further, fines up to $10,000 for each violation or each day

of noncompliance can be levied, and jail sentences of 3 years can be imposed. The law continues to permit, subject

to approval by the Secretary, the involvement of State or private nonprofit associations (which at present include

the College of American Pathologists, the American Association of Bioanalysts, agencies in 3 States, the Joint

Committee on Accreditation of Healthcare Organizations, and the American Osteopathic Association) to substitute

for the Federal regulatory process.

Prior to CLIA’s enactment, one issue of critical concern to Congress was proficiency testing programs. Until

CLIA, such programs varied broadly in testing criteria and in grading of test results. Moreover, uniform or

minimally acceptable Federal standards did not exist. Now, except under certain circumstances, proficiency testing

shall be conducted on a quarterly basis, with uniform criteria for all examinations and procedures. The Secretary

shall also establish a system for grading proficiency testing performance.

SOURCE: Office of Technology Assessment 1990.

consensus conference process, could be effec- Another nonregulatory Federal initiative

tive in addressing outstanding controversies

surrounding forensic applications of DNA testing. Another structure, the NIH Recombinant

DNA Advisory Committee, could be used as a

model structure for Federal oversight or regulation of forensic DNA analysis.

One specific nonregulatory effort in place

involves the National Institute of Standards and

Technology (NIST) of the U.S. Department of

Commerce, a neutral Federal agency and the

only Federal laboratory with the explicit goal of

performing research in and providing reference

standards. As a significant part of quality assurance involves confidence in measurement standards, proposals put forth by NIST to examine

state-of-the-art gel electrophoresis, reagent quality, electrophoresis conditions, and evaluation

of size markers could be important.

presently under way is the FBI’s Technical

Working Group on DNA Analysis Methods

(TWGDAM), which among other issues is

examining quality assurance, population statistics, and databanking. Consisting of representatives of crime laboratories at or near implementation of DNA profiling techniques, as well as of

commercial laboratories, TWGDAM has been

praised by some as the nucleus around which

national expertise will develop. Other have

criticized it for being generally closed—by

invitation only—in its early stages of decisionmaking. Some, both within and outside the

forensic science community, are bothered that

any largely investigative and enforcement body

serve as the lead player in developing standards

in which it has a vested interest. For many,

TWGDAM represents the first step in a probable
14 ● Genetic Witness: Forensic Uses of DNA Tests

multistage process that will unfold as efforts to

ensure quality of forensic applications of DNA

typing develop.

Instituting quality assurance mechanisms

should proceed without delay. Accreditation,

licensing, and certification are among the mechanisms of quality assurance that could be applied

to facilities performing forensic DNA analysis.

Such initiatives individually, or as a package, do

not guarantee high-quality DNA typing, but

some effort appears necessary to assist private

laboratories, the Federal Government, courts,

and crime laboratories. Further, any program

must be flexible for two reasons: to address

the inherent variability of forensic casework

and to account for the evolution of existing

technologies and emergence of new ones.

These endeavors also must acknowledge that

introducing and maintaining formal quality assurance mechanisms can be costly and timeconsuming, and will place additional staffing

and financial burdens on public facilities already

overwhelmed with casework and historically

underfunded. And, while some argue that standardizing DNA typing is an additional layer of

quality assurance, standardization clearly is

most important to computer databanking issues

(discussed in a following section).

Finally, nothing is routine during the course

of a forensic investigation. Thus, no amount of

standardization, standard setting, or quality assurance can be substituted for appropriate interpretation and analysis by a forensic scientist

during the course of an individual case. Federal

leadership in providing adequate and proper

education and training, perhaps confirmed

through certification or licensing, would enhance forensic DNA analysis across the country,

although improved training and education

should not be viewed as substitutes for the

implementation of standards.

DNA IN COURT

In courtrooms, DNA testing is a recent and

highly touted evidentiary tool (figure 1-8). First

introduced into U.S. criminal proceedings in

1986, forensic DNA analysis has since been

admitted into evidence in at least 185 cases by

38 States and the U.S. military as of January 1, 1990 (table 1-1; figure 1-9). This number

does not reflect its even wider use in investigations that did not go to trial; although impossible

to precisely determine, OTA estimates that, to

date, DNA tests have been used by law enforcement in over 2,000 investigations. OTA found

DNA tests were used for criminal investigations and proceedings in at least 45 States and

the District of Columbia as of January 1,

1990. Nor do the numbers reflect the use of

DNA tests in thousands of paternity disputes

annually. Three private laboratories and the FBI

provided expert testimony in 216 criminal cases

as of January 1990. Court-appointed and privately retained experts, and State law enforcement personnel also have testified.

Although the admission of DNA testing in

courts is a new phenomenon, scientific evidence

is not. Both, however, present a special dilemma

because they usually involve technical information ‘‘beyond the ken” of the average citizen.

To address this situation, Congress, States, and

many courts have created standards governing

the admission of such information into evidence

in courts. Generally involving expert scientific

testimony, two rules address the admissibility of

scientific evidence, including DNA typing, into

U.S. courtrooms: The Frye test and the relevancy test. Both are designed to deduce, through

analysis and the testimony of expert witnesses,

whether the scientific test in question is reliable.

In addition, some States have passed specific

laws addressing the admissibility of certain

scientific techniques, for example, radar or

intoxication tests. As of January 1990, four

States, Maryland, Minnesota, Louisiana, and

Nevada, have passed laws addressing the admissibility of DNA typing.

Under the Frye standard, which is the oldest

and most often used test in determining the

admissibility of scientific evidence, courts admit

evidence based on a scientific technique only

when the technique has gained general acceptance in the relevant scientific community.
Chapter 1-Summary, Policy Issues, and Options for Congressional Action . 15

Figure 1-8—Sources of DNA Evidence

BONE (Marrow)

SOURCE: Office of Technology Assessment, 1990

Table l-l—Number of DNA Cases by Statea

State Number of cases
16 ● Genetic witness: Forensic Uses of DNA Tests

Figure 1-9—DNA Typing: Reported Uses and DNA Databank Legislation by State

● Reported use of DNA typing in that State as of January 1990 (see app. A).

Gray= Legislation proposing databanking of DNA information from certain convicted offenders,

Black= State law requires databanking of DNA information from certain convicted offenders.

First introduced in a United States criminal court case in 1986, DNA typing has since been applied in criminal investigations in at least 45

States and the District of Columbia as of January 1990. Interest in a means to store and exchange DNA test results across jurisdictional

boundaries is also increasing, as reflected by State legislation.

SOURCE: Office of Technology Assessment, 1990.

Although criticized because ‘‘general acceptance’ may not equate with scientific reliability,

proponents note that the Frye test guarantees a

minimal amount of support by experts for a

scientific test or procedure prior to allowing

cutting-edge technology into legal deliberations. Under the relevancy test, which is based

on the Federal Rules of Evidence originally

promulgated by the Supreme Court and affirmed

by the Congress in 1975 (Public Law 93-595),

scientific evidence is admissible if it is relevant

and helpful to the judge or jury hearing the case.

Among other conditions, the trier-of-fact must

have the technical expertise to assess properly

the reliability of the scientific testimony of the

expert witness (and the evidence thus be helpful). Applied in all Federal courts, the relevancy

test also serves as the standard for admissibility

of scientific evidence in non-Federal courts in

32 States.

The admissibility of DNA testing as evidence

under the Frye test v. the relevancy test is of

limited significance. The 185 cases identified

by OTA indicate that in using either criteria

courts find DNA typing technologies per se to

be generally accepted by the scientific community, or relevant and helpful to judges and

juries. No State court has found that DNA

testing per se fails to meet established tests

for admissibility, although in some cases the

admissibility of DNA evidence has been limited or barred. Although DNA currently intro-
Chapter I-Summary, Policy Issues, and Options for Congressional Action . 17

duced as evidence is evaluated case-by-case,

some argue that as more acceptance occurs a

carte blanche for the admissibility of DNA

typing evidence could soon be seen. Nevertheless, because aspects of forensic DNA analysis

are receiving increased scrutiny, future court

considerations will hinge on standards and

quality assurance in forensic applications of

DNA tests.

Even before determining whether biological

evidence meets established grounds for admissibility, some argue that constitutional considerations in obtaining such evidence need to be

considered; in particular, that Fourth, Fifth,

Sixth, and Fourteenth Amendment issues of

search and seizure, self-incrimination, right to

counsel, and due process (respectively) should

be raised. Although a comprehensive examination of constitutional issues is beyond the scope

of this report, it appears that DNA testing as

evidence for identification is unlikely to be

viewed as presenting special constitutional

considerations-in particular, as violating Fifth,

Sixth, and Fourteenth Amendment rights. In the

case of rights against unreasonable search and

seizure, OTA identified one appellate-level case

involving DNA typing where the issue was

raised, but the court did not review the claim that

the taking of a blood sample violated the Fourth

Amendment since the defendant had consented

to the procedure. In any case, search and seizure

of evidence for DNA typing is unlikely to center

on issues unique to DNA evidence.

ADVANTAGES AND

LIMITATIONS OF DNA

TYPING AS EVIDENCE

DNA testing for identification purposes affords several advantages to the law enforcement

and the legal system and no disadvantages per

se. In the United States, high violent crime rates

often yield biological evidence, but traditional

serological technologies achieve only modest

success in either associating or disassociating

suspects with the crime. DNA identification is

likely to influence and build on present-day

success with such traditional forensic genetic

technologies.

As a biological material distinguishing individuals, DNA is more variable and stable, and

detection methods more robust, than traditional

genetic markers examined by forensic laboratories. As an index of differentiation between two

humans, it is also more powerful than conventional markers because it can provide what

amounts to a statistically positive link between

an individual and biological evidence from a

crime scene. And, because it is more discriminating, it is also easier to clear wrongly accused

persons. For example, approximately 37 percent

of the cases received by the FBI for DNA

analysis result in exclusion of the primary

suspect.

DNA testing can save law enforcement and

courts time and money by exonerating innocent suspects before trial, or through plea

bargaining for guilty parties, as increasingly

defendants are confronted with DNA typing

results. DNA profiles can also be stored in a

computer network that could subsequently be

used to investigate rapes and serial crimes. In

1988, 92,486 forcible rapes were reported, and

studies indicate that this number is an underestimate since fewer than half of rape victims report

this crime. In terms of impact on convictions or

acquittals, sexual assault cases are most likely to

reap the benefits of DNA typing.

No disadvantages of DNA testing technologies themselves were identified by OTA, but

limitations and criticisms exist. In 1988,20,675

murders and nonnegligent manslaughter cases

were reported in this country, and although

forensic analysis using DNA typing in specific

homicide cases certainly will be useful, its effect

on aggregate homicide solution rates might not

be appreciable, except perhaps in serial murders.

Critics argue that DNA testing has been rushed

into court without agreement being reached in

the scientific community regarding either standards that ensure the reliability of the evidence

or guidelines for interpreting results. And, because DNA testing itself and the costs associated
18 ● Genetic Witness: Forensic Uses of DNA Tests

with expert witnesses can be substantial, the

ratio of defense to prosecutorial resources,

already heavily in favor of the prosecution,

could be widened. Finally, many harbor the

misconception that DNA typing applied to

forensic samples always yields a “yes” or

‘‘no answer. Tests are not black and white, and

DNA profiling tests are no exception. An

important, and often overlooked, result of an

analysis could be ‘‘inconclusive, ’ ‘‘uninterpretable, or ‘‘uninformative, ’ which should not

be misconstrued as either inclusion or exclusion

of a suspect. Nor does any matching profile

necessarily mean positive identification, since

the power of DNA analysis depends on the

population characteristics of the tests used.

COMPUTER TECHNOLOGY AND

DNA IDENTIFICATION

Computer technologies are central to forensic

applications of DNA typing in two respects.

First, computers can be used to more objectively

and precisely analyze results of DNA typing,

including RFLP analysis. Second, computers

can be used to store DNA typing results.

Databanking of DNA profiles can be used to

either collect population statistics, which leads

to more accurate estimates of the frequency that

a particular DNA pattern occurs in a population,

or to provide criminal investigative support.

In the area of analyzing DNA test results,

computers help scientists by both speeding the

process and employing computational tools to

augment the power of the human eye. Because

the actual readability of x-ray films, which are

the final units depicting an individual’s stripelike pattern, varies from case to case, computers

are used to reduce human discrepancies. Without computers, analysts ‘‘eyeball’ banding patterns on x-ray films—potentially leading to

more subjective results from analyst to analyst,

or even for the same individual.

A range of computer systems exists for RFLP

analysis, and the amount of analyst-computer

interaction is tremendously diverse. One system

involves the individual marking the location of

bands, then allowing the computer to calculate

whether known and questioned samples match.

In another, more-automated system, the computer automatically marks band positions it

detects through a video camera and image

analysis. Such systems can also apply mathematical algorithms to normalize band patterns,

‘‘straighten’ lanes, account for inconsistent gel

composition, variation in electric field, or other

conditions prior to calculation of fragment size.

Computers can, without operator involvement,

discriminate banding patterns not detectable

with the human eye alone. Yet while they can

assist in identifying legitimate bands, computers

can also be influenced by background noise and

create, even in controlled situations, a result

where none was expected. Computer-assisted

analysis of RFLP patterns is under way at

commercial firms and at FBI, State, and local

laboratories.

Computer-assisted image analysis of DNA

tests, while useful, raises the question, do

computers lie? Depending on the level of computer v. analyst interaction in analyzing DNA

testing data, special consideration may be necessary in judicial deliberations. Forensic analysts,

not computers, will appear in court for examination as witnesses. The forensic science community may want to ensure that analyst-computer

integration can be traced so that edited patterns

can be reconstructed, and that the initial image

is available for review by another individual.

Courts could be required to determine the

admissibility of computer-enhanced images—

cleaner and, arguably, more persuasive than

typical x-ray film—and will need assurances

that such images are an accurate representation

of a test’s results. Thus, both courts and the

forensic science community should be prepared for future discussions on whether to

subject computer analysis tools to verification and reliability testing analogous to those

applied to DNA technologies.

In the second area of utility, databanking,

computer technologies enhance the ability of

Federal, State, and local law enforcement officials at many levels (figure 1-10). The auto-
Chapter l-Summary, Policy Issues, and Options for Congressional Action ● 19

mated fingerprint identification system, for example, has revolutionized the ability of criminal

investigators to identify suspects within and

across jurisdictional boundaries. Similarly, considerable interest exists in using computer technologies to enhance criminal investigations

through datasharing of DNA test results. Centralized or linked databases containing DNA

profiles would permit rapid, electronic comparison of results from tests on different samples

within a laboratory and among laboratories

nationwide. An OTA survey of State and local

crime laboratories revealed a large majority of

laboratories (95 percent) said that DNA results

should be incorporated into a database for

exchange among law enforcement agencies.

As mentioned earlier, databanks are being

used to store information to generate population

genetics data to support RFLP analysis. Databases for population statistics purposes arouse

little controversy; computer storage of investigative support data are more controversial. (See

following section on privacy.) The FBI is

currently developing a theoretical model and

working prototype for an investigative DNA

profiling database. At least three types of information files would be included: open case,

missing persons/unidentified deceased, and convicted offenders. The former two types would be

centrally maintained by the FBI. Open case files

could be used to help investigators determine if

a series of crimes were committed by the same

person. Missing persons/unidentified deceased

files could include DNA information from

parents who report their children missing, so

that as children are located, the child’s DNA can

be compared with parental DNA profiles on file.

Convicted offenders files would be maintained

by individual States, but the FBI would provide

an indexing service, with States capable of

gaining access to other States’ files after certain

approvals were obtained (figure 1-1 1). Sixteen

States and one county have authorized or initiated legislation to authorize known offenders

files (table 1-2).

Because a cross-jurisdictional network will

be required to maintain proposed investigative

databases, discussions are being held about the

Figure 1-10—How a Database of DNA Information Could Be Created and Used

Where will the information go?

- not yet scientifically possible

The law enforcement community cites a need for a DNA database to apprehend repeat offenders and solve serial crime; the military for

additional identification (e.g., for victims of wars and mass disasters). Civil liberties experts, however, fear that DNA testing could expand

beyond legitimate identification needs, and that test results would be widely avalable through the de faoto national database.

SOURCE: Office of Technology Assessment, 1990.
20 ● Genetic Witness: Forensic Uses of DNA Tests

Figure l-ll—Proposed Data Files: Who Will

Maintain Them?

Proposed Data Files: Who will maintain them?

The FBI has proposed separate responsibilities for Federal, State,

and local jurisdictions in creating and maintaining DNA databanks. This effort will require significant levels of coordination and

cooperation to be effective.

SOURCE: Office of Technology Assessment, 1990.

most appropriate mechanism. DNA data held in

Federal, State, or local files could be exchanged

through the National Law Enforcement Telecommunications System (NLETS). A computerized message switching network operated by

a nonprofit corporation controlled by the States,

NLETS does not hold or manage data files, but

is a possible vehicle for DNA data transmission.

The most likely candidate to handle interjurisdictional inquiries is a system maintained by the FBI, the National Crime information Center (NCIC). NCIC currently contains about 20 million records on persons and

property, and answers almost instantly about

75,000 inquiries a day. Although in December

1987 the NCIC Advisory Policy Board voted

not to add DNA information to NCIC at that

time, DNA testing and acceptance by law

enforcement has spread rapidly since then. In

June 1989, the Board reconsidered its actions,

voting to index and match DNA profiles in

NCIC.

Another area related to databank development (as well as to standards of statistical

analyses) where many agree attention should be

focused results from the dynamic and diverse

nature of the U.S. population. Collection, classification, and databanking of genetic differences

based on ethnic and racial subgroups affects

efforts geared toward both population statistics

and investigatory databanks. Stratification based

Table 1-2-State Laws To Establish Computer Files of

Known Offender Genetic Patternsa

State Action

Arizona

Governor signed a 1989 law requiring DNA testing of

convicted sex offenders.

California

Passed laws in 1985 and 1989 requiring all convicted sex

offenders to provide blood and salivia specimens at the time

of their release from prison. Samples collected to date and

future samples will be submitted for DNA testing, and the

Attorney General’s Office has begun studies to determine

the best methods for collecting and storing data.

Colorado

Enacted legislation to require genetic testing of all sexual

assault offenders released on parole after May 29, 1988.

Florida

A law enacted in 1989 calls for a computer bank for genetic

information on convicted rapists.

Illinois

Legislation enacted requiring those convicted of sexual

assault or attempted sexual assault, or who have been in

an institution as a sexually dangerous person, to submit

specimens of blood or saliva to the State police.

Iowa

Governor signed a law in 1989 that permits DNA testing in

the criminal law context. The Attorney GeneraJ’s Office will

issue rules about which crimes are covered and who will

be required to donate DNA samples. Genetic profiling

could become a rendition of parole.

Minnesota

Law enacted in 1989 that requires uniform procedures for

collecting DNA information in cases of criminal sexual

conduct, requires a court that is sentencing a person for

criminal sexual conduct to order a DNA analysis specimen,

and provides for admission of DNA test evidence without

expert testimony.

Nevada

Requires that convicted sex offenders submit to DNA

testing of their blood and saliva, and requires that the test

results be maintained in the State’s criminal history

records.

South Dakota

1990 law allows law enforcement agencies to perform DNA

typing of people convicted of sex crimes, calling for blood

and saliva samples to be taken from those convicted and

arrested.

Virginia

State legislature passed a bill in the 1989 session that

requires DNA typing of convicted sex offenders.

Washington

State law requires a system to collect genetic descriptions

of violent and sexual offenders. In addition, King County

(Seattle) passed an ordinance requiring DNA testing of sex

offenders.

aAs of January 1990, at least five other States-Connecticut, Massachusetts, Michigan, Indiana, and Ohio-have proposed DNA databanking

legislation that had not yet been enacted.

SOURCE: Office of Technology Assessment, 1990.

on self-reporting or surname (e.g., Hispanic) can

be misleading. If future investigatory databanks

rely on such information to associate a certain

DNA banding pattern from an unknown sample
Chapter 1-Summaryr Policy Issues, and Options for Congressional Action ● 21

to a racial or ethnic group, problems will likely

arise.

Finally, DNA test results have been successfully computerized, but unless methods are

standardized, e.g., restriction enzyme and

probes, the potential usefulness of known offenders files or missing persons files will be

constrained. Although no insurmountable technical difficulties face databank development,

without quality control and quality assurance for

DNA typing itself, without computer compatibility, institutional protocols to review results

before data entry, and a capability to handle new

DNA typing developments, computer technology combined with DNA analysis as a tool will

be limited. Some postulate that the push to

establish investigatory databanks will, by itself,

be the factor that leads to standardization and

quality assurance.

PRIVACY AND CIVIL LIBERTIES

CONSIDERATIONS

As long as information refers to an identifiable individual—whether that reference is made

by a person’s name, a number, or some other

distinguishing characteristic-it is personal information. The pervasive use of computer systems to collect personal information raises civil

liberties issues and informational privacy concerns. Social security numbers are personal, as

are fingerprints. Use or misuse of personal

information collected in electronic databases

can affect an individual’s ability to obtain

employment, credit, insurance, security clearances, and other services and benefits. Not

surprisingly, then, proposals to store a person’s genetic information in a national network evoke several concerns about privacy.

Yet the Government and private sector regularly collect and “bank” personal information.

The law enforcement community currently maintains databases that include much personal

information, such as a person’s name and

aliases, fingerprints, criminal record, sex, eye

and hair color, and some medical information,

such as whether a person has epilepsy. Nevertheless, because DNA is specific to an individual and so highly personal, some are reluctant to see any DNA test results become part

of a de facto national database. Still others

fear that genetic testing will not be limited to

identity, but will expand to include disease (e.g.,

sickle cell or Huntington’s disease), proclivity

toward disease (e.g., cancer or coronary disease), or behavioral characteristics (e.g., schizophrenia) that could then find their way into the

database. Some believe it to be an inappropriate

use of government authority to collect and store

genetic information tied to a specific individual,

because it is sensitive and personal. Related to

these concerns are those about data security and

the quality and reliability of the information that

will be stored, should databanking of DNA

results proceed.

One aspect of privacy considerations relevant

to forensic applications of DNA tests can be

separated into databanking DNA profiles v.

storing DNA. Current proposals for law enforcement databases anticipate a need only for

the test results of convicted offenders and

unidentified crime scene evidence in investigatory databanks. Since the vast majority of tests

are currently limited strictly to identification,

such proposals assuage for many the privacy

concerns of these types of databanks. For most

people, the information most likely to be put, for

now, into criminal history files-RFLP banding

patterns for identification only—probably does

not escalate privacy concerns because scientists

do not currently know of any disease association

with these markers. Contributing patterns of

nondisease-linked DNA to military recruit files

or newborn files might be indistinguishable

from health status or a social security number

for some.

Many object, however, to proposals for storing DNA profiles that can be associated with

genetic disease, even though highly polymorphic areas of DNA correlated to disease exist

and can be important in forensic casework.

Further, many believe any type of DNA sample

storage (as opposed to just coded DNA patterns)

is inappropriate, primarily because it increases
22 ● Genetic Witness: Forensic Uses of DNA Tests

the likelihood that there will be testing for

information beyond unique identity. Still others

believe actual storage of genetic material and

information is included in that category of

information-along with religion, votes, special

confidences-that civil liberties tradition in this

country protects from compelled disclosure.

Yet new means to detect and deter crime are

necessary and compel great respect in this

country. Violent crimes nationwide increased

5.5 percent from 1987 to 1988. With high rates

of recidivism among convicted offenders,

databases could be used to analyze whether

evidence found at a crime scene matched a

profile in the database, and thus provide

police with a lead toward identifying a suspect. According to the Bureau of Justice Statistics, a survey of recidivism among State prisoners released in 1983 revealed that 62.5 percent

had been rearrested within 3 years, with 41.4

percent returned to prison. Rearrest among

violent offenders was 59.6 percent, and released

murderers were about five times more likely

than other offenders to be rearrested for homicide. In particular, the FBI believes DNA

genetic databases will aid their efforts to

solve some forcible rape cases—a woman is

raped in the United States approximately

every 6 minutes. Released rapists were 10.5

times more likely than other released offenders

to be rearrested for rape. DNA genetic databanks

could also be of aid to law enforcement in the

growing number of serial crimes.

On the other hand, on a percentage basis, 6.6

percent of released murderers were rearrested

for homicide and 7.7 percent of released rapists

were arrested in new rape cases. Some opposed

to DNA databases point out that many accused

rapists choose to litigate only the issue of

consent, thus the source of the semen—the only

issue that can be addressed with DNA testing

and databanks-is never in question. Research

shows that blood evidence is available to link a

suspect to murder in only 15 percent of cases,

semen available to link a suspect to rape in 10

percent of cases, and hair available to associate

a suspect to murder or rape only 5 percent of the

time. These statistics appear less compelling

than those presented by database advocates, and

suggest a need to weigh potential social benefits

of investigatory databases against both economic costs (expenditures to establish a databank) and, perhaps more importantly, potential

social costs (including invasion of privacy.)

Finally, privacy considerations about forensic

DNA analysis also center on DNA databases

themselves—as opposed to whether to store

DNA v. encoded DNA profiles. Civil liberties

tradition holds that personal information collected under government authority should not be

indiscriminately shared. The Privacy Act (U.S.C.

552a) offers some protection regarding data

collection and access to information about most

individuals included in Federal databases, but

specifically provides that criminal justice agencies may exempt their record systems from

many of its provisions.

If DNA information were to be incorporated

into the NCIC Interstate Identification Index, as

suggested by the FBI, access would be limited

because noncriminal justice use is prohibited.

The FBI has adopted privacy regulations that

govern the NCIC. States that violate these

standards can be denied NCIC services.

FBI proposals for DNA databases, however, envision maintenance of DNA information in State criminal history files, which vary

in their accessibility. State law governs maintenance of non-Federal databases, and State criminal history files range from being completely

open records, as in Florida, where private access

is permitted, to being sealed from public scrutiny, as in Massachusetts. Concern about some

types of criminal behavior, particularly sex

offenses, led Congress to require that State

criminal history files be opened to certain

noncriminal justice agencies and employers. For

example, in 1984, Congress required States to

establish procedures to provide for nationwide

criminal history checks for all operators and

employees of child care facilities (Public Law

98-473). In addition, there has been increased
Chapter l-Summary, Policy Issues, and Options for Congressional Action • 23

emphasis on such record checks for current and

prospective Federal employees.

Informational privacy safeguards interests in

personal freedom. Constitutional principles, particularly the right of privacy and the right to due

process, establish a framework for questions

about what types of records are kept, on whom,

by whom, and the protocols for access to them.

Recognition of these rights evinces a belief that

individual freedom and liberty prosper when

detailed information about a person’s life is

private. Ensuring that sensitive or stigmatizing

information remains private protects an individual from harm.

DNA TYPING IN THE UNITED

STATES: CURRENT PRACTICE

AND FUTURE OUTLOOK

Despite the fact that only a few years have

passed since DNA evidence was first used in a

U.S. criminal proceeding and that several issues,

such as technical standards, quality assurance,

and civil liberties and privacy concerns, remain

to be resolved, interest in implementing DNA

typing at the Federal, State, and local levels has

skyrocketed. Likewise, forensic applications of

DNA analysis have generated excitement in the

international law enforcement community (box

l-D).

Commitment to forensic applications of DNA

testing at the Federal level is demonstrated by

extensive efforts by the FBI in research, training, technology transfer, and casework. With the

mandated mission of performing research of

value to both the FBI’s DNA Analysis Unit and

to State and local crime laboratories, the Bureau’s Forensic Science Research and Training

Center (FSRTC) has investigated applications

of DNA typing to forensic casework since 1986,

and has trained over 100 State and local forensic scientists in DNA techniques. Research at

FSRTC encompasses a range of projects, including examining gel electrophoresis techniques that might replace current methods and

evaluating environmental effects on reliability

and validity of RFLP analysis applied to forensic specimens. In fiscal year 1989, FSRTC

devoted approximately 20 percent ($104,200) of

its research and training budget and 36 percent

($143,200) of its supply budget on DNA technologies. Seminars, symposia, the Visiting Scientist Program, collaborative research, and publications have been and continue to be important

mechanisms used by the FBI to disseminate

information about DNA techniques to State and

local crime laboratories. Related to this role in

technology transfer, as mentioned earlier in this

chapter, the Bureau has served and continues to

serve as a facilitator in discussions about many

of the controversies surrounding forensic applications of DNA testing, including quality assurance, databanking, and statistical analysis and

reporting of RFLP results.

In addition to these programs, the FBI Headquarters Laboratory established a DNA Analysis Unit to perform DNA tests on forensic

samples from the State and local law enforcement communities at no cost to the jurisdiction.

Since accepting casework in December 1988,

and since reporting its first case in March 1989,

the FBI DNA Analysis Unit received 2,619

samples for 536 cases as of July 1989; by

mid-February 1990 these numbers had risen to

6,377 and 1,338, respectively. The FBI anticipates being capable of processing 10,000 samples per year.

DNA identification is a forensic tool that

has been quickly embraced by the State and

local criminal justice communities. Over threequarters of 221 crime laboratories responding to a 1989 OTA survey stated that DNA

typing is very important to their mission, and

nearly one-half had contracted for this service with an outside facility (overall response

rate of 85 percent). Forty-six percent of State

and local crime laboratories said they have plans

to implement onsite DNA testing in the next 1

to 2 years.

Yet costs associated with establishing and

maintaining onsite capability will clearly be

beyond reach of some crime laboratories (box

l-E). The OTA survey revealed a diversity in
24 ● Genetic Witness: Forensic Uses of DNA Tests

Box l-D—Uses of Forensic DNA Tests Internationally

An informal OTA survey in January 1989 of 40 countries found that at least 15 have implemented or are

exploring forensic applications of DNA tests,l with most expecting to perform DNA typing of forensic samples in

late 1989 or 1990. Two-the Republic of Korea and Yugoslavia—reported that such use of DNA identification was

not planned. South Africa indicated that DNA typing is used only for medical applications at present, but embassy

staff did not say whether this might be broadened to forensic uses. Yugoslavia also reported that such tests are used

for medical applications.

The extent to which DNA typing technologies have been used abroad varies. In the United Kingdom, where

forensic applications of DNA typing originated, single-locus and multilocus approaches have been fully accepted

for criminal, paternity, and immigration casework. Over the past 2 years, Norway has gradually begun to use DNA

typing in selected penal and civil cases. In other countries, DNA profiling is in an early, exploratory phase, with

law enforcement units developing suitable systems and, in particular, collecting population data. In 1988, for

example, Finland replaced traditional genetic human leukocyte antigen (HLA) typing for paternity cases with

DNA-based profiling, which is now routinely used; DNA identification for criminal offenses has been used on a

selective basis.

The Israeli police intend to use DNA typing on a routine basis, and as of February 1989 were beginning trials

on case samples. The Main Office of the Polish police and the Polish Academy of Sciences are conducting research

on DNA typing for forensic applications and anticipate field applications at the end of 1989 for selected rape and

murder cases. Explorations into DNA typing for paternity purposes in Poland has been discontinued due to lack of

funding. In the State of South Australia, RFLP analysis is used for paternity testing, and polymerase chain reaction

has been used for crime work. Two of New Zealand’s three forensic laboratories plan to be performing DNA analysis

by early 1990. Several countries, while currently in the development phase, have contracted with commercial

laboratories on a limited basis.

Full international cooperation that would result in standardization and a coordinated investigative databank

as with some current NCIC files, appears beyond reach at the moment. On the one hand, close coordination between

the Royal Canadian Mounted Police and the FBI will likely lead to effective data sharing from the outset-especially

since the FBI anticipates its system eventually will become the de facto system in the United States. On the other

hand, in anticipation of a unified European Community in 1992, officials of Denmark Italy, the Netherlands, the

United Kingdom, and Federal Republic of Germany met and agreed to a series of issues pertinent to standardization,

including a designated restriction enzyme (different from the U.S. system) and a common probe. Nevertheless,

although current technologies and applications appear to have advanced too far for international standardization for

the present, the situation is likely to change as future technical advances are adopted. In the interim, the Federal

Government could facilitate dialogue and encourage cooperative efforts leading toward a system amenable to DNA

identification among, not just within, international criminal justice entities.

and West Germany.

crime laboratory budgets and staff sizes, and will reach a point where access to DNA typing

further indicated that some might not even be

able to cover costs of contracting with commercial laboratories for DNA typing (table 1-3)—13

percent of laboratories responding to the OTA

survey have provisions to contract with private

firms for DNA services, but may not be able to

submit cases due to cost. Of the 110 laboratories

contracting for tests, nearly half (49 percent)

have not submitted budget provisions to do their

own DNA analysis onsite. Thus, because it is

not inconceivable that all forensic laboratories

will be essential, services provided at no cost by

the FBI DNA Analysis Unit will become increasingly important. For laboratories pursuing

onsite DNA typing services (41 have submitted

budget provisions), some unique financing mechanisms are being employed, including revenue

from a cigarette tax in one State and money

derived from the sale of goods and property

confiscated from drug-related investigations. At

the time of the survey, only one laboratory

conducted DNA identification onsite.
Chapter I-Summary, Policy Issues, and Options for Congressional Action ● 25

Box l-E—What Does DNA Typing Cost?

State and local laboratories have three options available to them if they are interested in DNA analysis of

forensic specimens: the FBI DNA Analysis Unit, commercial laboratories, and onsite testing. The FBI laboratory

provides DNA testing to State and local crime laboratories at no cost, while the fee structure of the three commercial

laboratories varies from $200 to $490 per sample, or $1,500 per case, depending on the exact service and company

(table 1-3). The FBI estimates that performing DNA typing on one sample, after a laboratory is equipped, will cost

$28.50 (excluding labor), and $98.50 including labor, but not overhead costs such as rent and utilities, which are

included in the fee structures of the commercial companies. The Miami-Dade Police Department Crime Laboratory

Bureau estimates it will cost their facility $41.60 per sample (excluding labor) and with labor costs added, $97.60.

The cost of establishing a DNA typing unit onsite will vary from laboratory to laboratory, depending on the case load

expected and existing equipment, but the FBI estimates that $60,000 to $70,000 would cover equipment expenses.

Upto$11,000 more could be necessary to cover the cost of the FBI computer analysis hardware, and, should DNA

databanking be implemented through the NCIC, States could expect an additional expense of approximately

$200,000 for databanking efforts.

In addition to startup costs, a laboratory program would need to expect certain monthly operating costs.

Although, again, the expense will depend on the number of samples on which a laboratory does DNA analysis, the

FBI estimates monthly costs (excluding labor) based on handling 10,000 samples a year of approximately $18,100.

The Miami-Dade facility estimates monthly costs (excluding labor) based on handling 3,600 samples a year of

approximately $12,300. Future techniques are likely to rely increasingly on automation and could require a

significant one-time outlay in exchange for greater speed and accuracy. Whether operating costs would increase or

decrease with such automation, however, is difficult to predict.

Although the FBI provides DNA testing services at no cost, many laboratories will opt to do at least some DNA

typing onsite. Enhanced turnaround time and the ability to keep evidentiary material are frequently cited as the

primary benefits State and local facilities believe onsite DNA profiling will provide.

SOURCE: Office of Technology Assessment 1990.

Table 1-3—Costs for Forensic DNA Testing by Private Laboratoriesa

Forensic Science

Service Cellmark Associates Lifecodes

DNA testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . $490/sample $1,500/case $325/sample

Processing isolated DNA sample . . . . . . . . . . . . . . . . . . . . $350/sample Not available $200/sample

Expert witness (daily rate + expenses) . . . . . . . . . . . . . . . $1 ,000/day (Ph. D.) $100-$125/hr. $750/day

$750/day (non-Ph.D.)

Processing of insufficient sample . . . . . . . . . . . . . . . . . . . . $21 O/sample $250/sample $125/sample

alnformation current as of June 1989.

SOURCE: OMce of Technology Assessment, 1990.

Overall, results from the OTA survey indicate

that the likelihood of integration of DNA testing—

via contracting or onsite—in the next 1 to 2

years appears mixed. Although 46 percent of

labs have plans for onsite testing during this

period, and 46 percent (not necessarily the same

ones) have plans to contract with commercial

laboratories, 21 percent stated they were not

planning to contract in the next 24 months, and

51 percent have no plans for onsite testing.

Fewer than 10 percent said they would neither

contract nor had plans to pursue DNA typing

onsite. Nevertheless, the demand from State and

local crime laboratories for outside DNA profiling will likely continue in the future, since 83

laboratories estimated they will seek outside

DNA analysis of from 2 to 3,000 samples.

Finally, the necessity for present and future

cooperation between the FBI and State and local

laboratories was clearly revealed by the OTA

survey. Respondents believe, to varying extents,

that an FBI role in many issues is appropriate

(table 1-4).
26 ● Genetic Witness: Forensic Uses of DNA Tests

Table 1-4-Suggested FBI Roles in DNA Testing

Question 4a: What role, if any, do you see for the FBI in DNA

testing? (Please check all that apply).

Percent of labs

Role Yes No No answer

Research (methods development

and evaluation) . . . . . . . . . . . . . . . 96b

Training . . . . . . . . . . . . . . . . . . . . . . . 95

Casework for State and

local labs . . . . . . . . . . . . . . . . . . . . 63

Maintenance of centralized

DNA files . . . . . . . . . . . . . . . . . . . . 88

Reference library . . . . . . . . . . . . . . . . 77

Define standards . . . . . . . . . .......48

Certify laboratory personnel . . . . . . . 24

Provide proficiency samples

for quality assurance . . . . . . . . . . . 55

Other. . . . . . . . . . . . . . . . . . . . . . . . . . 8

2

3

34

10

20

49

73

43

89

2

3

2

2

3

2

2

2

2

aThe code number of the question in the survey instrument (see app. B.).

bpercentages may not add to 100 due to rounding.

SOURCE: Office of Technology Assessment, 1990.

THE ROLE OF CONGRESS AND

POLICY ISSUES AND OPTIONS

With crime rates always a concern in local

jurisdictions, the advent of any new method to

assist investigators is welcomed. DNA testing

has been no exception. Forensic applications of

DNA tests have come to the attention of Congress because of the high visibility their use

receives in congressional districts throughout

the country. In fact, many Federal, State, and

local law enforcement authorities have fueled

public fascination in forensic uses of DNA tests

by touting them as a revolutionary breakthrough

in crime work, particularly rape and homicide

cases. In some measure, congressional interest

in recombinant DNA technologies, biotechnology, and the human genome project has also

contributed to congressional interest in forensic

DNA analysis.

Five policy issues related to forensic uses of

DNA tests were identified during the course of

this assessment. They are:

quality assurance of forensic uses of DNA

testing, including technical and operating

standards for private and public facilities;

funding of crime laboratories, forensic

personnel training, and forensic research;

the advisability of establishing computer

databanks of DNA tests results;

standardization of DNA analysis for improved data collection; and

privacy considerations of collecting, using,

and storing DNA data or samples.

Congress could play a role in each of these

policy issues through oversight of activities

related to forensic uses of DNA tests or through

authorization of actions by the executive branch

to set up formal coordinating structures or

specific mandates—which could be freestanding or tied to appropriations.

Specific options that Congress could consider

to address policy issues related to forensic uses

of DNA typing build on the discussions presented earlier in this chapter and in chapters 3

through 6 of this report. Associated with each

policy issue, discussed in turn in the following

sections, are several options for congressional

action that range from taking no specific steps to

making major changes.

The order in which the options are presented

does not imply their priority. Moreover, the

options are not generally mutually exclusive:

Adopting one does not necessarily disqualify

others that pertain to the same or other issues,

although changes in one area could have repercussions in others. A careful combination of

options within and among the five policy issues

could produce the most desirable effects.

Finally, since DNA testing is used in a

criminal context, issues regarding the overall

adequacy of the U.S. criminal justice system

naturally arose during this study. Prominent

among these issues was universal access to

DNA typing for defendants, who often are less

able than the prosecution to fund services. The

adequacy of funding for defense-related services, however, is a broad social issue that is

beyond the scope of this report. Nevertheless,

access to DNA typing services and test results

could be a topic tied to a number of the options

presented for the five policy issues.
Chapter I--Summary, Policy Issues, and Options for Congressional Action ● 27

Photo credit: Robyn Nishimi

Quality Assurance and Standards

The issue of setting standards for forensic

applications of DNA testing is the most pressing

of the five policy issues identified by OTA.

Standards for public and private facilities performing forensic DNA tests are essential to

quality assurance of DNA analysis of forensic

samples. Establishing standards at the earliest

possible date is imperative.

OTA identified two distinct types of standards for forensic applications of DNA testing.

Technical standards include matters such as

proper scientific controls, choice of probe sequence, and analytic methods. Operational standards refer to areas of laboratory performance,

such as recordkeeping, laboratory accreditation,

licensing of personnel, and proficiency testing.

At present, neither the Federal Government

nor any State regulates DNA testing by companies or crime laboratories. This situation is not

unique to DNA analysis. Except in certain

restricted areas, such as forensic alcohol analysis, no general licensing requirements for laboratories or personnel exist for crime laboratories. In contrast, Congress and the executive

branch have stepped in to regulate drug testing

laboratories and clinical laboratories.

Option 1: Take no action.

In the absence of congressional action to set

or encourage adoption of technical standards,

voluntary efforts by the FBI and professional

organizations and case-by-case examination by

the courts will likely move forward. FBI efforts

to develop and disseminate recommended technical and operational requirements will continue. Continued case-by-case examination of

proper technical and operational standards could

slow full implementation of forensic analysis

using DNA tests, as courts could become mired

in scientific detail. If Congress takes no action,

a haphazard array of standards could be developed, and disparate initiatives are likely to prove

more expensive overall than a centralized effort.

On the other hand, some feel the courts are

adequately handling issues raised by the technology. By taking no action, Congress leaves to

the courts the decision as to whether adequate

technical and operational standards were employed in a particular case by a particular

laboratory. In addition, if Congress takes no

action, it would avert Federal oversight or

regulation of the network of State and local

crime laboratories that were established as local

entities, which to date have been responsive

only to their individual jurisdictions and are

funded nearly totally by local monies.

Option 2: Encourage the National Conference

of Commissioners on Uniform State Laws to

promote uniform practices in forensic

applications of DNA tests.

An organization set up for and by the States

to promote uniformity of laws in a variety of

areas, the Conference has Commissioners appointed by each State. In response to recommendations and appeals from numerous sources, it

identifies areas where uniformity of law would
28 ● Genetic Witness: Forensic Uses of DNA Tests

be useful, and drafts laws that are then proposed

to State legislatures for enactment. For example,

the Uniform Anatomical Gift Act was designed

to address issues surrounding the area of organ

transplant donation.

Congress could encourage the Conference—

through a letter of request by a Committee or

through legislation—to address the issue of

standards and quality assurance for forensic

DNA analysis. Adopting this option would

signal congressional interest in uniform standards for forensic DNA typing, while leaving

their development to a body controlled by the

States. On the other hand, the Conference is

under no obligation to respond to letters or

legislation to address an issue, so the consequences could be the same as taking no action.

Option 3: Encourage the use of a formal, open

consensus review or conference to address and

recommend quality assurance guidelines.

Short of regulating forensic uses of DNA

tests, Congress could facilitate voluntary efforts

to achieve quality assurance of forensic services, including DNA analysis. Congress could

specifically authorize the use of governmental

agencies and appropriations to hold consensus

conferences that would establish review processes or recommend protocols for technical and

operational standards.

In encouraging this approach, Congress could

exercise oversight to direct the FBI or NIST to

hold consensus conferences and recommend

procedures to ensure high-quality services for

DNA analysis of forensic samples. A consensus

process similar to that employed by the National

Institutes of Health (NIH) could be effective and

lead to greater quality assurance in forensic

practices using DNA tests. An important consideration, however, is that the process should be

open and represent the full range of stakeholders

to be most effective, since many questions

surrounding forensic uses of DNA technologies

involve public policy decisions, not purely

technical issues. Present efforts by the FBI to

facilitate consensus-building fall short of an

NIH-like process, because to date they have

been meetings gathering a limited number of

individuals by invitation.

Finally, Congress also could commission a

private research institute or professional society

to evaluate, through a consensus review process,

quality assurance concerns pertinent to operational standards or technical standards. (In

October 1989, a committee of the National

Research Council, National Academy of Sciences, began a study of forensic DNA analysis—

although not specifically to set standards—

funded in part by the FBI and the National

Institute of Justice (NIJ).)

Option 4: Direct the National Institute of

Standards and Technology of the Department of

Commerce to review and report on acceptable

technical standards for forensic applications of

DNA tests.

Identification of suitable technical standards

by a neutral, nonregulatory agency whose mission is to conduct research in measurement

standards would provide Federal oversight of

setting technical standards and could enhance

standardization of analyses, which could have a

positive impact on databank initiatives (see

following section). Directing NIST to report

independently on technical standards might

remove the objection of some to FBI-centered

involvement in standard setting. On the other

hand, because no regulatory authority exists for

NIST, recommendations for appropriate standards would still be subject to voluntary compliance unless mandated otherwise by Congress.

Voluntary compliance, including FBI participation, is likely to be perceived as less than

sufficient by those who seek mandatory standards. A majority of laboratories, including the

FBI laboratory, currently do not participate in

the criminalistics accreditation program of the

American Society for Crime Laboratory Directors.
Chapter 1-Summary, Policy Issues, and Options for Congressional Action . 29

Option 5: Establish an independent commission

to examine quality assurance issues

surrounding forensic uses of DNA analysis.

Congress could pass legislation to establish

an independent commission to evaluate quality

assurance issues of forensic DNA testing by

Federal, State, local, and private laboratories. A

commission directed to represent all interested

parties could address either technical or operational standards (or both) necessary for quality

assurance of forensic applications of DNA tests.

As with directing NIST to examine technical

standards, establishing an independent commission might remove the objection of some to

FBI-centered efforts for both technical and

operational standards. By the same token, absent a clear mechanism to implement any

commission recommendations, some will view

this option as insufficient. Furthermore, if Congress adopts this option, others will object to any

effort to remove control of such issues from a

laboratory-by-laboratory basis and will be concerned that an examination of general forensic

laboratory practices would be imminent.

Option 6: Enact broad-based quality assurance

legislation that covers forensic laboratories.

Congress could determine that current voluntary efforts to address quality assurance in

forensic applications of DNA analysis, forensic

practices in general, or both are insufficient or

moving too slowly, and could enact broad-based

quality assurance legislation that encompasses

public and private facilities doing forensic casework. Legislation could be based, in whole or

part, on similar, separate congressional action

addressing regulation of clinical and drug testing laboratories. In the case of Public Law

100-578, which regulates clinical laboratories,

Congress gave broad authority to an executive

agency, but also specified detailed measures,

including mandatory accreditation by Federal

authorities or a private, nonprofit body meeting

certain congressional criteria and approved by

the Federal Government, national standards for

certain laboratory methods, recordkeeping and

reporting requirements, mandatory quarterly

proficiency testing, sanctions, and penalties.

If Congress enacts quality assurance legislation, courts might be freed of some of the burden

of having to evaluate certain aspects of DNA

testing, or other forensic scientific analyses—

although the onus would remain with the laboratory to demonstrate it had adhered to good

laboratory practices. Establishing legislatively

mandated responsibility would likely satisfy

those individuals who believe Federal oversight

and regulation of public and private laboratories

doing DNA analysis specifically, or forensic

casework generally, is necessary. On the other

hand, although States do not currently regulate

their own laboratories, local crime laboratories,

or private laboratories accepting forensic casework, they likely will object to Federal preemption of their authority to regulate their facilities—

regardless of whether such regulation pertains

only to DNA tests or includes other technologies.

Congress could enact quality assurance legislation that encompasses only private laboratories,

and could require States to implement measures

for State and local laboratories. Such legislation

could mitigate some objection to Federal intervention, but is likely to be opposed by the few

private companies that exist and by those who

believe a Federal regulatory role is needed for all

forensic laboratories doing forensic casework.

Option 7: Direct the U.S. Attorney General to

set and oversee technical and operational

requirements for forensic uses of DNA testing.

Present efforts by the FBI on behalf of the

U.S. Department of Justice focus on facilitating

the development of laboratory standards. Congress could decide that direct Federal regulation

and oversight is necessary, and enact legislation

directing the U.S. Attorney General to implement standards for forensic uses of DNA typing

and to ensure compliance. Mandatory Federal

standards at both the technical and operational

levels could be issued, while allowing the U.S.

Attorney General flexibility in how such stan-
30 ● Genetic Witness: Forensic Uses of DNA Tests

dards would be set, evaluated, and refined as

DNA typing technologies advance. For example, Congress could direct the Attorney General

to adopt a process similar to the NIH Recombinant DNA Advisory Committee, which has

demonstrated how a flexible Federal role to

oversee recombinant DNA activities can evolve.

Nevertheless, placing the U.S. Attorney General or a designee such as the FBI in the role of

regulator is likely to receive strong opposition

from both State and local crime laboratories as

well as other interested parties. Fewer than half

the laboratories (48 percent) surveyed by OTA

believed setting standards was an appropriate

role for the FBI. Only 24 percent believed

providing certification was appropriate. State

and local facilities are likely to resent intrusion

of Federal authority in what has been, to date,

locally funded and operated entities. Others not

connected to crime laboratories probably will

object to FBI oversight as a situation of the fox

guarding the hen house. ’ Finally, it is likely that

the FBI will prefer to retain its role as an

investigative agency, rather than a regulatory

body. Further, because regulatory duties would

require a significant sum of money for development and enforcement of standards, appropriation of new funds or reallocation of existing

Department of Justice funds would be necessary

if Congress adopts this option.

Funding for Forensic Sciences

Hand-in-hand with standards for forensic

DNA analysis is ensuring that education and

training of personnel is adequate, that facilities

are properly equipped and funded, and that basic

research to evaluate forensic applications of

DNA be performed. Most agree that crime

laboratories and forensic sciences research that

supports technology transfer to crime laboratories are underfunded. Increasingly, indications

are that crime laboratories are experiencing

difficulties managing the steadily rising influx

of casework. Interest in implementing DNA

testing onsite, which could be coupled to increased requirements for laboratory accreditation, personnel licensing, or proficiency testing,

is likely to further stretch fiscal resources and

exacerbate the casework backlog.

Crime laboratories are public facilities that

receive operating monies from State, city, and

county sources, with little direct Federal investment. Present Federal spending is largely indirect, taking the form of research, training, and

casework. Is State and local funding of crime

laboratories sufficient, or is additional Federal

assistance necessary?

Option 1: Take no action.

Congress could conclude that State and local

funding for crime laboratories is adequate. If

Congress takes no action, State and local governments will continue to fund crime laboratories through a variety of mechanisms. Laboratories planning to conduct DNA typing onsite

will need to make substantial investments of

funds and personnel. A push by law enforcement, prosecutors, defense attorneys, and politicians for widespread dissemination of DNA

typing in crime laboratories without attendant

increases in funds would place additional financial burdens on facilities already strapped for

personnel and money. Additionally, if Congress

takes action to implement standards such as

licensing or proficiency testing, or to standardize DNA analysis of forensic samples to enhance databanking efforts, and takes no action to

provide increased Federal assistance, State and

local funds to cover costs associated with such

actions will need to increase or be diverted from

other crime laboratory activities.

For State and local crime laboratories that

cannot conduct DNA testing onsite, the FBI will

continue to accept their casework. If Congress

takes no action and State and local resources

prove limited, however, the number of crime

laboratories relying on the FBI for DNA testing

of forensic samples will likely increase and

could strain resources the FBI has devoted to its

DNA analysis program.
Chapter l-Summary, Policy Issues, and Options for Congressional Action . 31

Option 2: Increase direct Federal support for

crime laboratories.

Federal funds support crime laboratories indirectly through research and training at the

FSRTC and casework performed at the FBI’s

forensic laboratory, and DNA typing is one of

the array of forensic tools supported by these

efforts. Only a minute fraction, however, of

Federal funds for crime laboratories is direct.

The lack of available funding for some crime

laboratories to implement DNA testing highlights a much larger issue: that of insufficient

funding and personnel for crime laboratories to

carry out even routine forensic science procedures, let alone DNA analysis.

Congress could conclude that State and local

crime laboratories need additional funding to

perform their missions effectively, and could

directly appropriate funds for distribution to

these facilities; such funds could be linked to

quality assurance and standards requirements.

Congress could designate that the funds be

slated solely to support DNA testing, or could

leave the nature of programmatic spending to

State or local discretion. Congress also could

require that funds be matched by State and local

monies. Increased general Federal support, not

tied to DNA typing, might provide the best relief

for laboratories with casework backlogs. Providing directly for DNA testing could release

additional State and local funds for other forensic analyses or personnel training, but it also

might result in no net gain in crime laboratory

funds if State or local monies designated for

forensic serology and DNA analysis were diverted from crime laboratory budgets rather than

used to supplement other crime laboratory activities. Such a situation, while allowing State and

local laboratories to perform DNA tests on

forensic samples, would not alleviate, for example, case loads in firearms or drug analyses.

Present budgetary concerns also would need to

be balanced against the need for Federal spending in this area.

Option 3: Increase Federal support for the

training and education of crime laboratory

personnel.

Federal funds, chiefly through the FBI and to

a lesser extent through NIJ, support training and

education for active and future crime laboratory

personnel. For example, FSRTC provides training to crime laboratory analysts in numerous

areas, including biochemistry, physics, polygraphs, latent fingerprints, toxicology, immunology, and DNA analysis.

Given the rapid pace of scientific and technical developments in forensic casework, Congress could decide to increase funding for

training and continuing education of crime

laboratory personnel. Congress could focus on

funding courses specific to applications of DNA

typing, or could appropriate training and education funds on a broad basis. In increasing

Federal support, Congress could appropriate

increased funds to the FBI for training at

FSRTC, to NIJ for grants to academic institutions to train future forensic analysts or to hold

continuing education courses, or directly to

State and local laboratories to offset costs of

training personnel. For example, Congress could

provide increased funding that would allow

FSRTC to hold more DNA testing courses,

which are currently oversubscribed. Nontargeted training grants through NIJ or directly to

crime laboratories could encourage the development of programs tailored to specific needs of

State and local facilities.

Option 4: Increase Federal support for basic

research in forensic applications of DNA

technologies.

Federal funding of research specifically in

forensic applications of DNA analysis is limited. Congress could encourage the transfer to

crime laboratories of state-of-the-art molecular

genetics techniques developed in basic biomedical research laboratories by increasing support

for “bridge” research in forensic applications

of DNA techniques—i.e., research that explicitly evaluates new molecular techniques applied
32 ● Genetic Witness: Forensic uses of DNA Tests

to forensic specimens. Such bridge research

strengthens the underlying scientific and technical knowledge base for DNA analysis of forensic casework.

Congress could increase support by directing

monies to FSRTC, to NIJ for grants to academic

departments, or to both. If Congress increases

Federal appropriations for such research, present controversies surrounding technical standards for forensic applications of DNA technologies might be more quickly resolved, or perhaps even avoided, as additional techniques are

adopted by crime laboratories. In an era of fiscal

constraint, however, increased Federal spending

for basic research in forensic applications of

DNA technologies would need to be evaluated

against the backdrop of Federal budget considerations.

Advisability of a Databank

The FBI and others in the criminal justice

community believe that realization of the full

law enforcement potential of DNA testing depends on developing investigative databanks of

DNA patterns that are accessible nationwide.

Proponents of such databanks often cite high

rates of recidivism among violent offenders and

the growing incidence of serial crimes as justification for electronic storage of genetic profiles.

Many experts who recognize the importance of

a nationwide databank oppose investigative

DNA databanking for the moment on technical

grounds, arguing that such proposals are premature given the great technological flux likely to

occur in the near future. And although current

databanking proposals recognize the need to

incorporate flexibility in their design so that

files can be updated as technologies improve,

predicting the course of forensic DNA analysis

to account for changes even over the next year

or two could prove tricky; accurate long-term

forecasting of the precise direction is impossible. Finally, others oppose DNA computer

databanks on the grounds that the purported

benefits fail to outweigh the threats to civil

liberties they pose.

The FBI has developed computer hardware

and software necessary to convert DNA testing

results to data amenable to computerized storage

and retrieval. These tools will be provided to all

users of their testing system. Along with others,

it is discussing a proposal to implement a

nationwide investigative DNA databank network. Additionally, the FBI maintains a computer network, the NCIC, that provides for swift

exchange of electronic information between

criminal justice organizations at the Federal,

State, and local levels. The Director of the FBI

has committed himself to including DNA testing results in NCIC files.

Commercial laboratories, State and local laboratories, and the FBI have already established

databases of population statistics to support

their RFLP analysis systems. Collecting population data information for noninvestigative purposes enhances the population genetics knowledge base necessary to refine statistical analyses

of forensic applications of DNA typing. Such

DNA databanks are not controversial, for the

most part, and so limits on such DNA databanks

are not discussed.

Option 1: Take no action.

Computerized DNA information could benefit criminal investigative work via three classes

of files: open cases (where a suspect has not yet

been identified), known offenders (most likely

rapists and murderers), and missing/unidentified

deceased persons. Several States have passed or

proposed legislation that would support establishment of known offenders’ files, by requiring

DNA typing results on certain convicted offenders (most often defined as sex offenders o r

violent offenders). No State has actually begun

investigative databanking at this time, but sample collection is under way or imminent in

several locales. If Congress takes no action, the

FBI will likely proceed with plans to create

several investigatory databases containing DNA

profiles (most likely in the NCIC) and to

integrate these files with State and local efforts

that adopt the FBI DNA analysis protocol.
Chapter I----Summary, Policy Issues, and Options for Congressional Action ● 33

Photo credit: Kevin O’Connor

J. Edgar Hoover Building, Washington, DC: Headquarters of the Federal Bureau of Investigation.

Option 2: Place limits on interstate DNA

databanking activities.

If technological and social considerations

appear to need further exploration, Congress

could enact legislation to place limits on all law

enforcement activities related to interstate electronic transmission of DNA test results, could

prohibit FBI activity in the area of database

development or interstate transmission of DNA

information, or both. Such legislation could be

for a limited or an indefinite period, and could

be targeted to investigative databases, population frequency databases, or both.

Adopting a short-term moratorium on any

interstate DNA databanking analysis could mollify some concerned about technological considerations and privacy, but it would limit the FBI

and local agencies in their mandate to fight

crime. Enacting legislation that limits all interstate electronic activities related to DNA typing

would be viewed by many as draconian, although it would be applauded by some concerned about privacy considerations. Limits or

a ban on interstate transmission of DNA test

results would not prohibit a State from storing

DNA test results for crimes within its border, but

cooperation with a neighboring State, for example, via a computer network of DNA results

would be precluded.

Because population frequency databanking is

largely uncontroversial from both the privacy

and technological perspectives, as well as being

considered necessary to improve and refine

reporting of forensic DNA test results, legislation suspending interstate or FBI databanking

activities related to population frequency activities would likely cripple forensic DNA analysis

nationwide.

A moratorium directed solely toward the

FBI’s nationwide investigative DNA databank

could allow time for a full public discussion of

important issues, not only those pertinent to
34 ● Genetic Witness: Forensic Uses of DNA Tests

privacy but also technology-related considerations, including those involving standardization

(see following section). But it might also be

viewed as an unnecessary delay because the FBI

plans to store just DNA profiles involving its

system, which currently involves only noncoding, nondisease-linked DNA. A prohibition on

FBI activities in this area would deny the law

enforcement community the opportunity to implement what it sees as the one of the chief

utilities of DNA typing and a computerized

network of profiles: the ability to link an

unknown biological sample from a crime scene

to a specific individual.

Although legislation that specifically precludes FBI investigative databanking efforts

might not limit State efforts per se, if States had

to provide the telecommunication and, especially, the indexing capabilities necessary for

interstate transmission of test results, the costs

of the system could outweigh the perceived

benefits. Further, absent the FBI, there would be

no clear coordinator of interstate database activities—for prototype development or implementation. It is unlikely that the States could

successfully implement an investigative DNA

databank without Federal support. Thus, adopting this option would at some level hinder DNA

analysis as an investigative tool of law enforcement and effectively eliminate its utility for

cross-jurisdictional purposes.

Option 3: Encourage Federal and State DNA

databanking activities.

Congress could directly encourage DNA databanking by appropriating funds to the Department of Justice, State and local governments, or both. Such funds could be for investigative datafiles or for improved data collection

on population frequency information related to

DNA typing. The Federal Government, through

efforts of the FBI, has an interest in collecting

broad-based information to ensure accurate population frequency data for RFLP analysis of

forensic samples. Congress could direct funds to

State and local laboratories doing DNA typing

that would facilitate the collection and transfer

of individual laboratories’ genetic population

frequencies to the FBI or its designee. Improved

population genetics data enhances DNA analysis of forensic samples. Further, FBI implementation of a national investigative DNA profile

databank would benefit from close coordination

with States in gathering this information. Encouraging immediate implementation of electronic storage and transmission of DNA typing

results for investigative purposes would be

opposed by many—on privacy and technical

grounds—and would require concurrent examination of two other policy issues: standardization for databanking and privacy considerations.

Standardization for Databanking

Whether or not Congress takes action to

intervene in database development for forensic

uses of DNA analysis, the issue of standardization could warrant attention. Standardization is

an issue distinct from setting standards to

achieve quality services. It involves developing

a uniform, national system of certain techniques

to make DNA analyses compatible for exchange

through computer data systems across the 50

States. An effective, nationwide database will

depend on standardization and quality control of

both the test and the computer technologies

necessary to extract and transmit DNA information. Without standardization, the potential for

databanking will be limited unless each organization conducting DNA tests collects the same

type of information. Devising an institutional

means to settle on standardized data is generally

agreed as critical to a successful national DNA

databank, although a few would argue that

methods could possibly be developed to apply

conversion factors to data not obtained through

the standardized protocol. Thus, the issue is

whether the Federal Government should promote standardization of DNA testing to improve

data collection, which would make DNA databanking further amenable for investigative use.

Option 1: Take no action.

Several factors currently operate to encourage

standardization even in the absence of congres-
Chapter I---Summary, Policy Issues, and Options for Congressional Action ● 35

sional action. Because of the high interest in

establishing a network of DNA profiles for

investigative purposes, the incentive is high to

standardize. Still, of the two crime laboratories

doing onsite DNA testing as of August 1989,

one had adopted the Lifecodes methodology,

but the other was switching from Lifecodes’ to

the FBI system.

If Congress takes no action, it is likely that the

current FBI system and future refinements of it

will become the de facto system in the United

States. Several organizations favor adopting the

FBI’s testing system so that a national DNA

profile databank can be achieved. Furthermore,

the FBI also provides two services that encourage standardization using their system: They

currently conduct tests on State and local specimens at no charge, and they offer free training

in their testing methods for State and local

laboratories who choose to establish DNA testing capability onsite.

Option 2: Appropriate funds for States

contingent on adoption of standardized

technology.

Congress frequently uses incentives to encourage certain results from States. Congress

could allocate funds to speed the penetration of

DNA testing and databanking throughout the

country, could tie such grants to quality assurance, and could make those funds available only

to States or localities that agreed to use them for

specific types of testing materials and computer

hardware and software. This action would both

encourage the quality and standardization necessary for successful databanking and provide

Federal funds for forensic uses of DNA typing

in jurisdictions perhaps otherwise unable to

afford it. It might also have the effect, however,

of locking States into a testing technology that

could soon become outdated, and could be

viewed as micromanagement of State criminal

justice affairs. This effect might be mitigated by

delegating to the FBI the authority to regulate

standardization of the initial technology selection and future alterations, rather than standardizing DNA forensic analysis through legislation.

Option 3: Direct the FBI to deny NCIC access

to States that fail to implement a technology

according to a standardized protocol.

Since NCIC exists by legislative authority,

Congress could enact legislation specifying theterrns by which its services are made available

to the States. Depending on the perceived

importance of DNA testing to criminal justice,

total or partial access to NCIC could be predicated on compliance with standardization. At

one extreme, Congress could direct the FBI to

deny access to all NCIC files, including fingerprint, vehicles, or other files, to any State that

fails to comply with federally directed DNA

standardization. Or Congress could direct the

FBI to construct NCIC files to hold only

standardized information and make no provisions for handling nonstandardized data. Such

an action would deny the use of DNA files to

States that fail to standardize, while allowing

them to have continued access to other NCIC

files.

Privacy Considerations

Civil liberties and privacy considerations are

important policy issues often raised separately

in the context of genetic information or computer technologies. Forensic applications of

DNA typing involve both. Although the question of standards for forensic DNA analysis is

the most pressing issue in this field, policy

decisions by Congress and the executive branch

on privacy considerations loom and are likely to

be more controversial.

Citing the inherent intimacy of genetic information, the current and developing ability to test for

personal information other than unique identity,

and the difficulties of maintaining confidentiality in a computer network, experts raise concerns that genetic information could be used

unfairly to deny future benefits to persons with

criminal records, and that genetic profiling

within the criminal justice sphere could lead to

wider testing and broader threats to privacy.

And the probability that DNA will be stored in

some form, in addition to test results, heightens

concern about an increased likelihood that
36 ● Genetic Witness: Forensic Uses of DNA Tests

stored DNA will eventually be probed for

genetic information beyond identity.

Option 1: Take no action.

By taking no action, Congress delegates to the

FBI and State and local governments several

civil liberties decisions: Specifically, the appropriate level of privacy protection to be afforded

the collection, use, and storage of DNA data or

samples. Since existing privacy laws and regulations among these jurisdictions differ widely,

their application to DNA records will span the

range of privacy that States currently provide for

other types of criminal records—from closely

Photo credit: Alexandria, VA

held within the criminal justice community to

freely available to the public. State laws passed

and proposed to collect material for DNA typing

from individuals and to store samples, results, or

both also would continue and will vary from

jurisdiction to jurisdiction.

Option 2: Establish a commission to study the

privacy considerations related to collection,

use, and storage of genetic information and

material.

The specter of a de facto, widely accessible

national database indexed by a genetic identifier

and containing personal genetic information
Chapter 1-Summary, Policy Issues, and Options for Congressional Action ● 37

attends most proposals for genetic databanking,

whether the proposal addresses forensic applications of DNA tests, medical diagnostics, or

efforts to map the human genome. Concerns

raised about genetic databases evolve from a

strong tradition of protecting individual liberty

and compete with arguments supporting the

utility of genetic databanking. Congress could

establish a commission to study the broader

social implications of DNA databanking. Since

only preliminary steps have been taken to

establish genetic databanks within the law enforcement community, a study of these competing concerns, which could be designed to

merely clarify the issues or to try to reach

consensus on them, could be a timely and useful

addition to the debate. A commission charged

with examining privacy considerations of collecting, using, and storing genetic information

could also evaluate privacy issues about DNA

testing proposed beyond criminal justice applications, including, for example, typing military

personnel or DNA typing as a tool for missing

children.

By taking a lead in fostering discussion about

these issues, Congress could preempt some

criticism that DNA databanking proceeded without adequate consultation of the public. Unless

the commission acted in a timely manner,

however, Federal and State endeavors would

continue unabated. And, depending on the outcome of the commission’s work, State efforts

and conclusions could be preempted.

Option 3: Allow DNA test results to be

databanked, but prohibit storage of DNA.

One particularly acute civil liberties concern

is that current and future DNA-based tests for

genetic diseases and predispositions will be

used on forensic samples and their results stored

in Federal or State computer databases. In

particular, the probability that DNA samples

will be stored in addition to test results heightens

concern about the increased likelihood that

stored DNA samples will eventually be probed

for genetic information beyond identity. Congress could enact legislation that expressly

allows only planned FBI efforts to databank

RFLP patterns for identification purposes to

proceed, but that limits from whom samples can

be taken for analysis and prohibits DNA sample

storage by the FBI and other forensic facilities.

Such legislation could be perceived by many

as a step to ensure that personal genetic information beyond DNA profiles does not find its way

into centralized computer data files that could

have adverse effects on an individual’s future,

including employability or insurability. Scientific and technological developments in molecular biology and genetics, including efforts to

map and sequence the human genome, are

proceeding rapidly, however. Prohibiting law

enforcement officials from storing DNA would

preclude them from applying new technologies

or probes to reprofile individuals with state-of-theart methods. Further, crime scene samples are

presently retained by each jurisdiction until their

value as evidence no longer exists. Because

today’s technology allows near-permanent storage of some types of suspect or victim evidence,

distinguishing between storing actual DNA and

storing evidence containing DNA is impossible.

Thus, Congress might need to consider a timeframe

beyond which evidence samples could not be

stored, which could hamper criminal investigations. Finally, restricting DNA storage could

result in a databank of information locked into

a dinosaur technology, or one with varying

profiles depending on when an analysis was

performed.

Option 4: Limit the type of genetic information

that can be stored in federally supported

systems.

Opponents of DNA databanking frequently

cite the ability of DNA tests to reveal more than

unique identity-e. g., genetic conditions, predisposition to diseases, or, in the future, behavior characteristics—as a primary reason for their

objections. They fear that identity testing could

lead to full probing of an individual’s DNA

samples, with subsequent storage of sensitive,

medically informative details in databanks that
38 ● Genetic Witness: Forensic Uses of DNA Tests

cannot or will not be protected from unauthorized access.

Congress could enact legislation to prohibit

the FBI from supporting storage or transmission

of the results of DNA tests that probe anything

other than portions of the human genome that

are both noncoding and not associated with

disease genes. (Both criteria, because many

noncoding, ‘‘junk’ regions of DNA can be

medically informative). Racial or ethnic identifiers could remain in the system, if Congress

deems such distinctions as important for population statistics or other purposes. Details that

could be precluded as DNA probes become

available range from health factors to eye color.

Legislation that specifically precluded the

FBI or any Federal entity from participating in

the interjurisdictional transmission of results of

DNA tests for anything other than noncoding,

medically uninformative DNA might assuage

the fears of some. Currently, the FBI uses only

DNA analyses that test nondisease-linked DNA,

thus such legislation would have no ill effect on

the FBI’s intentions to employ DNA databanks

as investigatory tools. If Congress adopts this

option, it would also limit the utility of storing

DNA samples except to the degree that they

were saved to accommodate technical advances

in identity testing. On the other hand, limiting

information only to noncoding DNA patterns

could hinder law enforcement efforts as scientists elucidate genetic details such as eye color

or hair color. Confining electronic storage to just

“junk” DNA also would prevent the use of

many well-characterized and highly polymorphic genetic markers that are not noncoding

sequences, but that could be of significant use in

forensic DNA analysis.

Option 5: Place more stringent restrictions on

access to genetic information stored in federally

supported databanks.

The Freedom of Information Act does not

compel the FBI to release sensitive personal

information contained in criminal history files,

but neither does the Privacy Act compel the FBI

to keep such information confidential. The FBI

has adopted regulations to protect the privacy of

criminal history information, but compliance

with these regulations is largely voluntary. In

recent years, Congress has authorized Federal

cooperation with criminal history checks on

potential employees in several fields. The combined effect of existing law is to make it

possible, if not likely, for employers, insurers,

and noncriminal-justice government agencies to

gain access to genetic information of persons

with criminal records if such information is

contained in the NCIC.

To ensure that information collected by the

law enforcement community is used solely for

intended uses, i.e., criminal justice identification or investigations, Congress could prohibit

dissemination of genetic information stored in

federally supported databanks outside the law

enforcement community. Congress also could

prohibit private contractors from possessing

such data, and, in addition, could enact legislation to require the FBI to place special restrictions on access to genetic information and

include sanctions for noncompliance-e. g., denying NCIC access to States that fail to abide by

the guidelines for protection of genetic information. Singling out genetic information for specific limitations on dissemination would indicate that Congress believes genetic data to be

special, requiring new or extended protection if

placed in computer databanks. Adopting this

option, however, would likely be viewed by

some as unduly burdensome intervention in an

area where adequate protection and restriction

exists.
Chapter 2

The Technologies and

Their Applications

“Scientifically speaking, it’s like discovering a new star. It’s a breakthrough in our lifetime.”

John Williams, Police Chief

Woodlawn, Ohio

Mar. 7, 1988

‘‘Many times, today’s science is tomorrow’s fiction.”

Hal Uhrig, Defense Attorney

Orlando, Florida

Apr. 17, 1989

“You can prove almost anything with the evidence of a small enough segment of time. How often in

the search for truth the answer of the minute is positive, the answer of the hour qualified, the answers of the

year contradictory. ”

Edwin Way Teale

1899-1980
CONTENTS

Page

WHAT IS DNA? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .41

HOW DOES DNA DIFFER FROM PERSON TO PERSON? . . . . . . . . . . . . . . . . . . . . ....42

WHAT TECHNOLOGIES ARE USED FOR DNA TESTING? . . . . . . . . . . . . . . . . . . . . ..43

Restriction Fragment Length Polymorphism Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43

Polymerase Chain Reaction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47

Emerging Technologies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . * . . .,, ...*.,... 50

DNA TYPING: PRESENT AND FUTURE USES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 50

FINDINGS AND SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . 52

CHAPTER 2 REFERENCES . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . 53

Boxes

Page

2-A. Terminology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . 41

2-B. DNA Differences in Humans: Variable Number of Tandem Repeats 44

2-C. The Polymerase Chain Reaction: Step-by-Step . .

. . . . . . . . . . . . .

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49

2-D. Mitochondrial Genes and Forensic Identification . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 51

Figures

Page

2-1. The Structure of DNA . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 42

2-2. Chromosome Profile of a Normal Human Female . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43

2-3. Detailed Schematic of Single-locus Probe RFLP Analysis . . . . . . . . . . . . . . . . . . . . . . . 45

2-4. DNA Patterns Using a Multilocus Probe . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47

2-5. DNA Patterns Using a Single-locus Probe . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47

2-6. The Polymerase Chain Reaction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48

2-7. DNA Typing Using PCR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 50

Table

Page

2-1. Restriction Enzymes Currently Used in Forensic Tests . . . . . . . . . . . . . . . . . . . . . . . . . . 46
Chapter 2

The Technologies and Their Applications

Genetics is the study of factors that influence the

inheritance of specific traits. People have recognized

since time immemorial that like begat like, that

individuals share familial features yet have distinct

characteristics. In 1865, Austrian monk Gregor Mendel postulated that discrete biological units-genes—

were responsible for both the maintenance and

variation of certain characteristics from one generation to the next. Genetic uniqueness is a fact of life.

Historically, the thrust of research and applications in human genetics focused on medical uses,

especially determination and diagnosis of genetic

diseases. Since the turn of the century, however,

forensic scientists have exploited human genetic

variability in the analysis of evidence from crime

scenes. Blood tests have been used as evidence in

paternity disputes since the 1920s (18). Yet while

these traditional genetic landmarks (often referred to

as markers) have been useful for excluding suspects

(17,19,20,21), positive identification using these

markers has been elusive because they occur in

limited combinations. In contrast, much greater

variation exists and can be detected with deoxyriboBox 2-A—Terminology

Forensic science involves the application of many

scientific expertise (e.g., biology, chemistry, toxicology, medicine) to situations concerned with

courts of justice or public debate. This report uses

the term “forensic applications” to refer to potential uses of recombinant DNA technologies to

identify individuals.

The increased acceptance and popularization of

recombinant DNA techniques for forensic uses,

especially criminal investigations, have led to some

confusing terminology. In particular, some commentators have adopted the terms “genetic fingerprinting, “ “DNA fingerprinting,” or “DNA prints” as

generic phrases to describe all techniques, while

others use the terms to describe specific techniques

by specific companies. This report uses the terms

“DNA testing,” “DNA identification,” “DNA

analysis, “ “DNA typing,” and “DNA profiling”

to describe the two current and any future technologies-the practical goal of which is unique association or exclusion determined by DNA-based tests.

SOURCE: OfiIce of Technology Assessment 1990.

nucleic acid (DNA) markers-hence the potential

for individualization (box 2-A).

This chapter briefly outlines the biological basis

for using DNA to differentiate individuals, summarizes concepts of recombinant DNA technology, and

discusses the two principle techniques currently

employed in forensic applications. It also explores

future recombinant DNA technologies that could be

applied to forensic science. Finally, the chapter

describes the wide range of nonmedical applications

for which the techniques have or could be used.

Other Office of Technology Assessment (OTA)

reports address issues of related topics in human

genetics and biotechnology (57,58,59,60).

WHAT IS DNA?

Faithful transmission of genes is common to the

entire spectrum of living organisms. It is the result

of the remarkable capacity of a living cell to reproduce, encode, and translate a chemical into its

ultimate biological fate. Except in rare instances, the

chemical responsible for the maintenance and expression of inherited characteristics is DNA.

As the chemical dispatcher of genetic information, DNA’s structure resembles a twisted ladder,

referred to as a double helix (figure 2-l). DNA in all

organisms consists, in part, of four chemical subunits commonly called bases. These four bases—

guanine (G), adenine (A), thymine (T), and cytosine

(C)-are the genetic alphabet. The bases normally

pair predictably—A with T, and G with C—to form

the rungs of the double-stranded DNA helix, and

these combinations are termed base pairs. Their

unique order, or sequence, in the helix determines

the structure of proteins and the regulation of cell

activities. Regions of DNA not involved in such

capacities, as far as can be determined, are called

noncoding DNA.

In humans, DNA is associated with protein in

organized microscopic bundles called chromosomes.

Humans have 46 chromosomes-1 pair of sex chromosomes (two X chromosomes for females; an X

and a Y for males) and 22 pairs of autosomes.

Individuals receive 22 autosomes plus one X chromosome from their mothers, and 22 autosomes plus

either an X or a Y from their fathers. Figure 2-2

4 1 –
42 ● Genetic Witness: Forensic Uses of DNA Tests

illustrates the chromosome profile of a normal

female.

DNA in humans is found in all body cells except

red blood cells. (Blood contains many cell types in

addition to red blood cells, such as white blood cells,

and it is from these cells that DNA can be obtained.)

With few exceptions (that can only be detected

through specific, sophisticated laboratory methods),

the composition of a person’s DNA does not vary

from cell to cell, except in egg and sperm cells.

These cells have half the complement of DNA

present in other body cells.

Thus, a forensic scientist can examine DNA from

blood (35) or tissue from hair roots and, if the

specimens are form the same person, find the same

patterns. Similarly, DNA patterns can be matched

between DNA isolated from sperm on a vaginal

swab or semen stain and DNA from a rape suspect’s

sample. With semen, the DNA composition differs

from sperm-to-sperm, but the DNA profile is a

composite of thousands of DNA molecules from

thousands of sperm and therefore reveals a man’s

overall profile (24).

HOW DOES DNA DIFFER FROM

PERSON TO PERSON?

Virtually the entire complement of genetic material resides in an individual’s chromosomes. This

complement, or genome, consists of about 3.3 billion base pairs. Only a fraction of these 3.3 billion

base pairs in each person differ between any two

individuals (approximately 3 million on average).

The challenge to forensic DNA analysis is to detect

some of these differences.

To find these differences, scientists rely on the

fact that “addresses” can be assigned for genes or

DNA sequences. An address, or physical location, of

a gene or sequence on a chromosome is called its

locus (from Latin for place). Chromosomes contain

many loci occupied by different genes or DNA

sequences. For example, the locus for the gene

responsible for sickle cell anemia is on chromosome

11, and the locus for cystic fibrosis is on chromosome 7. Except for the sex chromosomes, normal

individuals have two copies of any given gene or

sequence at a particular locus because human chromosomes come in pairs-one copy inherited from

the mother and one from the father.

Figure 2-l—The Structure of DNA

SOURCE: Office of Technology Assessment, 1990.

Genetic variants at a particular locus are called

alleles. At each locus along pairs of autosomes, an

individual can have two identical, or two different,

alleles. If the alleles are the same, the person is said

to be homozygous for that particular locus. If the

versions differ, the person is said to be heterozygous.

Even though one individual has at most two

alleles at a given locus—again, one copy inherited

from the mother and one from the father—additional

forms can exist in other individuals. That is, many

different alleles can exist for that same locus within

the population. When multiple alleles exist at a

particular locus—as in the case of the common ABO

red blood cell typing system—the genetic variant is

referred to as a polymorphism. Polymorphisms (i.e.,

genetic differences among people) are at the heart of

forensic applications of DNA typing.

Some addresses (loci) in humans have as many as

50 to 100 different forms (alleles). DNA tests are

designed to detect these highly polymorphic loci and

to distinguish among the alleles that exist there.

DNA analysis does not examine an individual’s

entire genome, but rather a snapshot of a specific

area. And because DNA from any two individuals is

more alike than different, relatives or unrelated

persons can share the same allele or alleles at any
Chapter 2—The Technologies and Their Applications ● 43

Figure 2-2—Chromosome Profile of a Normal Human Female

Chromosomes from humans can be matched into 22 pars (the autosomes) plus one pair of sex chromosomes. In this figure, both sex

chromosomes are X. A normal male chromosome complement would include the 22 pairs plus an X and a Y. One of each type of autosome

(1-22) is inherited from an individual’s mother, and one from the father. Chromosome profiles such as this one do not reveal which particular

chromosome within the pair derived from which parent.

SOURCE: The Genetics & IVF Institute, Fairfax, VA, 1990.

given locus-even highly polymorphic loci. Thus,

forensic uses of DNA tests depend on examining

several loci to determine whether DNA types

from two different samples match.

WHAT TECHNOLOGIES ARE USED

FOR DNA TESTING?

DNA testing technologies encompass an array of

molecular techniques developed since the early

1970s, and designed to examine the detailed structure, function, and inheritance patterns of DNA.

Applications of two of these technologiesrestriction liagment length polymorphism (RFLP)

analysis and amplification of DNA by polymerase

chain reaction (PCR)-have found their way into

courtrooms in the United States and abroad. RFLP

analysis is most widely used, although PCR, which

is combined with other genetic techniques in forensic analysis, has been used in some casework (see

app. A).

Restriction Fragment Length

Polymorphism Analysis

Examination of DNA from individuals, other than

identical twins, reveals that variations in DNA

sequence occur, on average, about once every thousand base pairs. These variations exist in both

coding and noncoding regions of DNA, and although most do not lead to functional changes in the

protein products of genes, a few can cause disease.

In 1978, two scientists demonstrated this phenomenon by showing that a DNA sequence was altered in

certain individuals, and that this change in the DNA

correlated with the inheritance of sickle cell disease

(34).
44 . Genetic Witness: Forensic Uses of DNA Tests

This important discovery led researchers to propose that these natural differences in DNA sequence

@polymorphisms) could be used as markers to track

genetic traits through families (5,32). Further research revealed that a specific DNA pattern could be

associated with a specific individual-to the extent

of positive association (23,29,30,31,66). Although

initial research looked at changes associated with

disease genes, the majority of the DNA variations

now identified, including the majority of markers

used in forensic identification, are not linked to

disease.

How were these markers discovered and subsequently exploited? At the core of detecting the types

of DNA polymorphisms just mentioned are enzymes

called restriction endonucleases, or restriction enzymes. Sometimes characterized as molecular scissors, each type of restriction enzyme recognizes a

enzymes to uncover genetic variants. In forensic

applications, RFLP analysis detects size differences

of DNA fragments at specific loci (box 2-B)

(29,30,46,64,65,66). It does not directly reveal sequence differences.

Scientists call the basic procedure used in RFLP

analysis ‘Southern blotting’ or ‘Southern hybridization,’ after the person who developed the technology (54). Generally speaking, it includes the following major steps (figure 2-3):

● isolating DNA from the specimen to be examined;

. cutting the DNA into discrete pieces with a

restriction enzyme;

. separating the different sized DNA pieces using

a process called gel electrophoresis;

. transferring the DNA from a gel to a nylon

membrane (producing the ‘‘Southern blot’ ‘);

short DNA sequence specific for that enzyme and ● applying, or- hybridizing, a DNA probe to the

cuts DNA only at that site. RFLP analysis uses these membrane; and

Box 2-B—DNA Differences in Humans: Variable Number of Tandem Repeats

Comparison of two randomly chosen individuals’ DNA yields many more similarities than differences, but

scientists have identified some of the loci where genetic variation exists. Some variants, or polymorphisms, are

single-base pair alterations. Other loci involve more base pairs and take on many forms. In forensic uses of DNA

tests, this latter type of polymorphism is most important.

In 1980, scientists discovered that short, identical segments of DNA lined head to tail in a repeating fashion

are interspersed throughout the genome. Both the number of base pairs and the actual DNA sequence that comprise

the repeated unit can vary from locus-to-locus and chromosome-to-chromosome. Some variants are found at

multiple loci, others at only one site--a single-locus-in the human genome, Most importantly, the number of

repeated units varies between individuals. Such sequences, or regions of repeated units, are called variable number

of tandem repeats, or VNTRs. VNTRs account for the size differences that can be measured by RFLP analysis, and

the wide variation in the number of repeats within the human population at VNTR loci is the critical element for

forensic DNA analysis. (Single-locus v. multilocus RFLP analysis is described in a following section.)

For example, one VNTR in humans consists of a 17-base pair unit repeated from 70 to 450 times at one locus

in the genome. Thus, the total number of base pairs would vary from 1,190 (17 x 70) to 7,650 (17 x 450), Because

chromosomes come in pairs (one inherited from the mother and one from the father), individual A could have 74

repeated units at one locus and 300 repeats at the other, yielding two measurable bands in a RFLP analysis.

Individual B, a sibling, might also have 74 repeats at one locus, but the other chromosome might have 145 repeats,

which would yield a RFLP pattern with one similar and one divergent band. An unrelated individual C might have

repeats of 83 and 216. A forensic scientist measures size differences at this locus, not direct sequence variation, to

identify the distinctions in the DNA patterns of these individuals.

However, the number of forms (alleles) of a VNTR at a particular locus is limited. Siblings D and E, for

example, could be expected to have the same pattern at this particular locus 25 percent of the time if both parents

are heterozygotes. Similarly, unrelated individual F could, by chance, share either or both fragments in their pattern.

Thus, a DNA fragment pattern derived from examining one locus does not enable the individualization of a DNA

specimen. Rather, the power of DNA testing results from analyzing several VNTR loci throughout the human

genome. A number of people will have the same fragment at one VNTR locus, but the chances of more than one

person having the same combination of DNA fragments when 4,5, or 6 different VNTR loci are analyzed becomes

vanishingly small. Combining the data from each of these snapshots is one of the keys to statistically positive

association.

SOURCE: OffIce of Technology Assessment 1990.
Chapter 2—The Technologies and Their Applications ● 45

Figure 2-3—Detailed Schematic of Single-locus Probe RFLP Analysis

the sample

scissors and cut the DNA

into fragments

Each individual restriction

enzyme cuts at its own

specific sequence 1 .

DNA chain

smaller +

B The DNA fragments are

separated by size into

bands in a gel

Gel

(screening by size)

Nylon - BLOTTING -

The DNA fragments are

onto a nylon membrane

(Southern blotting)

SOURCE: Office of Technology Assessment, 1990.

Single-locus probes with

varied sequences exist and key

with areas of specific DNA.

One single-locus probe PROBE

is made radioactive,

Many copies of the probe

A B c

X-ray film is placed over the membrane to detect and

image the radioactive probe pattern.

Using different probes in sequence demonstrates

whether the specimen sample matches the suspect type.

SINGLE-LOCUS PROBE PATTERN

When using single-locus

probe analysis one must

use different probes

to obtain identity.
46 . Genetic Witness: Forensic Uses of DNA Tests

● visualizng the location of the probe’s hybridization, and hence the DNA pattern—for radioactive probes, usually by exposing the membrane to x-ray film, a process called autoradiography.

DNA Isolation and Restriction Enzyme Digestion

Proper sample collection and storage of evidentiary materials are critical for successful forensic

RFLP analysis. Various environmental factors can

affect the quantity and quality of DNA isolated from

evidentiary stains, sometimes leading to degradation, or breakdown, of the DNA in the sample

(43,44). Successful RFLP analysis in forensic casework hinges on obtaining large, intact (high molecular weight) DNA from case specimens.

Once isolated, a small amount of the sample is

generally tested to ascertain the general quality and

quantity of the DNA. If both are sufficient, a portion

of the DNA is then cut, or digested, into discrete

flagments with a specific restriction enzyme. This

step, digestion with a particular restriction enzyme,

is the first element in establishing a DNA profile

based on size polymorphisms. Using different enzymes leads to different DNA patterns for the same

individual. At this time, RFLP systems used by the

two major commercial laboratories and the Federal

Bureau of Investigation (FBI) each rely on different

restriction enzymes (table 2-l). (See chs. 3 and 5

for discussion of standardization.)

Gel Electrophoresis and Southern Transfer

Because DNA digested with a restriction enzyme

creates thousands of DNA fragments ranging in size

from a few to tens of thousands of base pairs, the

pieces must be separated by size through a process

called gel electrophoresis. In this process, the mixture of DNA fragments is placed in a semisolid

Table 2-l—Restriction Enzymes Currently Used in

Forensic Tests

Basic DNAsequenoe

Laboratory Enzyme recognized

Cellmark . . . . . . . . . Hinfl ---GANTC---a

---CTNAG---

FBI . . . . . . . . . . . . . . Haelll ---GGCC--

---CCGG--

Lifecodes . . . . . . . . Pst I ---CTGCAG---

---GACGTC---

aN/N represents any base pair.

SOURCE: Office of Technology Assessment, 1990.

matrix, called a gel, and exposed to an electric field.

Because the chemical makeup of DNA gives it a net

negative charge, the DNA fragments travel through

the pores in a gel toward a positive electrode. The gel

acts as a sieve, with large DNA fragments moving

more slowly than small ones. Thus, the mixture is

separated, or resolved, according to size. In RFLP

analysis of human DNA, the numerous fragments

are laddered continuously along the entire length of

the gel, and any single DNA fragment cannot be

visualized without further effort.

After a period of time, the electrophoresis is

stopped and the DNA transferred out of the gel onto

a nylon membrane in a process called Southern

transfer. The nylon membrane, or Southern blot,

retains the DNA in the orientation obtained in the gel

after electrophoresis.

Forensic applications with RFLP analysis currently employ a substance called agarose to form the

gel foundation. Small DNA fragments can be separated through another substance, acrylamide, and

advances in the method could increase use of this

material in forensic casework (2).

Probe Hybridization and Fragment

Visualization

After the nylon membrane has been prepared,

DNA patterns are revealed by using molecular tools

called probes. Probes are short, single strands of a

known DNA sequence. Scientists adjust conditions

so that probes will seek out and bind, or hybridize,

to their complementary sequence among the thousands of sequences that exist on a nylon membrane.

For example, a probe with the sequence -G-A-T-CC-T-A-C-G-T-C-C-A-A- will find pieces of DNA

on the membrane with its complementary sequence

-C-T-A-G-G-A-T-G-C-A-G-G-T-T-.

Thus, DNA probes can be thought of as reporter

molecules that seek out and bind to their complementary sequence on the Southern blot. DNA probes

in forensic RFLP analysis are typically tagged with

a radioactive label. This radioactive label facilitates

the visualization of the particular fragment of DNA

that the probe bound to on the Southern blot. By

exposing the nylon membrane, or blot, to apiece of

x-ray film (or other detection system) after hybridization of the probe, scientists can determine which

specific fragment the probe identified from among

the thousands in a sample of human DNA. The

fragment detected by the probe is actually visualized
Chapter 2—The Technologies and Their Applications ● 47

as a dark band on the transparent x-ray film. Its size

can be approximated by comparing it to pieces of

DNA of known length that were electrophoresed on

the gel along with the sample.

In addition to the restriction enzyme used, probes

are the second key element in determinin g what an

individual’s DNA profile will look like-i. e., polymorphisms are detected by particular restriction

enzyme-probe combinations. For example, if restriction enzyme A and probe A are used on a DNA

sample, two restriction fragments might be revealed,

one 250 base pairs in length, the other 600. Restriction enzyme A and probe B might detect a different

polymorphism, yielding fragments of 2,300 and 900

base pairs for the same individual. Similarly, a third

pattern—fragments of 370 and 450 base pairs—

might be revealed by restriction enzyme B in combination with probe A. Choice of restriction enzyme

and probes affects the DNA banding pattern of each

individual’s DNA sample. Hundreds of probes exist;

several are used in forensic casework. Chapter 3

discusses issues surrounding the number and types

of probes that are most appropriate for use in DNA

profiling, as well as protocols for determining whether

two DNA fragments are of equivalent size.

Two classes of probes are used in forensic applications of RFLP analysis. Multilocus probes recognize and bind to several locations throughout the

human genome and reveal a complex DNA banding

pattern (figure 2-4). In 1985, a case in the United

Kingdom used multilocus probe analysis and became the first use of a DNA technology in a forensic

case (29). Multilocus probe analysis in the United

States is used by one company, which confines it to

paternity examinations (although it has great potential for use in veterinary and agricultural applications). The second class of probes used in forensic

RFLP analysis identities a unique genetic address, or

single locus. Under defined conditions, single-locus

probes generally identify one, two, or a few bands

out of the thousands bound to the Southern blot

(figure 2-5). Single-locus RFLP analysis is currently the most widely applied DNA technology

in forensic casework in the United States.

Polymerase Chain Reaction

The FBI estimates that DNA profiles using single10CUS RFLP analysis can be obtained from a fresh,

dried blood stain approximately the size of a dime

and a semen stain about the size of a pencil eraser

Figure 2-4—DNA Patterns Using a Multilocus Probe

Autoradiogram of restriction fragment length patterns using a

multilocus DNA probe (33.15).

SOURCE: Cellmark Diagnostics, Germantown, MD, 1990.

Figure 2-5—DNA Patterns Using a Single-locus Probe

SOURCE: Federal Bureau of Investigation, 1988.

(36); others report success with smaller stains (22).

Many forensic specimens, however, are smaller,

aged, or have been exposed to extreme environmental conditions that damage DNA and make

standard RFLP analysis uninformative. For these

types of samples-when the quality and quantity of

DNA is unsuitable for RFLP analysis—a different

DNA technology, the polymerase chain reaction

(PCR), (45,50,51,52) can sometimes surmount these
48 ● Genetic Witness: Forensic Uses of DNA Tests

difficulties and permit the examination of biological

evidence (12,15,62).

In some respects, PCR can be thought of as

molecular photocopying (figure 2-6). It uses repeated cycles to reproduce a target area of DNA until

enough copies are available for analysis using Southern hybridization or other techniques. Thus PCR

itself is not an analytic tool, rather it facilitates

forensic (as well as other) applications by allowing

a scientist to take a sample of DNA, which would

generally be insufficient to detect the characteristics

of the DNA, and amplify it until enough copies are

available for further analysis.

Briefly, PCR involves using two specific sequences, called primers, that flank the area the

scientist wants to copy. The scientist then sets

conditions in the reaction that allow new copies of

the DNA of interest to be produced from the primers.

Because the products generated in one sample can

serve as templates in the next cycle, the number of

amplified copies doubles with each cycle. Thus, 20

to 25 cycles of PCR potentially yield about a

millionfold reproduction (box 2-C).

Currently, one DNA region is being used in PCR

applied to forensic specimens, the human leukocyte

antigen (HLA) DQxct-1 gene, although several others

are being examined for their potential utility in

forensic casework (12,15). The HLA DQ x-1 locus,

like its related genes responsible for tissue transplantation rejection, is polymorphic, with 21 different

typing possibilities detectable. Overall, the probability of distinguishing between two people chosen at

random using this system is 93 percent (62). In

contrast, the probability using the conventional red

blood cell typing system is 60 percent (1,53).

The HLA DQ x-1 system distinguishes people by

detecting which genetic bases---G,A,T,arere present at certain sites in the allele, rather than measuring

the size of DNA fragments, as in RFLP analysis.

Instead of gel electrophoresis, the process in forensic

casework employs what is called a‘ ‘reverse dot-blot

hybridization” (figure 2-7). Some argue that this

method is more straightforward because the tests do

not define alleles on the basis of size (i.e., mobility

through a gel), but are theoretically designed to give

“yes’ ’/’’no’ answers. In practice, however, the

results can require interpretation for some case

samples (36). Finally, because PCR generates large

amounts of DNA, analysis need not involve radioactive materials.

Individual A Individual B Unknown C

AMPLIFICATION

(Molecular Photocopying of DNA)

Each sample is amplified

manually or in a machine.

Original DNA Sample

1 1

/-.”\ . -Denature and Synthesiz e

New DNA -

-\ -Denature and Synthesize

Multiple copies of DNA Sample

one million-fold reproduction)

The amplified DNA is

challenged with a DNA

probe that has a key

sequence specific to an \

The membrane is

washed and floated

in a color developer

(most frequent is 1 in 5,

least 1 in 800).

SOURCE: Office of Technology Assessment, 1990.
Chapter 2—The Technologies and Their Applications . 49

Box 2-C—The Polymerase Chain Reaction: Step-by-Step

As mentioned earlier, for the most part, all body cells contain the same DNA. Thus, DNA molecules in cells

must regenerate copies of themselves each time a cell divides. DNA in all living cells continuously reproduces

through a process called replication. During this process, the original strands in the DNA double helix unwind and

serve as templates for the building of new, complementary strands, resulting in two identical copies of the original

DNA molecule.

The polymerase chain reaction (PCR) is an in vitro technology based on the principles of replication. First

described in 1985, PCR is now widely performed in research and clinical laboratories, and many see it as a critical

DNA technology for forensic identification.

PCR involves the repeated duplication of a specific area of DNA. For example, consider the following

sequence of DNA to be amplified using PCR:

-T-T-C-G-A-T-G-G-A-T-A-A-A-C-C-G-A-

-A-A-G-C-T-A-C-C-T-A-T-T-T-G-G-C-TIn order to perform PCR, the sequence of the DNA at both ends of the region of interest must be known, and

their complimentary sequences available as short pieces of purified DNA called primers. One primer must be

complementary to the end of one strand the second to the opposite end of the other strand. In this case, the primers

would be -A-A-G-C for the top strand of DNA and -C-C-G-A for the bottom strand. These two specific sequences

flank the area the scientist wants to copy, and serve as the foundation to which bases can be added and the DNA

strand copied. In PCR, the temperature of the sample containing the DNA to be amplified is raised to about 95° C,

which results in the separation, or melting, of the double helix to yield single-stranded pieces:

-T-T-C- G-A-T-G-G-A-T-A-A-A-C-C-G-A-

-A-A-G-C-T-A-C-C-T-A-T-T-T-G-G-C-TCopies of the primers are then allowed to hybridize to the DNA of interest, by lowering the temperature:

-T-T-C-G-A-T-G-G-A-T-A-A-A-C-C-G-A-

-A-A-G-C+

-A-A-G-C-T-A-C-C-T-A-T-T-T-G-G-C-T-

+C-C-G–A -

The scientist then sets conditions in the reaction that allow new copies of the DNA of interest to be produced

from the primers (referred to as primer elongation). That is, DNA polymerase (a heat-stable version of the enzyme

from Thermus acquaticus, a thermophilic micro-organism isolated from a hot spring in Yellowstone National Park)

starts at the end of the primers and using bases (G,A,T,C) that are part of the reaction mixture, synthesizes

complementary strands of each of the two single strands to yield two strands from the original one:

-T-T-C-G-A-T-G-G-A-T-A-A-A-C-C-G-A

-A-A-G-C-T-A-C-C-T-A-T-T-T-G-G-C-T----

-A-A-G-C-T-A-C-C-T-A-T-T-T-G-G-C-T-

----T-T-C-G-A-T-G-G-A-T-A-A-A-C-C-G-AThus, one cycle of PCR has occurred, doubling the number of DNA copies from the original area of interest.

After this first round of synthesis, and for each subsequent cycle, the temperature of the reaction is raised to

approximately 95° C to separate the DNA strands. Primers are again allowed to hybridize to the strands, and DNA

synthesis allowed to occur. After a second cycle of PCR, the two strands become four, and after 20 to 25 cycles of

PCR, the original DNA sequence theoretically has been amplified about a rnillionfold. Generally, 20 to 30 cycles

yield enough DNA to perform forensic analysis with one particular genetic locus, the HLA DQ x-1 locus.

SOURCE: OffIce of Technology Assessment 1990.
Figure 2-7—DNA Typing Using PCR

PCR at the HLA DQa-1 locus using a type of dot-blot hybridization

performed by Forensic Science Associates in a rape-murder case.

SOURCE: Cetus Corp., Emeryville, CA, 1990.

In research laboratories, PCR has been used to

examine DNA for a range of novel applications

involving minute or ancient samples. DNA from a

single hair root, cell, or sperm has been amplified

and analyzed (27,40), as have DNA from the remains of a 7,000-year-old body found preserved in

a Florida peat bog (48) and a 17 million-year-old

magnolia tree fossil (25).

Emerging Technologies

RFLP analysis and PCR are only two of a battery

of DNA-based tests that can be used in forensic

identification. For example, DNA typing techniques

that combine principles of PCR and RFLP analysis

are being developed in several laboratories. These

methods apply PCR amplification to regions of

DNA where known variants exist, and would allow

RFLP-type analysis to be performed on increasingly

smaller quantities of forensic samples (8,9,33,63).

Another technique that could prove useful in forensic casework is a form of PCR called multiplex

amplification, which simultaneously examines at

least nine different polymorphic loci (11). Other

research efforts are aimed at enhancing standard

RFLP analysis for criminal casework, e.g., eliminating the use of radioactive isotopes by refining

nonradioactive methods used in other applications

(4,13,14,38,41,56).

Although not in the immediate future, one DNA

technology widely used in research laboratories

could find its way into forensic applications: DNA

sequencing. DNA sequencing would be the ultimate

genetic identification because it directly elucidates

differences in the arrangement of the genetic alphabet (G’s, A’s, T’s, and C’s) among individuals’

DNA. Success in adopting DNA sequencing as a

forensic tool probably depends on geneticists identifying one or more highly polymorphic addresses

(loci) for which DNA sequence data would yield

positive identification among individuals. Although

such loci remain, as yet, unidentified, many believe

that with efforts under way to map and sequence the

entire human genome (59), identifying such loci is

only a matter of time. Existing automation for DNA

sequencing could provide a boost for this technology, although the cost of such instrumentation could

place sequencing beyond the reach of some public

forensic laboratories.

DNA TYPING: PRESENT AND

FUTURE USES

One advantage of DNA typing techniques lies in

the array of ways they can be used. Many of the

applications provide solutions to practical areas,

yielding information previously unattainable. Compared to both subjective evidence like eyewitness

testimony and objective evidence like traditional

genetic markers, forensic DNA analysis can also

provide more definitive and objective evidence to

assist in the determination of both the innocence and

guilt of persons.

Although traditional genetic tests provide the

potential for a high degree of discrimination among

different individuals, the upper limit is attained

infrequently because of the instability of some of

these markers in aged stains. Moreover, of the

markers that retain their structure and activity in the

dried evidence state, the number of observed or

expressed forms is limited. In practice, the individualization of many evidentiary stains cannot be carried out to any great extent given the present array of

traditional genetic landmarks (6). In general, conventional genetic tests used in forensic casework at

best can associate a suspect to the evidence at about

90 to 95 percent certainty (42). DNA, on the other

hand, is more stable, and the range of genetic

variability revealed through batteries of DNA-based

tests are much broader. Finally, in some cases, an
Chapter 2—The Technologies and Their Applications . 51

advantage of DNA v. conventional testing is that a ●

stain from multiple contributors can be more readily

detected and, perhaps, deciphered (22). ●

●

Thus today, many argue that DNA technologies ●

stand to change the judicial landscape. With

recombinant DNA methods, forensic practitioners ●

isolate and examine DNA from traces of human ●

biological material such as blood, semen, or hair _

roots. As noted, such analyses potentially provide

forensic examiners with the ultimate in discrimination power—the ability to statistically connect samples to the exclusion of all other individuals except

identical twins. On the other hand, questions

about the reliability of forensic DNA analysis

have been raised (see ch. 3) (37,47,55), as have

privacy concerns (see ch. 5).

Nevertheless, the advent of DNA typing techniques has provided opportunities to apply DNA

analysis to a number of situations, including:

human rights abuses, such as people who have

disappeared in Argentina (see box 2-D);

immigration;

missing children;

incidents with multiple casualties (e.g., plane

accidents, war);

settlement of contested wills and estates; and

baby swapping.

Other nonhuman applications include identifying

purloined endangered species, wildlife management

and protection, tracing illegal export of agricultural

products, tracking genetic markers in breeding programs, and documenting pedigree, e.g., in thoroughbred horses. While each of these applications is

likely to have significant impact, the current policy

debates in the United States center on using DNA

typing in criminal and paternity investigations.

Of the thousands of murders and nonnegligent

manslaughter cases in this country (20,675 reported

in 1988) (26), most remain unsolved. Although it is

● criminal investigations, particularly violent too early to gauge the impact of DNA typing on

homicide investigations, estimates comparing case- crimes, such as homicides and sexual assaults,

and serial crimes; work where DNA typing is used v. non-DNA

analysis indicate the effect will be significant (10).

● identification of unknown remains; In fact, DNA tests might not appreciably affect

. paternity determination and child support en- solution rates, but could increase conviction rates

forcement; (39). One analysis, however, suggests that DNA

Box 2-D—Mitochondrial Genes and Forensic Identification

Mitochondria are microscopic watermelon-shaped organelles found by the hundreds in every cell in the body.

Often referred to as the cell’s power supply, mitochondria produce the energy necessary for cellular functions. They

carry their own genetic material-multiple copies of tiny circular pieces of DNA, about 16,500 base pairs total

(compared with the 3.3 billion in a person’s chromosomes).

An unusual aspect of rnitochondrial DNA (mtDNA) is its pattern of inheritance. Whereas individuals inherit

half their chromosomes from their mother and half from their father, mtDNA is passed through the maternal lineage.

That is, an individual inherits mtDNA only from his or her mother.

One particular region of mtDNA, known as the D-loop, has been found to be highly variable between unrelated

individuals. It is generally stable across generations, however, so a child’s version of this region almost never varies

from his or her mother, sisters, brothers, or even grandmother, maternal aunts and uncles, and other genetic relatives

on the maternal side.

Recently, scientists have taken advantage of PCR and mtDNA inheritance patterns to identify children

kidnapped in Argentina between 1975 and 1983. In all, more than 9,000 people ‘disappeared” in Argentina during

this 8-year period, including more than 200 infants+ More than 120 pregnant women also were kidnapped, with most

forced to bear their children in captivity before being killed. The children, now between 10 and 12 years old, were

often sold on the black market. Today, using PCR to amplify the D-loop region of mtDNA, kidnapped children are

being matched to surviving biological relatives because the mtDNA pattern of a surviving child is the same as any

maternal relative, including any first cousins who are children of a maternal aunt.

SOURCE: OffIce of Technology Assessment, 1990, based on M.-C. King, “Genetics and the Disappeared: The Seareh for Two Generations,”

presentation at the 155th Annual Meeting of the American Association for the Advaneexnent of Scienee, San Francisco, CA, January

1989; and M. Speeter, “Microbiology Reunites Families: Imng-Lost Children’s Gems Match Parents,” The Washington Post,

p. All, Jan. 17, 1989.
52 ● Genetic Witness: Forensic Uses of DNA Tests

Photo credit: Lawrence National Laboratory, CA

Direct image of a chemically unaltered strand of DNA

obtained using a scanning tunneling microscope. (Light

microscopes magnify objects up to about times;

electron about 300,000 times. Scanning

tunneling microscopes can magnify images up to

1 million times.)

typing might not significantly improve conviction

rates for murders (49).

On the other hand, DNA typing has had, and will

likely continue to have, a marked impact on rape

cases (49). A woman is forcibly raped every 6

minutes in the United States. In 1988, 92,486 rapes

were reported, but because generally less than half

the victims report a rape, the actual number is

estimated to be much higher. DNA typing of semen

stains stands to significantly enhance positive association, because useful protein genetic markers in

semen are limited (6). It can have a dramatic impact

by exonerating suspects identified through eyewitness testimony who were not excluded by conventional genetic tests. DNA tests are also likely to play

an important role in serial crime investigations.

Using blood tests in paternity disputes has been an

ongoing practice for over six decades (18). Approximately 150 conventional parentage testing facilities

exist in the United States (61). Presently, a limited

number of these facilities provide DNA testing

services for parentage testing. Indications are, however, that many laboratories performing traditional

genetic typing for paternity have begun or plan to

include DNA testing, with an eye toward replacing

traditional methods.

For paternity disputes, the capability provided by

DNA typing appears to be resulting in fewer cases

being brought to trial (28), with attendant potential

savings to both the clients and the public. Since

paternity determination is often a prerequisite to

child support actions, DNA typing will have an

impact on child support enforcement efforts (61). In

the State of Virginia, for example, social service

agencies are actively pursuing DNA testing to assist

them in efforts to enforce child support laws (16).

The technological advances that allow an individual’s genetic blueprint to be examined give rise

to concerns that forensic uses of DNA testing will

extend beyond the type of tests generally employed

today to DNA tests presently confined to clinical and

medical uses. Genetic information has been used for

political purposes in the past (59). The availability of

numerous DNA tests that can reveal medical or

diagnostic details about an individual (3,7,57) raises

concerns about ensuring the privacy of a person’s

genetic history, especially when DNA or tissue

samples are stored in addition to DNA profile data

(see ch. 5).

FINDINGS AND SUMMARY

At present, forensic uses of technologies grouped

under the umbrella terms “DNA testing, DNA

typing, DNA profiling, or DNA identification”

involve two basic techniques: restriction fragment

length polymorphism analysis or polymerase chain

reaction. RFLP protocols can be subdivided further

into single-locus probe analysis and multilocus probe

analysis. RFLP analysis has been used by research

and clinical laboratories for over a decade; PCR for

a few years. In the forensic setting, both techniques

can be used to detect differences among individuals

at the DNA level.
Chapter 2—The Technologies and Their Applications . 53

The molecular tools of DNA analysis offer forensic scientists a greater degree of specificity than

traditional genetic methods. DNA technologies provide the best avenue for unequivocal exclusion of

innocent suspects. DNA tests can also yield a

statistical result that is effectively positive identification.

DNA typing technologies have a broad range of

practical applications, including criminal investigations, paternity determination, identification of unknown remains, human rights abuses, and immigration. As more information is gained through genetic

research, including efforts to map and sequence the

human genome, the range of applications, information gained, and technologies involved is likely to

expand.

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Chapter 3

Validity, Reliability, and

Quality Assurance

‘‘Science is one of the very few human activities in which errors are systematically criticized and

fairly often, in time, corrected. ”

Sir Karl R. Popper

1902-

“In most cases, reasonable prudence is in fact common prudence; but strictly it is never its

measure; a whole calling may have unduly lagged in the adoption of new and available devices. It never

may set its own tests, however persuasive be its usages. Courts must in the end say what is required;

there are precautions so imperative that even their universal disregard will not excuse their omission. ”

Justice Holmes

The T.J. Hooper, 60 F.3d 737 (2d Cir. 1932)

“The right to search for truth implies also a duty; one must not conceal any part of what one has

recognized to be true. ’

Albert Einstein

1879-1955
CONTENTS

Page

VALIDITY AND RELIABILITY OF DNA TECHNOLOGIES . . . . . . . . . . . . . . . . . . . . . .

Single-locus Probe Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Multilocus Probe Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Polymerase Chain Reaction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

QUALITY CONTROL AND QUALITY ASSURANCE . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

The Role of Professional Societies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Nonregulatory Mechanisms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

State Authority To Regulate Crime Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Federal Authority To Regulate Crime Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

SETTING STANDARDS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

STANDARDIZATION . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

FINDINGS AND SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

CHAPTER PREFERENCES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

59

60

68

69

71

72

73

75

80

82

83

83

85

Boxes

Page

3-A. Considerations for Choosing Forensic Single-locus Probes . . . . . . . . . . . . . . . . . . . . . . 62

3-B. Scientific Controls for RFLP Analysis. . . . . . . . . . . . . . . . ,......+ . . . . . . . . . . . . . . . . . 64

3-C. Statistics and RFLP Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 67

3-D. Quality Assurance and Drug Testing Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71

3-E. Quality Assurance and the FBI TechnicalWorking Group on

DNA Analysis Methods . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74

3-F. Negligence Litigation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 76

3-G. Quality Assurance and Clinical Laboratories . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 78

Figures

Page

3-1. Example of One DNA Pattern in a Rape Case . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 60

3-2. DNA Typing in Two Paternity Cases . . . . . . . . . . . . . . . . . . . . . . . . . . ................6 1

3-3. DNA Typing and Murder: A Less Than Ideal First Analysis and a Solution.. . . . . . 65
Chapter 3

Validity, Reliability, and Quality Assurance

Given the variation in DNA sequence among

individuals (see ch. 2), no scientific doubt exists that

technologies available today accurately detect genetic differences. Properly performed and interpreted, a sufficiently detailed examination of two

samples of DNA can determine if DNA patterns

match, and, if they do, the likelihood that a single

source is responsible for both samples (except in the

case of identical twins).

Nevertheless, it is generally agreed that applying

DNA tests to forensic samples, especially criminal

evidence, potentially presents more difficulties than

analyzing samples in basic research or clinical

diagnosis. Samples from crime scenes are frequently

small and might be of poor quality because of

exposure to a spectrum of environmental onslaughts.

And unlike paternity samples, where each sample is

from an identified source, the contributor to evidence taken from a crime scene is often unknown. To

date, several studies have elucidated ways to overcome some of the demands of using DNA typing on

forensic samples. Other efforts are under way to

further refine and develop strategies that adhere to

generally accepted practices in the scientific community.

What, then, constitutes a sufficient examination

of a forensic sample? When does “sufficiently

detailed” become unduly burdensome? What criteria are necessary for valid and reliable DNA typing

of forensic samples? Does consensus exist for some

scientific issues and not others? If so, what can be

resolved? Is resolution necessary for all scientific

issues? If not, what areas can and should be covered,

and what areas are best left to the discretion of the

forensic analyst? What are the best mechanisms for

settling differences of opinion? And finally, who

decides? As the U.S. criminal justice system increasingly turns to DNA tests, these questions, some of

them pressing, must be addressed.

This chapter identifies and analyzes several key

issues that bear on the validity and reliability of

DNA tests for forensic uses, including:

●

●

technical advantages and limitations of the

restriction figment length polymorphism (RFLP)

technique,

technical advantages and limitations of the

polymerase chain reaction (PCR) technology,

●

●

standards-laboratory and personnel-for ensuring accurate DNA typing in the forensic

context, and

mechanisms for quality assurance.

For some issues, agreement or near agreement has

been reached; the chapter describes these areas. It

also examines how consensus has been achieved in

other applications of DNA techniques or in new

medical technologies, and analyzes how such processes could pertain to forensic applications of DNA

technologies. Finally, the chapter discusses congressional, Federal, and State interest in quality assurance.

VALIDITY AND RELIABILITY OF

DNA TECHNOLOGIES

An important matter in the use of DNA as

evidence (see ch. 4) is whether the detection methods are scientifically valid. Validity centers on

whether a test will correctly identify true matches

and true nonmatches. For RFLP analysis, a valid test

or set of tests would not falsely classify or exclude

a subject by yielding a profile not true to type, i.e.,

a spurious pattern would not randomly arise. The

Office of Technology Assessment (OTA) finds

that molecular and genetic principles underlying

DNA techniques are solid and can be successfully

applied to forensic casework. Forensic uses of

DNA tests are valid.

Initial concerns about the validity of DNA typing

for forensic applications focused on the nature of the

samples. Casework samples are obtained from a

variety of less-than-sterile materials (e.g., glass,

wood, dirt, and fabric) that are often subjected to

sunlight, moisture, or desiccation. Samples can also

be contaminated with unknown genetic material

such as bacteria, plant, or animal secretions. Validation studies, however, have established that general

DNA techniques are applicable for the breadth of

conditions likely to be encountered in forensic

casework, and have dispelled notions that RFLP

analysis is invalid because of such conditions. For

RFLP analysis, these studies confirmed that forensic

samples in and of themselves are not barriers to

applying DNA technologies that use single-locus

and multilocus probes (2,19,32,34,35,50,52,66,67).

–59–
60 ● Genetic Witness: Forensic Uses of DNA Tests

Similar validation studies for PCR are being performed (18,25,82).

A second aspect of DNA testing of forensic

samples is reliability. Any test must be reliable

i.e., it must measure reproducibly that which it is

capable of measuring under routine conditions of

use. Reliable tests must perform reproducibly within

a laboratory, across many laboratories, and in the

hands of different practitioners. Thus, reliability

involves several factors, including the procedures

used, laboratory performance, laboratory recordkeeping, quality control, and quality assurance. OTA

finds that, properly performed, DNA technologies per se are reliable.

A reliable procedure, used carelessly, does not

render the test unreliable-the particular test result

would be in question. For forensic DNA analysis,

questions exist about the appropriateness of using

certain procedures over others, how data are

interpreted, or about the extent or type of quality

control and quality assurance necessary to minimize human factors and ensure that a particular

test result is reliable (62,70,86). As described later

in this chapter, some argue that because greater

experience exists for RFLP analysis, it is currently

more reliable than PCR.

Finally, although forensic uses of DNA tests are

valid and reliable when performed properly, many

harbor the misconception that DNA typing applied

to forensic samples always yields a ‘‘yes’ or “no”

answer. A test that does not give a ‘‘yes’ or ‘‘no’

each time is not incorrect, nor unreliable. An important and often overlooked result of an analysis could

be “inconclusive”—a result that should not be

misconstrued as either a match or exclusion.

Single-locus Probe Analysis

Several acceptable protocols exist to determine

whether two samples yield similar or different DNA

patterns at various loci. In forensic applications, the

method most commonly employed in the United

States involves using DNA probes that detect size

dissimilarities among individuals at certain loci. By

using several probes in combination or sequentially,

an exam]nier can determine whether DNA patterns

from questioned samples are consistent with a suspect’s pattern (figure 3-1) or, in paternity cases,

whether an alleged father’s pattern is consistent with

a child’s (figure 3-2).

Figure 3-l—Example of One DNA Pattern

in a Rape Case

Biological evidence from this rape case was separated by laboratory techniques into separate male and female fractions. After

single-locus RFLP analysis of these fractions and known samples

obtained from the victim and suspect, the results reveal that—for

this particular probe~the DNA pattern of the male fraction matches

the pattern of the suspect.

SOURCE: Federal Bureau of Investigation, 1989.

The basic tool used in single-locus and multilocus

probe analysis is called Southern blotting, or Southern transfer (84) (see ch. 2). One of the workhorses

of molecular biology, the process has been in daily

use in thousands of laboratories for over a decade.

Thus, extensive experience with Southern blotting

in research and clinical testing supports the consensus that the technology itself is both a valid and

reliable method to examine DNA.

The widespread use of Southern blotting has

demonstrated that accurate and reliable single-locus

analysis can be obtained across a broad spectrum of

conditions. It has also defined the range of artifacts

and errors that can occur, and led to solutions to

avoid or minimize problems. For example, although

partial digestion, differential electrophoresis, crosshybridization, background hybridization, loading

errors, probe contamination, incomplete stripping of

membrane before rehybridization, and loss of small
Chapter 3—Validity, Reliability, and Quality Assurance . 61

Figure 3-2—DNA Typing in Two Paternity Cases

Ml Cl AF1 M2 C2a C2b AF2

DNA typing in two different paternity disputes revealed that the

alleged father (AF) is the biological father in case 1, but not in case

2. Note that all bands present in the child in case 1 (Cl) can be

accounted for in either the mother (Ml) or alleged father (AF1 ), In

case 2, however, no bands from the alleged father (AF2) appear

in either child (C2a and C2b), nor do bands that the children do not

share with their mother (M2) match any present in the alleged

father (A2). This analysis involved a “cocktail” of four single-locus

probes.

SOURCE: Cellmark Diagnostics, 1989.

Photo credit: Federal Bureau of Investigation

“Southern blotting”:DNA is being transferred from gels

to nylon membranes. The gel is placed on a sponge, which

sits in a salt solution. The nylon membrane is placed on the

gel, and a stack of filter papers on top serves as a wick

that draws the salt solution up through the sponge, gel, and

membrane~a process that results in the transfer of DNA

from the gel to the membrane. (The glass plate

serves as a weight.)

fragments during electrophoresis are all problems

that have occurred atone time or another in laboratories, a variety of scientific controls make it possible

to recognize, or account for, such situations. Further,

most artifacts generally will lead to false nonmatches, or exclusions (although false inclusions

could occur, e.g., by incorrectly placing DNA samples on a gel or by loss of bands due to sample

degradation) (63).

Nevertheless, forensic applications of single10CUS analysis make somewhat different demands on

the method than research and clinical applications.

Whereas diagnostic testing usually consumes only a

fraction of a typical sample, from which a test can be

repeated, forensic case samples can be degraded,

contaminated, or in limited supply. DNA diagnostics generally involves determining which RFLP a

child has inherited from each parent. Since a total of

at most four possibilities exists for the child (two

alternatives from the mother multiplied by two

alternatives from the father), the system has built-in

consistency checks that alert scientists to errors,

such as extra or missing bands; because choices at

diagnostic loci are discrete, the results can typically

be scored by visual examination alone. In contrast,

a continuum of possible fragment sizes exists at loci

screened in forensic DNA testing; precise measurements of the fragment lengths and objective standards for deciding whether DNA patterns match are
62 ● Genetic Witness: Forensic Uses of DNA Tests

essential. Finally, detailed population genetics analyses are not required in diagnostic DNA testing

because conclusions depend only on the samples

tested. Forensic analysis, however, requires information about the frequency of DNA patterns in the

general population if conclusions are to be drawn

about the probability that matched patterns arose

from one contributor, or whether many people in a

community could have been the source.

Thus, it is important to identify potential sources

of errors that could lead to false nonmatches and

matches when DNA technologies are used on forensic samples. Most would agree that avoiding false

matches in criminal cases is paramount, because

decisions regarding liberty, and sometimes life, are

at stake. Broadly speaking, three central issues must

be considered in evaluating single-locus probe analysis:

●

●

●

the artifacts that might appear, which might

lead to a false interpretation, match or nonmatch, of the samples;

the accuracy involved in declaring that bands

are a match or nonmatch between two RFLP

patterns; and

the population characteristics of RFLP patterns. (Although the validity of forensic DNA

ics, when DNA typing results do not exclude an

individual, population genetics becomes essential to the interpretation.)

Controls to Avoid Artifacts

Forensic DNA tests generally involve limited

quantities of samples that could have been exposed

to centaminants or environmental insults. In some

instances, forensic samples might have marginally

sufficient DNA to analyze; if too little DNA is

obtained, less intense bands might not be detected,

misleading the analyst. Some forensic DNA samples

might be partially degraded, resulting in the isolation of an insufficient quantity of high molecular

weight DNA; depending on the probe used, large

fragments might not be detected. Finally, forensic

samples can contain chemicals, or DNA from additional sources (a second person or bacteria), that

interfere with complete DNA digestion by the restriction enzyme or normal gel electrophoresis.

In different ways, each of these situations could

create problems that might interfere with analysis or

interpretation of forensic DNA test results. Several

factors to minimize potential problems are important, including: quality control of reagents; choice of

enzyme and probe (box 3-A); and built-in scientific

tests per se does not involve population genet- flags, or controls. Controls are especially critical.

Box 3-A-Considerations for Choosing Forensic Single-locus Probes

Over 3,000 RFLP loci have been identified to date, including more than 100 highly polymorphic loci at which

many alleles exist in the population. With such a wide range available, DNA probes that minimize possible

ambiguities can be used. Most agree that, ideally, a DNA probe for forensic use should:

conditions;

• produce well-characterized patterns (such as defined size range, number of bands, and relative band

intensities) so that unexpected patterns can be recognized; and

● detect a single polymorphic fragment per allele so that each person’s test yields either one or two fragments,

depending on whether an individual is homozygous or heterozygous, respectively.

Avoiding probes that detect fragments of varying number or intensity minimizes the problem of identifying

the true bands that comprise the RFLP pattern. Otherwise, the potential exists for uncertainty about whether

weak-intensity bands are part of the pattern. Furthermore, using a probe that identifies patterns with bands of

variable number and intensity could make it difficult to identify bands on a dirty background.

Other considerations related to the use of a DNA probe for forensic casework include:

. using a series of probes from different chromosomes, or reasonably distant on the same chromosome, to

ensure that the regions sampled are independently segregating;

. availability of the probe for research purposes, which allows other scientists to confirm its properties; and

● having the chromosomal position of the locus detected by the probe filed with the Human Gene Mapping

Workshop.

SOURCE: Office of Technology Assessment 1990.
Chapter 3—Validity, Reliability, and Quality Assurance . 63

To prevent or minimize unexpected or uninterpretable results, often referred to as artifacts or

anomalies, scientists have developed several precautions based both on experience in basic research and

on validation studies on simulated and actual forensic samples. Controls are steps built into any scientific analysis. They tell the scientist that the assay as

a whole proceeded as expected, and that results from

unknown specimens are accurate and reliable. For

despite vigilant quality control and rigorous adherence to an acceptable protocol, analyses can and do

fail. Thus, controls tell a forensic examiner whether

the overall analysis worked—i.e., whether expected

results were obtained from standard samples (box

3-B).

At present, scientists agree on the necessity for

some controls, but not others. Different levels of

safeguards can be used in a scientific experiment in

different laboratories and yield identical, accurate

results. Determining the type of controls necessary to ensure confidence in the results of any

single DNA typing of a forensic specimen is of the

highest priority (see section on setting standards).

Match or Nonmatch?

As mentioned previously, clinical DNA analysis

generally benefits from consistency checks provided

by family relationships. Additionally, the types of

probes usually used detect only a limited number of

well-separated alleles, so that visual comparison

suffices. In contrast, forensic uses of DNA tests

involve determining whether one or more unknown

samples match samples collected from known individuals, e.g., a suspect or victim. Probes that detect

highly polymorphic loci are used in forensic testing

because they provide more information about identity. In particular, because the trend in forensic cases

has been to use probes that involve as many as 50 to

100 alleles that often involve fragments of similar

lengths, comparing samples requires both visual

comparison and precise, quantitative measurements

of fragment position. What considerations are necessary in declaring that two or more DNA patterns

match?

Controlling for Potential Problems—To demonstrate that two bands appearing to be the same length

in a gel are in fact the same length, most molecular

biologists would perform a mixing experiment. That

is, they would confirm that a 50-50 mixture of the

two samples yields precisely the same RFLP pattern

as either sample alone. Mixing tests can often reveal

even small differences between samples, since coelectrophoresis allows a perfectly controlled comparison.

Mixing assays are generally not performed by

crime laboratories in any type of comparative casework (e.g., drug analysis or protein electrophoresis)

(59). And, at present, it appears that most laboratories do not routinely perform mixing tests on nonpaternity DNA samples. One important concern is

the limited amount of DNA often obtained from

evidence. The difficulty of precisely measuring the

quantity and quality of human DNA from forensic

samples so as to achieve an uniform mixture is also

a consideration, as is the perceived difficulty in

explaining to a jury why an examiner would deliberately mix two samples. While the latter two issues

seem surmountable, most agree that the question of

requiring mixing assays as a matter of routine should

remain open on a case-by-case basis because, in

some instances, not enough DNA will be available.

These voices strongly argue that a failure to perform

them is not grounds for a priori invalidating results.

Nevertheless, many consider mixing tests as the

“gold standard” for DNA typing of forensic specimens—a test that should always be performed in

accordance with standards linked to DNA quantity,

not strictly case-by-case.

When a mixing test is not performed, identity is

inferred by comparing the positions of bands, and

hence their size, in two separate lanes. Because

lane-to-lane differences in electrophoresis can occur

within a gel, resulting in ‘‘band shifts, ” the most

accurate way to ascertain the size of a fragment is to

measure its position relative to a set of internal lane

controls, called monomorphic markers. That is, the

unknown band should ideally be measured against

one or more bands of known size in the lane itself.

Although monomorphic markers were not employed

initially, their use in forensic DNA analysis now

seems to be generally accepted.

In forensic casework, it might be necessary to

measure the sizes of bands on different gels. Forensic laboratories performing DNA analysis currently

run evidence and suspect samples on the same gel

whenever possible. But occasions can arise when,

for example, an evidence sample is exhausted on gel

A during an analysis that excludes a suspect. Following a period of time, DNA from a new suspect might

need to be tested. Again, using proper controls—

monomorphic probes and known size markers—
64 ● Genetic Witness: Forensic Uses of DNA Tests

Box 3-B—Scientific Controls for RFLP Analysis

Despite vigilant quality control and rigorous adherence to protocol, analyses can fail. Every valid and reliable

scientific test, therefore, includes an appropriate set of scientific controls designed to demonstrate that the procedure

worked correctly. When the test works properly, these controls yield certain expected results. If the observed results

for the controls deviate from what is expected, then the results for the case samples cannot be considered reliable.

A variety of simple and widely accepted scientific procedures are available to detect errors and artifacts that can

arise in forensic applications of RFLP tests. Such controls include, but are not limited to the following:

Control human DNA. Together with actual case samples on a gel, one lane should include a known human

control DNA that yields a known pattern. If the expected pattern is obtained, it verifies that the hybridization

proceeded as expected. Failure to obtain the expected pattern indicates that the hybridization went awry and should

be repeated. If a Y-chromosome specific probe is used to recognize male DNA, the blot should contain both control

male and control female DNA samples. (The former is a “positive control” to prove that the hybridization would

detect male DNA—if present—in the forensic case sample, while the latter is a “negative control” to demonstrate

that the hybridization would not yield a spurious positive even if male DNA was not present.)

Molecular size markers. To provide a “molecular ruler” against which fragments sizes can be measured,

several lanes should contain discrete DNA fragments of known size. Such ladders of standard molecular size

markers provide an initial test of whether the electrophoresis was uniform. By comparing the positions of fragments

in the forensic samples to the markers’ positions, the approximate molecular size of the unknown fragments can

be calculated.

Internal lane controls. Even if the size markers appear to be distributed evenly, the analytical lanes might not

have run uniformly; differences in DNA concentration (figure 3-3) or other conditions within a sample (e.g., salt

concentration) can contribute to electrophoretic differences between lanes. Therefore, to account for such

“band-shifting,” monomorphic DNA probe controls—i.e., probes to detect bands that are not polymorphic, but of

fixed size in the human population—should be used. If, in fact, lanes ran at different speeds, fragment sizes in each

lane can then be more accurately computed by using the internal controls as lane-specific molecular rulers. More

than one internal standard, or monomorphic probe, should be used so that there are enough reference points to allow

an accurate measurement.

Internal controls can also verify the presence of adequate quantities of high molecular weight DNA. If a DNA

sample is partially degraded, the quantity of DNA above a certain size might be insufficient for detection; an

important consideration if the probe used detects alleles that are of high molecular weight. In this case, degraded

DNA could lead to the conclusion that an individual is an apparent homozygote, rather than a heterozygote whose

upper band goes undetected due to DNA degradation. Such situations could give rise either to a false match or

nonmatch. A monomorphic probe that detects a high molecular weight band could be used as a control.

Test for incomplete stripping. If a membrane is not stripped completely between sequential applications of

probes, radioactively labelled probe can remain attached and produce a signal in a subsequent test. Performing

autoradiography on the stripped membrane can demonstrate if a signal results from residual probe. If a pattern is

seen, the membrane should be re-stipped. Even if autoradiography is not performed after stripping, extra bands can

be accounted for by superimposing consecutive x-ray films,

Control probing with plasmid DNA. Since plasmid vector DNA is a potential contaminant in samples and

probes, a band observed on an x-ray film might not be human DNA, but plasmid DNA in the sample that is being

recognized by plasmid DNA in the probe. To rule this out, some forensic labs probe the Southern blots with plasrnid

DNA to identify the location of any such bands, or use synthesized DNA probes lacking plasrnid sequences.

SOURCE: OffIce of Technology Assessment 1990.

DNA from the new suspect can be tested on gel B ing rule is thus required, reflecting empirical measand accurately compared with results from gel A. urement variation observed to occur when known

samples are repeatedly analyzed.

In any case, unless discrete allele systems are used

or mixing tests performed, determining whether two Reporting a Match—The systems currently used

samples in different lanes match (on the same or to report a match vary. While some consensus exists

different gels) can require fine discrimination. In on what broad steps constitute an appropriate method

addition to visual comparison, an objective match- for determining whether two samples match when
Chapter 3—Validity, Reliability, and Quality Assurance ● 65

Figure 3-3—DNA Typing and Murder: A Less Than Ideal First Analysis and a Solution

A. M K562 K1 Q1 M Q2 Q3 Q4 M Q5 Q6 M B. M K562 K1 K1 M Q3 M

In this murder case, six separate pieces of evidence were obtained from the crime scene and a suspect identified. RFLP analysis was

performed (M=markers; K1 =suspect; Q1 -6=evidence; K562=standard), but the results revealed that too much of the suspect sample (Kl)

had been placed on the gel, which led to distortion in the K1 lane, as well as the lanes next to it (K562 and Ql) (panel A).

Even though the suspect’s pattern for this probe is an extremely rare and unusual three-band pattern that is similar to the six questioned

samples, the forensic analyst cannot call a “match,” but must report the test “inconclusive” because the alignment is unacceptable. This,

despite knowing from experience that if less suspect sample had been used, the patterns likely would have aligned and been called a match.

Fortunately, not all of evidence sample Q3 had been used in the test in panel A (although QI ,2,4-6 had been exhausted). The case was

repeated (panel B) with diluted amounts of the suspect sample (Kl), which now clearly align with the evidence pattern (Q3). Had no

evidence sample been available for an additional try, however, DNA analysis would have reported “inconclusive,” and could not have been

used as evidence to prove guilt or innocence.

SOURCE: Federal Bureau of Investigation, 1989.

highly polymorphic loci are analyzed, scientists

disagree to a certain extent on the details. This

section describes the general sense of how a match

should be reported when radioactive DNA probes

are used, which is generally the case for criminal

casework.

The initial step in examining the results of hybridizing with a single-locus probe involves identifying the bands in each lane. In all cases, each lane

must be evaluated independently-the presence of a

band in one lane must not influence whether a

questionable signal in another lane should be identified as a band. Ideally, the x-ray film would show

only RFLP bands from the test, and would show

them distinctly. However, even if there is some

degree of background hybridization or the bands are

faint, an exami ner can often reliably identify the

pattern. For a probe that identifies a single polymorphic band per allele, the task should be relatively

easy: the lane should contain one (homozygote) or

two (heterozygote) bands that are much more intense

than anything else in the lane. On the other hand,

evidence samples might be an unequal mixture from

two or more contributors, so an additional faint band

(or bands) should not just be discounted.

After the bands have been identified, the examiner

must then determine whether they are in matching

positions. Accurate identification of a band’s position depends on a properly exposed piece of x-ray

film-one that yields thin, sharp bands. Overexpo-
66 ● Genetic Witness: Forensic Uses of DNA Tests

sure (or too much DNA on a gel) results in broad

bands that cover a significant size range-creating

the risk of spuriously suggesting matches between

distinct alleles and potentially masking other bands.

A consensus exists that visual inspection must be

performed, as well as objective measurement of

band position with an appropriate measuring device,

such as a computer digitizing pad or a computercoupled camera. Opinion varies, however, over the

extent and weight of operator involvement (see

ch. 5).

Once the size of the fragments is calculated (by

comparing the positions of the bands to the positions

of the size standards), how close must two bands be

to declare a match? Identical measurements are not

to be expected, nor are they achievable. Determining

an acceptable threshold of measurement imprecision

is the key. In fact, because gel electrophoresis

conditions vary from laboratory to laboratory, what

is acceptable for one might not be appropriate for

another. What is agreed on is that an objective

matching rule should be used and adhered to (e.g.,

fragment lengths within “x” percent based on the

variability observed empirically when known forensic samples are repeatedly tested).

Population Genetics

Finding that two samples have the same DNA

patterns does not necessarily mean they came from

the same individual, just as finding two specimens

with the same blood type does not mean they came

from the same person. RFLP patterns represent only

a snapshot of the unique DNA sequence of each

individual. Thus, in the absence of a result that

excludes an individual, population genetics is an

essential element in forensic uses of all genetic

techniques, including DNA technologies.

The validity of forensic DNA tests does not

hinge on population genetics. Interpreting test

results, however, depends on population frequencies

of the various DNA markers (1,9,10) (for RFLP

analysis, the size of the band in a particular test). In

other words, population genetics provides meaning—

numerical weight—to DNA patterns obtained by

molecular genetics techniques.

Once a set of patterns (or just two patterns) match,

population frequencies are used to report the frequency that such an event could arise randomly; they

are key to establishing confidence in associating an

unknown evidence pattern with the pattern from a

suspect or victim. For example, whether 1 in 30

billion, 1 in 2 million, 1 in 50, or 1 in 10 random

individuals could be expected to be contributors to

a specific piece of biological evidence. That basic

scientific principles of population genetics can be

applied to forensic DNA analysis is not in question, but how best to apply which principles to

single-locus RFLP analysis is under debate. Disagreement exists as to the extent such a debate

can or should be resolved.

Debate over population frequencies and RFLP

analysis takes several forms (16,17,29,57,69). General agreement exists that any potential bias that

could result from calculating population frequencies

be conservative, i.e., favor a defendant. Nevertheless, questions are raised about whether existing

population databases are properly applied, and whether

they adequately support calculations of inclusion, as

currently practiced. Some argue that the magnitude

of the number is not the issue, just that the analyst

assigns it with confidence that genetics principles

have been adhered to. Others argue that because of

the pivotal role population frequencies can play in

reporting results of forensic DNA tests, agreement is

necessary.

Calculating Population Frequencies of RFLP

Patterns—After a laboratory has determined that

DNA patterns from forensic sample A match forensic sample B, an analyst needs to estimate how

frequently such a match might arise by chance in the

relevant population. Calculating the population frequency of a DNA pattern consists of two steps. The

first step involves ascertainingg the frequency of

individual bands by examining random population

samples. The second step requires estimating the

population frequency of the overall DNA pattern

(box 3-c).

Determining population frequencies of DNA fragments in a pattern, represented by bands on the

autoradiograms, is a fundamentally empirical exercise. The size of the band in a pattern is compared to

a database containing the distribution of fragment

sizes found in a previously studied group of individuals. In contrast, calculating the population frequency of the overall pattern is a fundamentally

theoretical exercise. Starting with the frequencies of

the individual bands, an assumption must be made

that each represents statistically independent events.

Using certain basic formulas from populations genetics, the probability that each of these independent
Chapter 3-Validity, Reliability, and Quality Assurance Ž 67

Box 3-C—Statistics and RFLP Analysis

Only a small fraction of DNA sequence differs between random individuals, except identical twins. Using

DNA probes allows scientists to detect some of those differences. For forensic analysis with the single-locus RFLP

technique, using several single-locus probes in combination or serially allows a forensic examiner to conclude

whether two different DNA samples came from the same person (or in paternity analysis, whether a man could have

fathered a child) and report remarkable statistics that the event is more than a chance occurrence-sometimes more

than the number of people living on Earth.

Yet, one RFLP analysis can be thought of as only a snapshot of any given DNA sample. Thus, how many

pictures need to be taken before scientists can be sure two unknown samples come from the same individual? How

do they arrive at such a conclusion-expressed as a probability of the same event occurring in a random population?

What is important: the number of snapshots taken? what information the snapshot reveals? or how often a certain

picture can be found in a population? In other words: How many probes? How many bands? How frequently do

different bands occur in the population?

Although actual calculations to assign a numerical value to RFLP analyses are far more complicated (and

somewhat controversial), the following exercise is designed to provide a sense of statistics and RFLP analysis. The

scenario assumes ideal genetic conditions, and eliminates one step in calculating statistics for RFLP tests by

arbitrarily assigning frequencies to patterns, rather than bands.

Probe Detects

A 3 patterns; equally distributed in the population (33.3 percent each)

B 2 patterns; equally distributed in the population (50 percent each)

c 2 patterns; Cl is found in 90 percent of the population and C2 in 10 percent of the population

D 10 patterns; equally distributed in the population (10 percent each)

E 20 patterns; equally distributed in the population (5 percent each)

F 50 patterns; equally distributed in the population (2 percent each)

Suppose in case 1, probes A, B, C, and D were used, and pattern Cl was revealed in both a suspect and evidence

sample. The frequency of this event—a suspect having the same composite profile as the evidence sample-would

be 0.333x 0.50x 0.90x 0.10= 0.014985, or about 1.5 percent, or every 3 in 200 people. On the other hand, if 3

probes were used in case 2—D, E, and F—the frequency of a suspect matching this overall pattern would be 0.10

x 0.05 x 0.02 = 0.000100, or 0.01 percent, or 1 in 10,000 persons. Even though fewer probes were used in case 2,

a forensic analyst could declare a greater likelihood of inclusion. In fact, the absolute number of probes used in

single-locus RFLP analysis is less important than what information each probe reveals.

Similarly, suppose probes C and D were used in case 3, and patterns Cl and D revealed. The frequency that

the same pattern would occur in a random sample of the population would be 0.90 x 0.10= 0.09, or 9 in 100 people.

Yet, if the same two probes were used in case 4, but patterns C2 and D were revealed, the frequency of this

combination would be 0.10 x 0.10 = 0.01, or 1 in 100 people. Even though identical probes were used, a forensic

analyst can report a lower chance that a random match had occurred in case 4 because the information provided by

the C probe for case 4 was more revealing—i.e., the analyst can declare that DNA testing in case 4 narrowed the

number of individuals who could have contributed the sample more significantly than in case 3.

SOURCE: OffIce of Technology Assessment 1990.

events would be observed is then computed to yield DNA fragments are statistically independent. Otherthe frequency with which that particular pattern

(genotype) occurs at that locus in the population.

Finally, assuming that different single-locus probes

have been chosen because they are not correlated,

the frequencies of the genotypes can be multiplied to

achieve an estimate of how often that particular

composite DNA profile could be expected in the

population.

One critical factor: These basic calculations are

only valid when applied to populations in which the

wise, the value calculated might greatly underestimate the true occurrence of the pattern in the general

population—making a match seem rarer than it

actually is. Essentially, the population must be one

where individuals randomly marry and reproduce, so

that distinct subgroups are absent. In such freely

mixed populations, there will be no correlation

between the alleles on the maternal and paternal

chromosomes (Hardy-Weinberg equilibrium) and

no correlation between alleles at different loci (no

linkage disequilibrium).
68 ● Genetic Witness: Forensic Uses of DNA Tests

If the population is not freely mixed, then correlations between alleles at two loci can exist, even if

they lie on different chromosomes. In fact, alleles are

not randomly distributed among individuals. Certain

alleles clearly concentrate within specific ethnic

groups, but where do the types of genetic markers

used in forensic analysis fall? Consensus exists that

genetic departures as extreme as those for rare

disease alleles do not exist for alleles detected by

forensic DNA probes (63). The best forensic DNA

probes would detect loci where the pattern of inheritance most closely resembles that expected in a

freely mixed population.

However, no detailed population studies exist yet.

Thus, individual population databases used to calculate probabilities of inclusion for DNA forensic

analysis should be examined for departures from

genetic models. Even if significant departures are

found, some estimate of match probabilities is possible. Precisely how statistical tests should be applied

to verify that significant deviations from random

expectation do not occur is under debate, as is what

mathematical compensation can be made to account

for any deviation.

Population Substructures-Because the United

States is multiracial, with many ethnic subgroups,

special care must be taken when determining th e

likelihood of obtaining a certain pattern within

distinct population subgroups. What effect does this

population substructuring have on the ability to

calculate genotype frequencies within racial subgroups?

For example, several population genetics databases (see ch. 5) collect and classify information as

‘‘ Hispanic,’ based on self-identification or surname. Hispanic as an ethnic subgroup, however, is

extraordinarily broad in the United States. In particular, it is possible that frequencies of certain RFLP

patterns in Mexican-Americans differ from citizens

of Puerto Rican descent, which both could differ

from individuals of Cuban or El Salvadoran heritage. The Native American population in the Southwestern United States differs significantly from

Native Americans in Alaska or Hawaii. Similarly,

race distinction as a division of population genetics

could be insufficient. RFLP patterns from persons of

Japanese, Chinese, Vietnamese, and Korean ancestry all might differ, yet be classified under the

designation Asian or Oriental.

Yet how important are such subdivisions in calculating the probability that a match is real or random?

Most observers agree that, while a danger exists in

overplaying the “numbers game,” population frequencies based on existing databases can be obtained—

although any reported identification frequency represents an estimate to be used in conjunction with

other evidence linking a defendant to a crime.

Furthermore, the numerical significance of a match

that is expressed needs to take into account the

frequently unknown ethnic association of the forensic specimen and details of the ethnic variation for

the population database used. On the other hand,

many argue that while estimates can be made, a more

rigorous and formal system for determiningg association probabilities is necessary-both because many

aspects of the genetics of RFLPs have yet to be

elucidated, and because juries often place great store

on statistics (see ch. 4) (30).

Finally, what populations should be studied?

Ideally, a random sample of the U.S. population

should be tested. Since true random sampling is

impractical, as is sampling all ethnic subgroups in

the United States, human geneticists must determine

standards and criteria that will account for the

strengths and weaknesses of population genetics

databases. Although it might seem academic to some

to know whether the frequency of random match is

1 in 10 million or 1 in 10,000, others express concern

about population frequencies-especially in the context of any single individual on trial. Population

studies and analyses of statistical reporting for

single-locus RFLP tests are also relevant and critical

to the design and potential use of national databases

of DNA types (see ch. 5).

Multilocus Probe Analysis

As described in chapter 2, multilocus probes

simultaneously detect a wide range of restriction

fragment length polymorphisms, thus yielding a

pattern of 30 or more bands per individual (33,48,49).

Multilocus probes were the first probes used for

DNA identification-an immigration case in the

United Kingdom in 1985 (49). Initially, great excitement was generated about the use of multilocus

probes in forensic cases, since they could allow

unique identification from a single hybridization.

Properly performed, multilocus probe analysis is

reliable and valid, using the same basic techniques

as single-locus probe analysis. However, many be-
Chapter 3—Validity, Reliability, and Quality Assurance ● 73

ing the issue of population genetics are the Genetics

Society of America and the Society of Heredity and

Evolution.

Lastly, since the technique of electrophoresis is

the basis in RFLP analysis for discruminating band

sizes among individuals, the expertise of members

of the Electrophoresis Society also could be brought

to bear on issues surrounding forensic applications

of this technique. In particular, efforts of this professional society to evaluate state-of-the-art and quality

control considerations for electrophoretic methods

could be useful. Joint efforts involving scientists

from this society and forensic practitioners would

then be able to evaluate whether certain electrophoretic methods were better suited to forensic

work, or if new developments in electrophoresis

would be adaptable to widespread use in forensic

laboratories.

Thus, several scientific professional societies that

represent stakeholders in forensic applications of

DNA identification exist. In addition, professional

organizations devoted to interests of the legal community, including the American Bar Association,

the American Association of Trial Lawyers, the

National Association of Criminal Defense Lawyers,

the National College of District Attorneys and the

American Civil Liberties Union, have an interest in

resolving issues in DNA typing of forensic samples.

Cooperation among professional organizations could

be a powerful mechanism to ensure quality; in the

area of forensic DNA analysis, no single professional society can claim sole, or even greatest,

expertise. Although each group has specific

strengths and weaknesses, the collective wisdom

and influence of professional groups on quality

assurance should not be underestimated or discounted. Nevertheless, professional society membership or claims of adherence to different voluntary

professional guidelines can confuse the general

public, and should not be viewed as the ultimate

imprimatur of quality.

Nonregulatory Mechanisms

Short of regulating crime laboratories and other

facilities that perform DNA typing for nonmedical

uses, States and the Federal Government could

promote quality assurance through nonregulatory

means. Federal efforts, in particular, could facilitate

self-regulation. Nonregulatory action could also

take the form of authorizing additional Federal

research in forensic sciences—particularly crossdisciplinary projects that apply emerging basic research tools to real-world casework, or enhanced

population data collection for forensic DNA probes.

Additional nonregulatory Federal efforts can encourage the use of governmental, professional society, and industry resources to review forensic uses of

DNA tests,l or to hold consensus conferences that

make recommendations for quality assurance of

forensic DNA analysis.

A Federal role in a consensus conference process

is not novel. For example, concern over costly and

possibly premature applications of medical innovations led to the 1977 Consensus Development Program (71,90,97). Part of the U.S. Department of

Health and Human Services (DHHS), National Institutes of Health (NIH), its purpose is to develop

consensus on the clinical significance of new findings and the financial, ethical, and social impacts of

a procedure’s development and use. To that end, an

Office of Medical Applications of Research coordinates consensus conferences and other activities

Council, National Academy of Sciences, began a study of forensic DNA analysis.
70 ● Genetic Witness: Forensic Uses of DNA Tests

In forensic analysis, the problem of crosscontamination could be particularly serious: Should

a suspect’s sample accidentally contaminate a questioned sample containing degraded (or no) DNA,

subsequent PCR amplification of the questioned

sample would show that it perfectly matched the

suspect. Thus, whereas cross-contamination in RFLP

analysis might more likely arise from mislabeling of

tubes than physical cross-contamination of samples,

forensic uses of PCR must stringently guard against

both. Proper controls, including “no DNA controls, ’ ‘ are critical to interpretation of PCR-based

results.

Proper controls and precautions for forensic uses

of PCR have been proposed (4,61). Laboratories

must be forewarned, however, that extraordinary

care is needed in sample handling-greater than the

level required in RFLP analysis. Some even argue

that it might be desirable if evidentiary and suspect

samples were not stored or amplified in the same

room. In any case, even with carefully controlled

tests, some argue that results in forensic casework

should probably be reconfined by an independent

repetition from the original sample. (Fortunately, the

minimal sample requirements of PCR and the ease

of the procedure make it practical, for the most part,

to repeat the test multiple times.)

Misincorporation

Rarely-about once or twice every 20,000 to 1

million bases—in the molecular copying process of

PCR is a nucleotide misincorporated (28,78). Can

this amount of misincorporation affect the validity

of PCR for forensic uses? Theoretical modeling

indicates that although a proportion of PCR products

can contain some misincorporation, such events

occur at random. Within an amplified sample, the

chances of having a group of DNA molecules with

the exact same single base substitution would then

be minuscule (80), unless the substitution occurs

early in the reaction, when the effect could be

significant (63).

In fact, misincorporation does not create problems

in DNA sequencing analysis or probe typing of

PCR-amplified DNA (28), because the entire population of molecules is being ex amined, not a single

molecule. Thus, misincorporation of nucleotides

might not affect the ability of PCR to distinguish

among different DNA profiles in forensic samples.

On the other hand, misincorporation of nucleotides

could be an issue if the initial amount of DNA is

minute, which is often the situation in a forensic

case. One component of standards for forensic use of

PCR might include the threshold quantity of DNA

that would be acceptable for valid and reliable

examination (25).

Differential Amplification

Differential amplification, i.e., preferential copying of one allele over the other, is a concern in PCR

testing. During the course of an amplification, differential amplification of one or the other of the two

alleles can occur due to variation in length (47),

sequence difference, or contamination with nonDNA material in an evidence sample (63). As

mentioned previously, individuals are often heterozygous—i.e., have one band larger than the second

band in an RFLP pattern. Thus, if one allele is

preferentially amplified, one of the bands might not

be detected and the person mistakenly typed as a

homozygote.

Differential amplification can be addressed, in

part, by carefully characterizing the regions to be

examined and establishing standards of practice to

avoid contamination. Thus, despite concerns about

this matter and the previously mentioned issues, few

doubt that ongoing research will overcome questions raised about PCR, with full technology transfer

of PCR in criminal investigations occurring in the

next few years.

Population Genetics

Population genetics considerations for PCR depend on the genetic locus amplified. At present, the

only genetic system generally employed in forensic

casework using PCR is the HLA DQx- 1 system—a

human white blood cell antigen system. Results in

this system are scored through the “yes’ ’/’’no”

assay described in chapter 2. HLA DQx-1 is a valid

and well-defined system (78), but it is not as

discriminating as RFLP analysis. It can distinguish

between two random individuals 93 percent of the

time (98). Such discriminating power has proved

useful in excluding or including suspects in criminal

cases where conventional serological genetic analysis has failed, or where insufficient DNA was

available for single-locus analysis. And, although

few population studies involving PCR-based detection systems have been defined to date, such information can be expected to accumulate rapidly as

experience in research laboratories increases. One

population genetics issue that might need address-
Chapter 3—Validity, Reliability, and Quality Assurance ● 71

ing: accounting for differential amplification of

alleles in a PCR-based analysis that reveals an

apparent homozygote (63).

QUALITY CONTROL AND

QUALITY ASSURANCE

Laboratories use quality control to ensure that an

assay’s quality achieves specified criteria. Quality

control includes the steps taken by a laboratory to

produce consistent, interpretable results each time

the test is performed. A quality assurance program

provides evidence that quality control is being

satisfactorily performed. Such documentation can

include proficiency testing and external inspections

(5,54-56,85). Quality control and quality assurance

are essential components of good laboratory practice.

Congress has long had an interest in quality

assurance issues. Through its charge to protect the

public welfare, Congress and the Federal Government have implemented an array of quality assurance programs-ranging from specific legislative

action to encouraging voluntary mechanisms—in a

variety of fields. In particular, quality assurance for

both drug testing (box 3-D) and clinical diagnostic

laboratories has been the focus of recent congressional and executive attention (53 FR 11970; Public

Law 100-71; Public Law 100-578; 88,89,96).

The issue of quality assurance for the Nation’s

crime laboratories is not novel. Scrutiny of crime

laboratories has been an issue since their proliferation in the 1970s (68,73). Publicity surrounding

DNA typing in criminal casework, coupled with

the fact that DNA technologies often capture

government and public interest (91,93-95), has

simply renewed interest in the performance of

forensic facilities. Thus, while DNA testing served

as the catalyst for today’s debate about quality

assurance for crime laboratories, other tests previously sparked attention about this subject (38,39,68).

In one respect, however, concern about forensic

DNA analysis differs from previous attention to

quality assurance of forensic services: Both public

and commercial private providers are involved.

While some mechanisms to attain uniform, highquality service can be the same for both sectors,

other approaches might apply to only one.

This section concentrates on the role that can be

played by professional societies, State and local

Box 3-D-Quality Assurance and

Drug Testing Laboratories

Drug testing of employees and job applicants has

become increasingly commonplace. The dramatic

increase in testing facilities to handle samples has

spawned concern about ensuring that sufficient care

is taken so that those tested are not harmed by

poor-quality tests or inadequate quality assurance

policies or quality control procedures. In 1988, the

General Accounting Office surveyed all 50 States

on the nature of laws, regulations, and other legally

enforceable provisions in effect that would govern

quality assurance of drug testing laboratories. The

survey revealed that no uniform system exists to

regulate laboratories doing employee drug testing.

Some States do have formal mechanisms specific

for quality assurance oversight of drug testing

facilities. Others regulate laboratories that perform

employee drug analysis through general medical or

clinical laboratory statutes. Still others voluntarily

adhere to standards prescribed by various professional associations. Some do not control such

services at all.

The Federal Government has moved to improve

results from laboratories providing employee drug

testing services (53 FR 11970; Public Law 100-71).

Congress also is interested in ensuring quality in

laboratories that do employee drug testing. Legislation considered during the 100th Congress would

have required proficiency testing and certification

by the U.S. Department of Health and Human

Services for all facilities engaged in urinalysis and

blood analysis for employee drug testing. Similar

legislation is pending in the 101st Congress.

SOURCE: Office of Technology Assessment 1990.

governments, and the Federal Government to ensure

that both private and public laboratories provide

high-quality forensic DNA typing. It discusses the

structure of professional societies and their potential

for providing practitioner education, setting standards, assuring adequate staffing and laboratory

facilities, and developing a consensus among all

parties who have an interest in high-quality forensic

DNA analysis.

Further, Congress has declared that crime is

essentially a local problem that must be dealt with by

State and local governments (with Federal financial

and technical support) if it is to be effectively

controlled (42 U.S.C. 3701). Crime laboratories are,

in fact, public agencies, and State and local governments play a key role in determining quality of
72 ● Genetic Witness: Forensic Uses of DNA Tests

forensic services. Thus, this section examines the

role of State and local governments in quality

assurance of DNA profiling.

In addition, the Federal role in quality assurance

can operate at both nonregulatory and regulatory

levels. The Federal Government can facilitate nonregulatory efforts to guarantee high quality. It can

also actively regulate standards of practice, protocols, and commerce in forensic services (especially

those paid for by government programs). In particular, this section describes quality assurance protocols implemented by the Federal Government in

other laboratory testing areas, such as clinical diagnostics laboratories and drug testing facilities. Finally, the Federal Government has, over the last 15

years, formed commissions that have recommended

action on topics related to applications of the new

DNA technologies. Federal powers to implement the

suggestions of these advisory groups also are explored.

The Role of Professional Societies

Membership in professional societies is purely

voluntary, as is members’ adherence to an organization’s code of conduct and standards. Professional

organizations can set informal standards, make members undergo continuing professional education to

maintain active membership status, and require

periodic examination. A professional organization

can also survey its members and gather data on new

techniques. Again, taking part in such studies is

voluntary on the part of the membership.

In the forensic sciences, one of the many influential societies is the American Academy of Forensic

Sciences (AAFS). A nonprofit professional society

organized in 1948, AAFS is devoted to the improvement, administration, and achievement of justice

through the application of science to the processes of

law. The organization draws members from the 50

States, all U.S. territories, and over 30 countries, and

is the largest professional society devoted to forensic

practices. An ad hoc committee has been established

to examine forensic applications of DNA tests and,

as quality assurance mechanisms develop, AAFS

members will play a key role in developing standards and disseminating information.

Another group of forensic professionals is the

American Society of Crime Laboratory Directors

(ASCLD). ASCLD guidelines do not bind a society’s members to a particular practice, but do serve

to develop some consensus among practitioners. For

example, a DNA implementation committee has

been established (see ch. 6). ASCLD also encourages proficiency testing before an analyst is assigned

casework (6). In particular, ASCLD provides professional advice to a proficiency testing program, and

offers a voluntary accreditation program (described

in following sections).

In addition to national organizations, forensic

practitioners in regional jurisdictions have pioneered

efforts to establish guidelines for quality assurance.

For example, in 1987, the California Association of

Criminalists (CAC) and the California Department

of Justice held a statewide symposium of serologists

to examine standards in quality assurance, training,

record collection and evidence preservation, method

validation, and data interpretation. As a result of the

symposium, a document articulating the professional consensus of serology practices within California was published (22). In addition, the California

Association of Crime Laboratory Directors (CACLD)

endorsed a series of guidelines to evaluate DNA

testing by commercial services (21), which could

provide criteria for measuring performance of public

crime laboratories.

Other professional organizations, such as the

Council on Forensic Science Education, the American Association of Blood Banks (AABB), the American Society for Histocompatibility and Immunogenetics

(ASHI), and the International Society for Forensic

Haemogenetics (ISFH), are likely to play an important role in debates surrounding quality assurance

for DNA analysis by crime laboratories. For example, AABB and ASHI have standards for using DNA

polymorphisms in parentage testing (3,4). ASHI

standards address both RFLP analysis and PCR/

HLA typing (4). ISFH recommendations encompass

RFLP analysis for parentage and criminal samples

(45).

Another important professional society, although

not directly involved in forensic sciences per se, is

the American Society of Human Genetics (ASHG).

A society principally composed of scientific experts

in human genetics, ASHG could be useful in evaluating the utility, validity, and reliability of newly

emerging DNA technologies, as well as analyzing

population genetics data. A recent statement raises

several points that ASHG believes should be considered in forensic DNA testing (7). Other professional

societies that could contribute to debates surround-
Chapter 3—Validity, Reliability, and Quality Assurance ● 73

ing the issue of population genetics are the Genetics

Society of America and the Society of Heredity and

Evolution.

Lastly, since the technique of electrophoresis is

the basis in RFLP analysis for discruminating band

sizes among individuals, the expertise of members

of the Electrophoresis Society also could be brought

to bear on issues surrounding forensic applications

of this technique. In particular, efforts of this professional society to evaluate state-of-the-art and quality

control considerations for electrophoretic methods

could be useful. Joint efforts involving scientists

from this society and forensic practitioners would

then be able to evaluate whether certain electrophoretic methods were better suited to forensic

work, or if new developments in electrophoresis

would be adaptable to widespread use in forensic

laboratories.

Thus, several scientific professional societies that

represent stakeholders in forensic applications of

DNA identification exist. In addition, professional

organizations devoted to interests of the legal community, including the American Bar Association,

the American Association of Trial Lawyers, the

National Association of Criminal Defense Lawyers,

the National College of District Attorneys and the

American Civil Liberties Union, have an interest in

resolving issues in DNA typing of forensic samples.

Cooperation among professional organizations could

be a powerful mechanism to ensure quality; in the

area of forensic DNA analysis, no single professional society can claim sole, or even greatest,

expertise. Although each group has specific

strengths and weaknesses, the collective wisdom

and influence of professional groups on quality

assurance should not be underestimated or discounted. Nevertheless, professional society membership or claims of adherence to different voluntary

professional guidelines can confuse the general

public, and should not be viewed as the ultimate

imprimatur of quality.

Nonregulatory Mechanisms

Short of regulating crime laboratories and other

facilities that perform DNA typing for nonmedical

uses, States and the Federal Government could

promote quality assurance through nonregulatory

means. Federal efforts, in particular, could facilitate

self-regulation. Nonregulatory action could also

take the form of authorizing additional Federal

research in forensic sciences—particularly crossdisciplinary projects that apply emerging basic research tools to real-world casework, or enhanced

population data collection for forensic DNA probes.

Additional nonregulatory Federal efforts can encourage the use of governmental, professional society, and industry resources to review forensic uses of

DNA tests,l or to hold consensus conferences that

make recommendations for quality assurance of

forensic DNA analysis.

A Federal role in a consensus conference process

is not novel. For example, concern over costly and

possibly premature applications of medical innovations led to the 1977 Consensus Development Program (71,90,97). Part of the U.S. Department of

Health and Human Services (DHHS), National Institutes of Health (NIH), its purpose is to develop

consensus on the clinical significance of new findings and the financial, ethical, and social impacts of

a procedure’s development and use. To that end, an

Office of Medical Applications of Research coordinates consensus conferences and other activities

Council, National Academy of Sciences, began a study of forensic DNA analysis.
74 ● Genetic Witness: Forensic Uses of DNA Tests

with the NIH Bureaus, Institutes, and Divisions, and

guides the appointment of expert advisory panels to

review and make recommendations on medical innovations and their applications.

NIH consensus conferences are open to the public

and generally involve interdisciplinary panels drawn

from a range of interests. Over 60 consensus conferences have been convened in the last decade, with

noticeable effects on the practice of medicine in

some areas (44,71). The NIH process has served as

a general model for consensus development and

group judgment programs in the United States and

abroad (8,44).

Consensus conferences on forensic DNA analysis, for example, could evaluate data on DNA

probes, including studies of the population genetics

of probes, and recommend protocols that list the best

methods. Conferences and reports could also help

define a “successful” program, or distinguish experimental from standard investigative techniques.

One important consideration in whether an NIHlike consensus process would be appropriate to

forensic DNA testing is whether the questions are

primarily scientific, or primarily ethical or economic. The conferences are more effective when

they are the former (58,92), although a recent external review of the program made recommendations

that could strengthen its economic, social, and

ethical evaluations (44). Thus, the consensus conference process might be most amenable to resolving

debates about appropriate probes, electrophoresis

conditions, criteria for declaring a match, or calculating population frequencies, but be less successful

in addressing a topic such as privacy of DNA

databases. Nevertheless, an NIH-like consensus conference process could be effective and lead to greater

quality assurance in forensic practices using DNA

tests.

One nonregulatory Federal initiative to examine

quality control and quality assurance issues is being

spearheaded by the Federal Bureau of Investigation’s (FBI) Technical Working Group on DNA

Analysis Methods (TWGDAM) (see ch. 6). Consisting of individuals representing forensic facilities at

or near implementation of DNA profiling techniques, one TWGDAM document outlines a multifaceted program to ensure quality RFLP analysis

(box 3-E) (85).

Although some predict the TWGDAM guidelines

are likely to be the nucleus around which national

consensus on standards for quality assurance will

evolve, others are less sanguine. Some critics object

to the closed nature of the initial decisionmaking or

lack of representation in the group of certain interested parties. A few argue that the FBI-largely an

investigative and enforcement body—is an inappropriate lead player, and thus they oppose any role for

the FBI in quality assurance mechanisms and standards. On the other hand, the TWGDAM guidelines

Box 3-E--Quality Assurance and the FBI Technical Working Group on DNA Analysis Methods

From the outset, one goal of the FBI’s TWGDAM (see ch. 6) was to suggest guidelines that would assist a crime

laboratory in developing a quality assurance program for forensic RFLP analysis. Following review and revision

of proposed guidelines, the policies were published in 1989.

The TWGDAM guidelines are designed to encompass ‘all significant aspects of the laboratory process.” The

program includes considerations for personnel education and training, proper documentation of pertinent records,

evidence handling, validation of analytical procedures, technical controls and standards, data analysis and reporting,

proficiency testing, and independent auditing.

For proficiency testing, the TWGDAM guidelines state that open and blind proficiency tests must be

performed, and recommend that an analyst be subject to both types of proficiency testing annually. Yearly

independent audits should also be conducted, and it is “highly desirable” that the inspection include at least one

person from outside the agency.

Policies detailed in the TWGDAM program “represent the minimum quality assurance requirements for DNA

RFLP analysis. ” Although the guidelines are strictly voluntary, they could become the de facto standard for quality

assurance. For example, the Minnesota Supreme Court cited the TWGDAM guidelines in ruling on the admissibility

of DNA tests (see ch. 4).

SOURCE: Office of Techmology Assessment 1990, based on Technical Working Group on DNA Analysis Methods (TWGDAM), “Guidelines

for a Quality Assurance Program for DNA Restriction Fragment Length Polymorphism Analysis,” Crime Laboratory Digest

16(2):40-59, 1989.
Chapter 3—Validity, Reliability, and Quality Assurance ● 75

Photo credit: National Institute of Stanckrds and Technology

U.S. Department of Commerce, National Institute of Standards and Technology, Gaithersburg, MD.

represent a first-step in a probable multistage process to achieve consensus on quality assurance programs. In particular, because its members are forensic practitioners, TWGDAM proposals are likely to

address the concerns and solutions of this stakeholder.

Finally, a significant part of quality assurance

involves confidence in measurement standards. The

U.S. Department of Commerce, National Institute of

Standards and Technology (NIST) (formerly known

as the National Bureau of Standards), established in

1901 (15 U.S.C. 271), is a neutral, nonregulatory

agency that conducts research providing groundwork for the Nation’s measurement systems. At

present, NIST activities include evaluating size

markers, reagent quality, and electrophoresis conditions, so that DNA fragment sizes can be more

accurately determined (76). Additionally, NIJ,

through its Law Enforcement Standards Laboratory

at NIST, has initiated a program to examine standards for DNA processing (75). As the only Federal

laboratory with the explicit goal of researching and

providing reference standards, NIST proposals, as

they become available, will likely play an important

role in quality assurance of forensic uses of DNA

identification.

State Authority To Regulate Crime

Laboratories

States individually make and enforce most criminal laws. Inherent in this authority is the ability to

marshal the evidence required for conviction. Thus,

each State controls how DNA evidence is analyzed—

including setting standards for performance-and

presented in court (see ch. 4). Accordingly, States

have the authority to regulate forensic DNA

typing by both private laboratories and public

crime laboratories. All State jurisdiction is limited

by the provisions of the U.S. Constitution regarding

the rights of individual citizens, but a State’s inherent powers to protect victims and suspects are broad

and provide many potential avenues for regulation,

even if parallel areas of Federal authority have

developed.

Regulation of medical facilities might provide

guidance to the States. All licensing of medical

personnel and facilities is based on State law, and

almost all tort law is State-based, despite Federal

activity in all these areas (92). State authorities

most relevant to forensic uses of DNA tests are

licensing of laboratory personnel and monitoring

facilities. At least one State, Maryland, maintains

regulatory authority over one private forensic labo-
76 ● Genetic Witness: Forensic Uses of DNA Tests

ratory through the issuance of a clinical laboratory

license in the area of molecular biology (31).

To date, no State has enacted general licensing

requirements for crime laboratories. Several have

requirements in restricted areas such as forensic

alcohol analysis, but no State has licensing requirements for DNA typing in forensic casework. Nor

does any State have forensic licensing requirements

regulating DNA typing by private companies. One

nonregulatory means to regulate forensic uses of

DNA tests could be negligence litigation (box 3-F).

Crime Laboratory Personnel

Two general mechanisms to assure quality of

laboratory personnel exist: certification and licensure. Certification is a voluntary process, while

licensing is government mandated. Licensing of

personnel is generally the domain of State governments. It is a formal mechanism intended to protect

both the public and the profession, as well as provide

guidance to the judicial system. For forensic DNA

testing, a State could specify particular qualifications necessary for either public or private facilities.

States could require their licensees to follow certain

nationally recognized standards.

As well as requiring minimum standards, licensing provides States with the right to review an

with sanctions ranging from simple censure to license revocation for failure to follow proper standards in delivering services. On the other hand,

without licensing, enforcement of honest practice

might be stronger, not weaker, because general

antifraud provisions might apply (36). In some

instances, possession of a license can provide a

practitioner with a misleading imprimatur of expertise (36).

At present, no State requires licensing of crime

laboratory personnel or private practitioners performing DNA analysis on forensic samples. In

contrast, a majority of States regulate the qualifications of clinical laboratory personnel (79). Although

no State licenses criminalists or serologists, voluntary certification programs are in place for some

forensic fields, but not in criminalistics. As early as

1979, proposals surfaced for certifying criminalists

(26). At the time, a majority of professionals in

criminalistics withheld support, and no national

certification program yet exists. In 1988, certification efforts for criminalistics were revived, and an

American Board of Criminalistics was incorporated

in August 1989 (27). At the State level, CAC began

a certification test in May 1989 (11).

To set and implement licensing or certification

guidelines, however, the forensic science profesindividual’s practice, and to discipline the person sional community must define the body of specialBox 3-F—Negligence Litigation

Tort law is a nonregulatory means for social control of risks to health and safety. Permitting individuals to sue

those who have wronged them through negligence serves as a mechanism for financial and emotional compensation,

and for quality control. Theoretically, by making people responsible for their actions, individuals have an incentive

to act responsibly. In practice, negligence litigation involving DNA typing would probably suffer from the same

shortcoming found in medical malpractice litigation-a focus on past errors rather than future improvements.

Nevertheless, as with medical malpractice, negligence litigation could have an effect on private entities that provide

DNA typing for forensic purposes, particularly parentage testing.

To prove negligence, an individual would need to prove the commercial forensic practitioner breached a duty

through neglect or lack of due care. Most likely, the plaintiff would have to show that the defendant did not adhere

to “good accepted practice,” or that the industry-wide definition of such practice is so flawed that failure to go

beyond it constitutes negligence.

In the absence of a good-practice standard for forensic DNA testing, each party in a suit must look to other

fields to judge the defendant’s conduct. This problem complicates the presentation and evaluation of evidence. If

one judge tries more than one case involving DNA testing, a de facto standard could develop for that courtroom,

but would have little value as precedent outside that jurisdiction. Most courts also are not in a position to promulgate

such standards outside the confines of a trial. Thus, while tort suits may remedy individual grievances, they do little

to force development of a nationwide, good-practice standard. Tort suits do a better job of enforcing standards after

they have been developed. Without standards, the importance of negligence litigation on quality assurance for

forensic DNA typing would appear to be minimal at present, and its future impact uncertain.

SOURCE: Office of Technology Assessment 1990,
Chapter 3—Validity, Reliabiliity, and Quality Assurance ● 77

ized knowledge required, establish a system to

identify qualified persons who meet minimum standards of practice, and agree to guidelines against

which courts can measure scientific evidence and

performance (12). In particular, minimum curricular

requirements, training, and continuing education

need delineation. At present, professional training is

largely through on-the-job apprenticeships, seminars, and workshops, including training by the FBI’s

Forensic Science Research and Trainin g Center

(FSRTC) in an array of forensic specialties for about

300 State and local crime laboratory personnel

annually (51). Formal academic coursework in forensic science at the undergraduate and graduate

levels is available in only a few institutions, with

internships not widely available.

Recently, however, progress in defining training

and educational requirements has been made. For

example, the TWGDAM quality assurance guidelines address education and training of forensic

personnel (85). The Council of Forensic Science

Educators has been formed with the goal of developing standards for forensic science education (12)0 In

the field of serology, that area where DNA typing

expertise is likely to fall, the Southern Association

of Forensic Scientists has drawn up a training outline

(83). Serologists in California have proposed basic

educational requirements and trainin g needs for

professionals in their State (22).

While some predict national consensus for training and education requirements will be achieved,

implementation of such a program does not seem

imminent. Clearly, one of the best mechanisms to

guarantee quality is providing adequate resources

for educating and training forensic laboratory personnel. At present, such resources are woefully

inadequate, and most agree that increased State and

Federal attention in this area is necessary.

In addition to adequate education and training of

forensic laboratory personnel, quality control and

quality assurance before evidence samples reach the

laboratory door has been underemphasized to date.

Providing education for field personnel on how best

to gather and preserve evidence so that DNA identification can be performed will aid and enhance the

efforts of the forensic examiner.

Photo credit: Robyn Nishimi

Certificate of accreditation for voluntary program offered to

forensic laboratories by the American Society of Crime

Laboratory Directors.

Crime Laboratory Facilities

As well as requiring licensing of personnel, States

can mandate licensing of facilities or specific services within facilities. States could, for example,

adopt laboratory licensing regulations aimed specifically at DNA typing programs, and not other

forensic technologies, in private and public laboratories. Supplemental to or in place of licensing can be

an accreditation process offered by a neutral, external body, such as the College of American Pathologists for medical genetics or the Joint Commission

on Accreditation of Healthcare Organizations for

various medical facilities. Accreditation can be strictly

voluntary, and traditionally has been. But increasingly, as a condition of receipt of certain privileges

or in exchange for funding, State or Federal officials

require accreditation by a specific group or groups.

Licensing—As mentioned, no State currently

regulates forensic service facilities in general, although States do have clear authority to oversee such

services. In contrast, all 50 States and the District of

Columbia require that public and private hospitals

be licensed, although the scope of the laws varies

considerably (101). In 1988, in an effort to ensure

quality services, Congress passed sweeping legislation that subjects all clinical testing laboratories to

a uniform standard of regulations (Public Law 100-

578) (box 3-G).

Accreditation-Although not subject to mandatory oversight, one voluntary accreditation program
78 ● Genetic Witness: Forensic Uses of DNA Tests

Box 3-G-Quality Assurance and Clinical Laboratories

In October 1988, Congress passed sweeping legislation that subjects clinical laboratories to a number of

requirements, including qualifications for the laboratory director, standards for the supervision of lab testing,

qualifications for technical personnel, management requirements, and an acceptable quality control program. Prior

to enacting the Clinical Laboratory Improvement Amendments of 1988 (CLIA) (Public Law 100-578), Federal

regulations covered the approximately 13,000 labs that either transported samples between States or performed tests

billed to Medicaid and Medicare. Beginning in 1990, however, the Health Care Financing Administration (HCFA)

of the U.S. Department of Health and Human Services (DHHS) will exercise sweeping regulatory authority over

clinical laboratories. HCFA will set standards for staffing and maintaining all medical laboratories, including

physician office testing. HCFA will also manage a comprehensive program to police the facilities and can impose

sanctions.

CLIA is at once broad, encompassing the estimated 98,000 physician labs, and specific. For example, the

Secretary of DHHS is to establish national standards for quality assurance in cytology services, including the

maximum number of cytology slides that any individual may screen in a 24-hour period. The Secretary is also

required to determine and implement recordkeeping, inspection, and proficiency testing programs, and to study and

report to Congress on a range of issues gauging the impact of various quality assurance mechanisms.

CLIA expands DHKS’s regulatory authority over clinical laboratories, and grants HCFA the power to suspend

or revoke a lab’s certificate for violation of the rules. Further, fines up to $10,000 for each violation or each day

of noncompliance can be levied, and jail sentences of 3 years can be imposed. The law continues to permit, subject

to approval by the Secretary, the involvement of State or private nonprofit associations (which at present include

the College of American Pathologists, the American Association of Bioanalysts, agencies in 3 States, the Joint

Committee on Accreditation of Healthcare Organizations, and the American Osteopathic Association) to substitute

for the Federal regulatory process.

Prior to CLIA’s enactment, one issue of critical concern to Congress was proficiency testing programs. Until

CLIA, such programs varied broadly in testing criteria and in grading of test results. Moreover, uniform or

minimally acceptable Federal standards did not exist. Now, except under certain circumstances, proficiency testing

shall be conducted on a quarterly basis, with uniform criteria for all examinations and procedures. The Secretary

shall also establish a system for grading proficiency testing performance.

SOURCE: Office of Technology Assessment 1990.

for crime laboratories does exist. Established in Others strongly argue that current voluntary pro1981 by ASCLD, the program includes a selfevaluation, an inspection process, and required

proficiency testing. As of December 1988, 58

laboratories representing 15 Federal, State, and local

agencies—about 20 percent of the Nation’s crime

laboratories-have been accredited during the program’s 7 years of operation. (An additional seven

laboratories were accredited as of May 1989.) In

comparison, a 5-year-old AABB program to evaluate parentage testing laboratories had accredited 48

labs representing about 39 percent of potential

facilities as of December 1988 (1 1,12).

Many criticize current optional accreditation efforts as inadequate, and assert that mandatory accreditation by an external, neutral body is essential.2

grams improve- quality and are sufficient. Many feel

that action should focus on increasing participation

in voluntary programs, rather than mandating accreditation.

Nevertheless, while simultaneously contributing

to quality assurance, mandatory accreditation of

laboratories by independent, impartial organizations

—in consultation with forensic practitioners and

academic forensic scientists-could be effective in

dispelling the notion of some that crime laboratories

are not neutral bodies. Such programs could remove

the perception of many defense attorneys and their

clients that crime laboratories are biased-working

principally toward conviction for prosecutors and

police departments, and secondarily in defendants’

(36,37). It is unlikely, however, that the Antitrust Division of the U.S. Department of Justice (orpnvate individuals or corporations) will find any occasion

to attack concerted action in forensic services per se, since these are largely public facilities, or generally run as small business. Additionally, it is difficult

to imagine Federal Trade Commission scrutiny for potential ‘‘unfair practices” related to information disclosure: Individuals involved in commercial

services have routinely communicated their findings and procedures, in part to satisfy legal requirements of introducing DNA tests in court.
Chapter 3—Validity, Reliability, and Quality Assurance . 79

interest. On the other hand, accredi.

and certification are costly and

tation, licensing,

time-cons uming

endeavors that would likely place an additional

personnel and financial burden on public facilities

already overwhelmed with criminal casework and

generally underfunded (74).

Proficiency Testing-Proficiency testing in crime

laboratories is currently offered through a program

administered by Collaborative Testing Services (CTS)

in association with the Forensic Science Foundation

(FSF) (the research arm of the AAFS). Participation

is voluntary and anonymous, and more than half the

crime laboratories subscribed to the physiological

fluids program in 1985 (65), which now includes

samples for DNA testing. In place since the mid1970s, the CTS-FSF program has supporters and

critics. Proponents point out that although not compulsory, the program provides a crime laboratory an

opportunity to monitor the technical performance of

its employees and compare results with other laboratories. Critics argue that results from the program

merely underscore the need for tighter control, even

mandatory regulation through legislation.

A 1978 study (73) found that an ‘appalling’ (68)

number of participating laboratories reported erroneous results in testing blind samples, with as many

as 94 out of 132 laboratories participating obtained

‘‘unacceptable’ blood typing results. Another critic

reports that from 1978 through June 1988, the

number of errors for bloodstain or physiological

stain proficiency tests varied from 7 percent for one

test to 77.7 percent for another, and that overall, an

average of 25 percent of crime laboratories returning

results made errors (38). In one human blood test to

evaluate genetic markers, 15 of 69 participating

laboratories (21.7 percent) made at least 1 error (38).

None of these tests involved DNA typing.

In contrast, another review of the CTS-FSF serology testing program reported strikingly different

findings for 7,827 tests performed during 1978 to

mid-1986 (81): an error rate of 2.4 percent (189

errors). Further analysis revealed that 88 of these

errors arose in laboratories that made three or more

errors in the particular trial; which was acknowledged as an amount signifying serious problems.

Subtracting the errors made by these laboratories

reduced the rate to 1.3 percent. The study, which

included all but one proficiency trial during that

period, concluded that, on average, 79.1 percent of

reporting laboratories were error-free; 4.2 percent of

Photo credit: Federal Bureau of Investigation

DNA samples for RFLP analysis.

laboratories reported three or more errors (81). The

author of this report, as well as many others, attribute

the different findings to how ‘‘error’ was defined in

each study. The analysis reporting the greater error

rate counted ‘‘inconclusive’ results as errors, a

practice with which the vast majority of scientists

disagree. Similarly, “unacceptable” in the 1978

study is attributed to laboratories lagging behind in

employing certain state-of-the-art tests, not to actual

performance (82).

In addition to the CTS-FSF program, some crime

laboratories subscribe to the voluntary proficiency

program sponsored by the AABB parentage testing

committee, which also includes DNA typing. Both

the CTS-FSF and AABB voluntary programs, however, are less rigorous than the comparable program

in the United Kingdom. Not only is DNA proficiency testing already in place in the United Kingdom, but the program includes blind tests slipped

into the flow of actual casework (100). Interspersing

blind tests with case samples clearly yields the most

accurate measure of a laboratory’s performance on

a test.

With respect to blind trials of forensic DNA

testing in the United States, CACLD organized trials

using case-simulated samples in 1987 and 1988. The

three major commercial facilities then performing

forensic DNA analysis participated in each trial. In
80 ● Genetic Witness: Forensic Uses of DNA Tests

the first trial, out of 50 samples, 2 firms each

declared 1 false match (60) that could have resulted

in the conviction of an innocent person. The errors

apparently arose from sample handling problems

(11). The third company declared no false matches

(60). In the second trial, one company again reported

an incorrect match (13).

To date, the FBI has not provided blind trials to

commercial laboratories, nor does it have plans to do

so in the future. However, the FBI’s FSRTC will

provide initial open proficiency tests to those State

and local laboratories that participate in the FBI’s

training program. FSRTC also prepares proficiency

samples to monitor the performance of the FBI DNA

Analysis Unit. In addition, the FBI plans to administer a program that offers seed money to encourage

commercial ventures to develop proficiency samples

and testing (14,41). The FBI will not analyze DNA

work performed by State and local laboratories,

however, having a longstanding policy not to reexamine evidentiary materials previously examined by

another crime laboratory.

Some observers, generally not forensic analysts,

suggest that a mandatory, independent process of

proficiency testing for public and private forensic

laboratories engaged in DNA testing should be

established. Others, usually from crime laboratories,

support open and blind proficiency tests per se, but

categorically oppose an independent, mandated program. What is clear is that proficiency testing has

long been recognized to be a key component of

quality assurance. Clinical laboratories, for example, are required by Federal law to meet acceptable

performance criteria under a proficiency testing

program on a quarterly basis (Public Law 100-578).

One administrator of a clinical laboratory proficiency testing program argues that such a program is

the best, economically feasible, external source for

determining lab quality (53). In fact, the TWGDAM

quality assurance guidelines-whose authors include crime laboratory personnel-include requirements for proficiency testing (85).

Although consensus exists that some sort of DNA

proficiency testing program is desirable, disagreement arises over who shall administer it, who shall

judge what constitutes acceptable performance, and

the role of proficiency test results in court proceedings. Some argue that forensic practitioners alone

are best able to make such decisions, while others

maintain that involvement of molecular biologists

and human geneticists is necessary. And, while

many feel the present CTS-FSF program is wellplaced to administer DNA proficiency testing, others believe a new system is necessary.

Finally, disagreement exists about the general

availability of proficiency testing results for trial

examination. Some maintain that such testing is

designed for internal quality assessment and feedback, and should not be applied punitively against

all work performed by a particular examiner or

laboratory. Others strongly disagree, arguing that

proficiency testing data-especially in the absence

of standards-is the only way to determine whether

reliable findings were obtained for any case. And, as

demonstrated by the studies of the CTS-FSF program, how ‘‘inconclusive’ results are classified is

important when error rates are reported.

Federal Authority To Regulate Crime

Laboratories

In theory, the Federal Government can only exercise those powers specifically granted to it in the

Constitution. None of those powers relate directly to

forensic practices in general, or to DNA typing by

crime laboratories in specific, Yet the Federal Government is not powerless in this area. With respect

to setting standards of practice for other types of

laboratories-most notably clinical diagnostics and

drug testing-Congress and the executive branch

have separately and together imposed requirements

designed to ensure consistently high quality. The

following sections examine congressional authority

to regulate forensic uses of DNA technologies, and

analyze present Federal regulation of clinical and

drug testing laboratories.

Taxing and Spending Authority

Article I, Section 8 of the Constitution states that

Congress may spend money “for the common

Defense and general Welfare of the United States.’

It is through the use of conditional appropriations—i.e., attaching strings to grants of money—

that Congress derives its power to regulate through

spending (87). The Supreme Court has upheld congressional authority to impose conditions on the use

of funds directly distributed to States by the Federal

Government. States, to the extent they wish to avail

themselves of such monies, must comply with those

conditions (40).
Chapter 3—Validity, Reliability, and Quality Assurance . 81

Direct finding of crime laboratories would give

the Federal Government the authority to determine

a wide variety of requirements for the delivery of

high-quality service. For example, the government

could attach certain conditions to funds earmarked

for crime laboratories for DNA analysis, or attach

conditions for general quality assurance to appropriations such as recent finding for drug analysis.

Several models of this type exist, for example

reimbursement criteria under Medicare for an array

of circumstances. One section of DHHS’s 1987

‘‘Medicare Program Criteria for Medicare Coverage

of Heart Transplants” (52 FR 10935) requires that

eligibility for Medicare reimbursement for heart

transplants depends on a facility’s demonstrated

experience and survival rate. For DNA analysis of

forensic samples, tying funding to actual performance on proficiency tests could have a powerful

influence on the quality of services.

In addition to stipulations for direct funding to

crime laboratories, the Federal Government also has

the power to condition the receipt of Federal monies

by a State (instead of by a single laboratory) on the

State’s taking a specific regulatory action. Examples

of these types of stipulations include recent policies

that tie State highway improvement grants to maximum speed limits or the minimum drinking age.

Thus, the Federal Government could link funds

provided to State commissions or agencies to the

adoption of certain quality assurance procedures or

regulations that effect both State and local crime

laboratories. The power to apply such conditions is

likely true even when the connection between the

State program and DNA analysis is quite attenuated

(92). Congress could mandate, for example, certain

quality monitoring protocols for States accepting

funds for prison construction or other non-DNArelated criminal justice uses.

Authority Over Interstate Commerce

The second major area over which Congress has

wide authority to regulate forensic uses of DNA

techniques is through the commerce clause of Article I, Section 8, which provides the authority “To

regulate Commerce . . . among the several

States. . . .“ Congressional authority to pass laws

relating in any reasonable manner to interstate commerce is such a broad power that judicial review

affirming the right is largely a formality (87). Most

judicial review focuses instead on the intent of

Photo credit: Federal Bureau of Investigation

A laboratory of the FBI DNA Analysis Unit, Washington, DC.

Congress to interpret the reach and scope of the

legislation.

Regulation of Products—The commerce power

provides Congress the specific authority to regulate

articles of commerce that pass between two or more

States. The Federal Government clearly could use

the commerce authority to require licensing of

forensic facilities that solicit or provide forensic

DNA typing services to out-of-State clients, as it has

for medical laboratories engaged in interstate commerce (42 U.S.C. 263). At the moment, only a

handful of facilities would be subject to regulation

by Congress under this authority. Extremely broad,

this authority also could be used to establish a

mechanism to regulate products used in DNA typing

for forensic applications.

Monitoring the Use of DNA Technologies-Congressional and executive interest and oversight of

DNA technologies is not unprecedented. Recombinant DNA technologies have been subject to

Federal scrutiny since the early 1970s. The NIH

Recombinant DNA Advisory Committee, its Working Group on Human Gene Therapy, and more

recently the Biotechnology Science Coordinating

Committee have all been established to monitor or

regulate various uses arising from the new genetic

technologies. Thus, the Federal Government could

establish a committee or commission to monitor or

regulate forensic applications of DNA tests.

As mentioned, the FBI is the principal investigative arm of the Department of Justice, with no direct

authority to regulate individual crime laboratories.

The FBI is under the authority of the Attorney

General and acts under the Attorney General’s
82 ● Genetic Witness: Forensic Uses of DNA Tests

general statutory authority. Some suggest that the

FBI should use its authority to issue official standards for DNA analysis of forensic casework. On the

other hand, others oppose an official role for the FBI,

believing its laboratories and research facilities

should be subject to an independent commission or

authority established to provide guidance and oversight of all private and public entities that do forensic

DNA identification.

SETTING STANDARDS

Setting standards for forensic applications of

DNA testing is the most controversial and unsettled

issue, yet standards are the cornerstone of quality

assurance. Technical and operational standards

for DNA typing in forensic casework are needed,

and needed soon. The FBI (23), industry, molecular

biologists, biochemists, population geneticists, and

forensic scientists all agree that standards are desirable. Agreement on what standards are appropriate, who should decide, how implementation of

standards is best achieved, and whether they

should be mandatory has not yet been reached.

Technical standards are needed to specify proper

gel controls, electrophoresis conditions, the extent

that computer-assisted matching should be permitted, population data to compute probabilities of

matches, and many other parameters. It appears that

setting technical standards-allowing flexibility for

the vagaries of forensic casework and emerging

scientific developments—is within reach. A majority agree that such efforts should include balanced

input from all relevant scientific disciplines.

In contrast, operational standards, such as recordkeeping and proficiency testing, are likely to be more

controversial, for attempts to regulate any sector

have historically been met with resistance. Nevertheless, such standards are necessary if full quality

assurance is to be achieved. Forensic scientists—

practitioners and educators—argue that they are

most knowledgeable about how best to set operational standards that achieve quality and meet the

needs of crime laboratories without being unduly

burdensome. Some in the forensic community are

prepared to meet this challenge.

Yet while many forensic scientists acknowledge

the need for standards in DNA typing, they resent the

imposition of such standards by another scientific

community unfamiliar with the vagaries of forensic

casework—i.e., molecular geneticists. Some molecular geneticists, on the other hand, believe their

experience over the past two decades with recombinant DNA technologies places them in a position to

define how DNA tests should be applied to forensic

casework. In fact, both communities can and should

contribute to standard setting. Forensic practitioners

are most familiar with the practical problems and

unique situations that can arise in the course of an

investigation, which are situations not encountered

by molecular geneticists in laboratories. Likewise,

research molecular biologists have knowledge about

DNA tests on which forensic examiners can draw.

Forensic academicians, who often are involved in

early stages of evaluating basic research tools before

a technology transfers into crime laboratories, are

perhaps well placed to bridge the gap between crime

laboratory personnel and genetics researchers.

Many have expressed the opinion that an independent commission is the best mechanism to handle both technical and operational standards. Others

call for a lead role for the FBI, which some reject as

a conflict of interest. Still others seek Federal or

State legislative solutions. In any case, crime laboratories and forensic research have generally been

underfunded, and new requirements will only increase financial difficulties. In addition, various

Federal grant assistance mechanisms have been

severely reduced or eliminated in the past decade.

Thus, while development of standards for recordkeeping and proficiency testing should be encouraged to

move forward, their costs should be recognized.

Nevertheless, formalizing quality assurance mechanisms, including standards, should proceed without delay. Such efforts will assist crime laboratories

making decisions about using DNA profiling onsite

(see ch. 6), private laboratories, the Federal Government, and the courts.

Some commentators contend that ultimately the

judicial process can provide a stringent test of

scientific evidence and the quality of work in a

particular case. Others strongly disagree, maintaining that it seldom does. The vast majority of scientific evidence introduced in criminal cases goes

unchallenged by the opposition, usually the defense

(72), which generally lacks sufficient resources to

dispute such evidence. Many argue that reliance on

judicial review for quality assurance has been an

unfulfilled promise.
Chapter 3—Validity, Reliability, and Quality Assurance ● 83

STANDARDIZATION

Setting standards to ensure quality is distinct from

developing a uniform, national system—i.e., standardization-of DNA typing within the forensic

science community. Some contend that standardizing the process is institutional insurance-an additional layer of quality assurance. Others maintain

that while this step is a necessary component of

usable investigative DNA databanks, its role in

ensuring quality is minimal. Still others believe

standardization could stifle rapid integration of future innovations.

No amount of standardization, especially of procedures, however, can be substituted for appropriate

scientific analysis during the progress of an individual case. By nature, nothing is routine in forensic

casework. The discretion of a qualified investigator

to evaluate a situation and implement appropriate

measures-within standards that need to be established—is a fundamental component of quality assurance.

Is standardization desirable, or even possible?

Chapter 5 discusses standardization in greater detail.

Nevertheless, achieving some modicum of standardization (e.g., for restriction enzyme-probe combinations used and data interpretation), appears necessary for an effective, national database.

FINDINGS AND SUMMARY

Prior to the DNA era, the genetic analysis of

forensic samples was based strictly on a paradigm of

exclusion. Each genetic marker provided limited

information that eliminated a fraction of the general

population as the originator of a sample (e.g.,

excluding 30 percent, 67 percent, or 1.2 percent of

persons as potential contributors), depending on the

marker detected and the test result. Combining

results for several different markers reduced the pool

of persons who could have contributed to the biological sample. The objective, of course, was to exclude

as many individuals as possible—i.e., to reduce the

number of potential sources to the smallest possible

value.

DNA tests operate no differently. Yet their potential power to discriminate has altered the perception

that genetics can be used only for positive exclusion,

not positive identification. Among all humans except identical twins, no two share the same DNA

sequence. Using single-locus probe analysis, forensic examiners can accurately detect some of these

differences to the extent that examination of several

DNA markers can lead to a report that is, in effect,

perceived to be a statistically positive association

between an individual and a piece of biological

evidence. This change in perception, however, does

not alter the fact that forensic uses of DNA tests—

like traditional genetic marker analysis—

are valid.

Are DNA tests reliable? Under routine conditions

of use, do they perform reproducibly within a

laboratory, across many laboratories, and in the

hands of different practitioners? OTA finds that,

properly performed, DNA tests per se are reliable. Serious questions are raised, however, about

how best to ensure that any particular test result

is reliable. These questions focus on data interpretation, how to minimize realistic human error, and the

appropriate level of monitoring to ensure quality.

Such questions, which stem from actual court cases,

underscore the need to develop both technical and

operational standards now.

Standards alone should not be construed as making evidence analysis absolutely reliable. Standards

would, however, provide a benchmark against which

all interested parties can judge a particular analysis.

Undoubtedly some queries will still arise on a

case-by-case basis. At such times, specific details

can and should be evaluated in court. But, with time

and implementation of standards, such questions

should decrease.

What standards are needed for private and public

facilities doing forensic DNA testing, and who

decides? At present, only a vague consensus exists

for the first question, and none for the second. Nor

does consensus exist on how standards should be

administered. Professional societies are making efforts toward regularization of forensic uses of DNA

tests, as is the Federal Government, especially the

FBI and NIST. Some contend that such efforts are

insufficient because compliance is, or will be, entirely voluntary. These voices argue that quality

assurance lapses in both private and public facilities

will persist with voluntary guidelines. Balanced

against this is the belief of many that voluntary

standards are sufficient. Implicit in this point of view

is the conviction that consensus and implementation

of technical guidelines and standards is imminent.

Yet while consensus has been achieved for some

issues, other areas remain contentious. One area
84 ● Genetic Witness: Forensic Uses of DNA Tests

needing particular attention is the population genetics of RFLP analysis. Controversy centers on the

size of the databases used and the precise approach

that should be used to calculate population frequencies. Some argue that the magnitude of the number

is not the issue, just that the analyst assigns it with

confidence that genetics principles have been adhered to. Others argue that because of the pivotal

role population frequencies can play in reporting

results of forensic DNA tests, agreement is necessary. Nevertheless, using certain conservative assumptions probably allows an analyst to assert a

likelihood that matched samples came from the

same person. General agreement does exist that any

potential bias that could result from calculating

population frequencies favor a defendant.

One area of population genetics of forensic DNA

typing might have an impact on both data analysis

Photo credit: Gary Ellis

and privacy considerations (see ch. 5). The dynamic

and diverse nature of the U.S. population calls for

special attention to collection and classification of

genetic differences based on ethnic and racial subgroups. For example, genetic data classified as

‘‘Hispanic’ on the basis of self-identification or

surname could skew reported population frequencies, since DNA profiles for Mexican-Americans v.

other Hispanic individuals, including those of Puerto

Rican, Cuban, or El Salvadoran descent, could

differ. Increased population data for RFLP analysis

would benefit both questions of population substructuring, as well as calculating population frequencies

in general.

Quality assurance mechanisms in forensic DNA

profiling encompass a range of options, including

certification, licensure, accreditation, and proficiency

testing. Methods to implement these options exist,
Chapter 3—Validity, Reliability, and Quality Assurance ● 85

such as efforts by professional societies, and formal,

nonregulatory methods such as consensus building

among all interested stakeholders. States have authority to regulate DNA typing for forensic purposes

by both private and public facilities, but to date no

State has enacted general licensing requirements for

private laboratories, crime laboratories, or personnel. Likewise, the Federal Government has the

authority to direct that solutions be found for quality

assurance of forensic services.

Federal efforts toward quality assurance for laboratories doing forensic DNA profiling need not

develop in a vacuum. Congress and the executive

branch have a longstanding interest in quality assurance for other laboratory services, most notably

clinical diagnostics and employee drug testing. As

such, solutions for these sectors could prove useful

in evaluating quality assurance for laboratories performing DNA analysis in forensic casework.

Setting standards for quality assurance should

proceed without delay. Such efforts will assist private laboratories, the Federal Government, the

courts, and public crime laboratories making decisions about implementing DNA profiling onsite.

Such endeavors must also acknowledge that introducing and maintaining formal quality assurance

mechanisms can be costly and time-consuming, and

will place additional personnel and financial burdens on public facilities already overwhelmed with

casework and traditionally underfunded.

Finally, many questions surrounding forensic

uses of DNA technologies are really questions of

public policy, as much as technical and operational issues of forensic practice. As such, the

influence and input of attorneys, businesses, government officials, and others in settling quality assurance issues is appropriate and important.

1.

2.

CHAPTER 3 REFERENCES

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Adams, D.E., Baechtel, F. S., and Budowle, B.,

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Chapter 4

DNA as Evidence

“Lawyers as a group evidence an appalling degree of scientific illiteracy, which ill equips them

to educate and guide the bench in its decisions on admissibility of evidence proffered through expert

witnesses,

Andre A. Moenssens

Professor of Law

University of Richmond

“In testing for admissibility of a particular type of scientific evidence, whatever the scientific

‘voting’ power may be, the courts cannot in any event surrender to scientists responsibility for

determining the reliability of that evidence. ”

United States v. Williams

583 F.2d 1194 (2d Cir. 1978)

“It (DNA) convinced me. They really never had an eyewitness to the rape. In my opinion, you

could hang somebody with DNA fingerprinting. ’

Murrel Casselman

Jury Foreman, State of South Carolina v. Ford
CONTENTS

WHAT IS EVIDENCE . . . . . . . . . .

STANDARDS FOR ADMITTING

The Use of Expert Testimony .

The Frye Test . . . . . . . . . . . . . . . .

The Relevancy Test . . . . . . . . . . .

Page

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .91

SCIENTIFIC EVIDENCE . . . . . . . . . . . . . . . . . . . . . . . 91

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .96

THE DEVELOPMENT OF BIOLOGICAL EVIDENCE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96

CONSTITUTIONAL CONSIDERATIONS IN OBTAINING

BIOLOGICAL EVIDENCE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .97

Self-Inc rimination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 97

Right to Counsel . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .98

Search and Seizure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98

Due Process . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98

THE ADMISSIBILIT’Y OF DNA TESTS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98

Acceptance in United States Courts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98

Advantages of DNA Evidence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Criticisms and Limitations of DNA Evidence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Pretrial Hearings: Offering and Rebutting DNA Evidence . . . . . . . . . . . . . . . . . . . . . . . .

DNA Evidence at Trial . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

FINDINGS AND SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

CHAPTER 4 REFERENCES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Boxes

100

101

101

107

107

109

Page

4-A. Case Study: State of Florida v. Andrews . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99

4-B. Defense-Initiated Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

4-C. Case Study: Commonwealth of Virginia v. Spencer . . . . . . . . . . . . . . . . . . . . . . . . . . .

4-D. Case Study: People of New York v. Castro . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

4-E. Case Study: State of Minnesota v. Schwartz . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

4-F. State Statutes: Admissibility of DNA Evidence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

4-G. Appellate Court Reviews of DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

100

101

103

105

107

108

Figures

Page

4-1.

4-1.

4-2.

Sources of DNA Evidence . . . . . . . . . . . . . . . .

Tables

Standards for Admitting Scientific Evidence

Expert Testimony, DNA Testing . . . . . . . . . . .

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 104

Page

. . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . 93

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 98
Chapter 4

DNA as Evidence

Scientific evidence is an important component of

many criminal and civil trials. Because it involves

technical information that is usually not well understood by laypersons, Congress, the States, and many

courts have created standards governing the admission of such evidence. Scientific evidence covers a

wide range of theories, procedures, and tests. Expert

testimony, the primary method for introducing scientific evidence, has increased dramatically as technology has evolved.

DNA evidence is a new and dramatic forensic tool

that is now at the courtroom door. How does it

compare with other types of scientific evidence in

terms of relevance, reliability, and impact? What are

the primary evidentiary considerations faced by

prosecutors in deciding whether to submit DNA

evidence? What are the main obstacles for defense

counsel in presenting or rebutting such evidence?

What points must judges consider in deciding admissibility? Will DNA testing someday become so

common that its admission will become routine, or

even expected?

This chapter briefly explains what evidence is, the

role of the expert witness in introducing scientific

evidence, the standards for the admission of scientific evidence, and the use of genetic markers and

DNA as evidence in U.S. courts.

WHAT IS EVIDENCE?

Evidence is data or information on which judgments are made. The law of evidence is the system

of rules and standards by which the admission of

proof in a court of law is regulated (29). Evidence

takes many forms, including testimony of witnesses,

records, documents, exhibits, facts stipulated by

both sides, and anything perceptible to the five

senses (20). The rules and standards that make up the

law of evidence address the admissibility, relevancy,

and sufficiency of various types of proof. The

ultimate objective of evidence in a criminal case is

to convince the judge or jury of the prosecution’s or

defense’s contention.

Rules concerning the admission of evidence exist

at both the Federal and State levels. The Federal

Rules of Evidence (codified in volume 28 of the

United States Code Annotated) govern proceedings

in Federal courts and before U.S. magistrates (Rule

101). State rules of evidence govern proceedings in

the tribunals of various State, county, and local

jurisdictions. Although the Federal Rules of Evidence do not govern the proceedings in the courts of

the 50 States, they serve as the model for the

evidence codes of 32 States (19).

Enacted by Congress in 1975 (Public Law 93-

595), the Federal Rules of Evidence address relevancy, privileges, witnesses, opinion and expert

testimony, hearsay, authentication and identification, and the contents of certain types of tangible

items.

STANDARDS FOR ADMITTING

The use of scientific evidence, although not new,

presents a unique problem because it involves information that is “beyond the ken” of the average

layperson (29). Such information normally cannot

be presented without touching on data that are

beyond firsthand observation of the facts of a particular case, and indeed requires the inclusion and

examination of opinions not permitted under normal

rules of evidence. This dilemma has resulted in the

formation of rules-at the Federal and State level,

both by statute and court action-for the admission

of scientific testimony.

The Use of Expert Testimony

A general rule of evidence is that a witness may

testify only to facts known to the witness through

firsthand observation and inferences based on direct

observations (e.g., the identity of a person, the color

of a car, the rate of speed of an automobile). The

testimony of a lay witness, therefore, does not

usually extend to facts beyond direct observation.

This requirement has its roots in English common

law, which demanded that witnesses test@ only

about ‘‘what they see and hear’ (29). Such a

standard created the need for a special rule to permit

the introduction-through an expert witness-of

scientific evidence that is beyond the normal observation of a layperson.

Over the course of history, the courts have encountered issues that require analysis and explanation

by persons with scientific or specialized knowledge

or experience. This situation, associated with the

development of various fields of science, led to the

evidentiary use of expert testimony at trial (30). The

–91_
92 ● Genetic Witness: Forensic Uses of DNA Tests

Photo of Assessment
Chapter 4-DNA as Evidence ● 93

use of expert witness testimony in U.S. criminal

trials has expanded over time to include many

relevant subjects.

Unlike an observer witness, the expert witness has

the power to draw inferences from facts that a jury

would not be competent to draw. To warrant the use

of expert testimony, two elements are required:

●

●

The subject of the inference must be so distinctively related to some science, profession, business, or occupation as to be beyond the ken of

the average layperson.

The expert must have sufficient skill, knowledge, or experience in that field or calling so

that the opinion or inference will probably aid

the judge or jury in the search for the truth.

The principal consideration, as stated by one

treatise on evidence, is whether on this subject a jury

can receive from this person appreciable help (44).

It is through the use of expert testimony that scientific tests and data are introduced, explained, and

rebutted.

A problem arises when an attempt is made to

deduce expert opinion from a procedure that has not

yet received widespread scientific recognition (30).

A key element is whether the scientific test in

question is trustworthy, which has two components—

accuracy (validity) and consistency (reliability). The

trustworthiness of scientific evidence is usually

evaluated under one of two standards: the Frye test

(or “general acceptance’ test), or the relevancy test

(based on the Federal Rules of Evidence) (table 4-l).

The Frye Test

The so-called Frye test, named after the defendant

in a 1923 murder case (11), is the oldest and most

often used test in determining the admissibility of

scientific evidence. Under the Frye standard,

courts admit evidence based on novel scientific

techniques only when the technique has gained

general acceptance in the scientific community to

which it belongs.

Prior to his trial, James Alfonso Frye was subjected to a systolic blood pressure deception test

(i.e., a lie detector test). As explained by the court:

. . . the theory seems to be that the truth is spontaneous, and comes without conscious effort, while

the utterance of a falsehood requires a conscious

effort, which is reflected in the blood pressure. The

rise thus produced is easily detected and distinguished

from the rise produced by mere fear of the examination itself.

Frye’s lawyer offered the scientist who conducted

the test as an expert witness. The government’s

counsel objected to the use of such expert testimony,

and the trial court sustained the government’s objection. The appellate court’s two-page decision

cited no previous case law and ended with the

following two paragraphs, which have evolved into

the leading test for all types of novel expert testimony:

Just when a scientific principle or discovery

crosses the line between experimental and demonstrable stages is difficult to define. Somewhere in

this twilight zone the evidential force of the principle

must be recognized, and while courts will go a long

way in admitting expert testimony deduced from

well-recognized scientific principle or discovery, the

thing from which the deduction is made must be

sufficiently established to have gained general acceptance in the particular field in which it belongs.

We think the systolic blood pressure deception

test has not yet gained such standing and scientific

recognition among physiological and psychological

authorities as would justify the courts in admitting

the expert testimony deduced from the discovery,

development, and experiments thus far made (11).

The general acceptance test under the Frye standard appears to require a two-step analysis:

identifying the field in which the underlying

theory falls (i.e., in determining whether the

technique meets the test of acceptance in the

scientific community, defining what community

is relevant); and

determining whether the principle has been

accepted by most members of the identified

field.

Fulfilling the first element can be difficult, especially if several fields of scientific endeavor are

involved. Expert testimony for voice prints, for

example, has been held by one court to include the

Table 4-l—Standards for Admitting

Scientific Evidence

Standard Test Source

Frye . . . . . . . . . General acceptance by the 1923 case

scientific community

Relevancy . . . . Relevant to the trier-of-fact Public Law

93-595

SOURCE: Office of Technology Assessment, 1990.
WHEN ONLY AN EXPERT WILL DO...R

Nearly 15,000 experts in more thanfour thousand

categories. Here is a partial listing.

A

Acc[dent Reconstruction

Accounting

Acoustlc~

Actuar!es

Adhes]ves & Glues

Advert]s!ng

Aer]al Charts & Surveys

Aeronautical

Aerowi Cans

Aff]rmat!ve ActIon

Agricultural Mach!ne

Safety

Agriculture

Agronomy

Alr & Water Pollullon

Alr Condltmnlng

A!rpwts

Alarm\

Amusement Ride\

Animal Hushandry

Appllance\

Appra]\lng

Archeology

Architecture

Ar\on

Asbestos

A\tronomy

Athletlc’s

Audio

Automatmn

Automotive

Avlatmn

B

Bacteriology

Ball I\tIc\

Bank]ng

Batteries

Btcycle\

Blocheml\try

Bioeng!neer!ng

Bmlogy

Blast!ng

Bleacher\ Design

Boating & Boat Safety

Botler~

Botany

Bottl]ng

Brakes

Bridges

Bu!ldmg Des]gn

Bulldmg Management

Bulldozer\

Buse\

Business C)peratlons

c

Cable Televl\ion

Campus Safety

Carcinogens

Cargo Handllng

Cartography

Cement & Concrete

Ceramics

Chain Saws

Chemical Engtneerlng

Chemistry

Ch]ld Abuse

CIVII Engtneerlng

Coal Mlnlng

Commumcatlons

Computer Science

Condemnation

ConstructIon

Consumer Behavior

Container\

Contaminant\

Controls

CcmveyOr\

Copyright Infringement

Corr05]0n

Crane\ & Hol\t\

Cra$hworthlnes\

CrOs\lng!

Crowd Control

Cutt!ng Machine\

D

Dairy Operatmn\

Dam\

Data Processing

Deck Mach!nery

Demographic\

Demoltt80n

Dentistry

Di\a\ter Con[lngency

Plannlng

Dlvlng

Document Exam! nat!(m

Drafting

Dredg]ng

Drug\

Du\I Explosions

E

Earning Capacity

Earth Handllng

Equipment

Ecology

bconomlc\

Elecmcal Engineering

Electr]clty

Elecmc L]ne Maintenance

Electronic Surveillance

Electronic\

Electron M]crowmpy

Elevator\ & Escalators

Energy & Fuel\

Entertmnment Industry

Environmental Englneer]ng

Equal Opportunity

Exerc I\e Phy\lology

Explosion\

Explo\]ve\

F

Fa]lure Analys!s

Farm Equtpment

Fastener\ & Coupl]ngs

F!nance

Flngerpr!nt Analysts

Firearms

Fire Invest] gatron

Fl\h]ng & F[sherles

Flammabl I]ty

Flavor Chem]stry

Fleet Maintenance

Flooding

Food & Food Processing

Food Chemlstrv

Forestry ‘

Fork L!fts

Formaldehyde

Freight Handling

Fuels & Fuel Sy!lem\

Furnaces & Stovei

G

Gambl]ng Device\

Gas Explo$mns

Gears & Tran$ml\\mn\

Gem Ident!flcatlon

Geography

Geology

Gla\\ Fracture Analysts

Golf Course Safety

Government Contract\

Grain Explosions

Gran Handl!ng

Graph]c\

Grlndlng Wheel\

Guardrails

G) mna\!um Floor\

Gymna\[]c.

H

H.md Tools

Handwrlt}ng

Harbors & Port\

Hdzardou\ M.iterlal\

Health Care Fac I Ilt !es

Hearing Impairment

Heating & A!r

Cond!t]onlng

Helmet\ & Hard Halt\

H]ghway Safety

Hol\t\

Home Appllan~e\

Horsemanship

Horticulture

Hos@al Safety

Ho\tage Negotlatlon

Hotels & Motel\

Human Factor\

Hydraul !m

Hydrology

I

Ice Rink\

Industrial Design

Industrial Eng]neenng

Industrial Hygmne

I nformallon %lence

Infrared Technology

Inland Waterway!

In\tmment Design

Insulation

ln\urance

International Arbitration

Intrauterine Device\

Irrlgatlon

J

Ja]ls & Prisons

Jan]tortal Operations

Jet A]rcraft No!w

Jet Eng]nes

Jewelry

Job Analysls

Journall\m

Judo

Jury Selection

Juven! Ie Delinquency

K

Karate

Kayaking & Cdnoelng

Keg\

Kero+ene

Ketone\

Kiln\

K lnet]c\

Kitchen Equ!pment

Knlve\

Kn(>t\

L

Labellng

Ldbor Rel.itmn\

Ladders & Scaffolding

Land\ c.iplng

Languagei

L,iwr\

Law Enforcement

Lawn & Garden Equ!pment

Libel

Lighf!ng

Lock\

Lo\\ PreventIon

Lubr)c.mt\

Lumbering

M

Mach!ne De~lgn

Maintenance

Malpractice

Manufactumng

Mar!t !me

Marketing

Mart]al Arts

Materl.ils

Materials Himdl Ing

Mathematical Modeling

Mathematm

Mechanical Eng]neerlng

Medicine

Metal Iurgy

Meteorology

M]ning

Mobile Homes

Mortuary Sc!ence

Motorcycles & Mopedi

Motors & Engjne\

Moveable Cranes

Musical lnstrument~

SINCE 1961

N

Na]ls & Nail Guns

Natural Gas

Nava I Architecture

N.ivlgatlon & Seaman>h!p

Neon Llght[ng

Nerve Gases

Neummu\cular Control

Neurop\ychology

N O I $e PO] Iut![m

Nonferrou\ Met.il\

Nuclear Safety

Nuclear Science

Nurs, ng

Nur\lng H(?me\

Nut r]t Ion

o

Obwen!ty

oceanography

Occupant Safety. Aero

Occupant Safety. Auto

om upati(m,il Therapy

Odor\

Of f!ce Equipment

Of t\h(we 011 Operdtl(m\

01 I & G.i\ Re\er\es

011 Burner\

0! I Drl I Itng & Lxplord[l(m

011 Spills

Oper~t!ons Re\edrch

optic\

Ordnance

Orn!!holog!

OSHA

@tb(ldrd M(~t(~r\

O\ en\

()\ erhead Cranes

P

P~~kaglng & Cent.i]ner\

Pdln & Suffer]ng

P,i]nl\ & C(kit!ng\

Par,i~ hutes

Pdtent\

Pe\tlc !des

Petroleum

Phwmaceut!cal\

phdrm.iUllOgy

Phy \Ical Tra!nlng

Phy \l~\

PI l(M\

Plt Bulls

PI dstlcs

Plumblng

PolIcc Procedure\

Pol lut)on

Pornography

Prlntlng

Pmpert y T.ixe\

Prmthetlc Dev!ce\

Protective Equ!pment

TECHNICAL ADVISORY SERVICE FOR ATTORNEYS

Headquarters:

1166 DeKALB PIKE

BLUE BELL, PA 19422-1844

(215)275-8272 FAX:(215) 275-5577

Psychology

Publ IC fJII III!e\

Q

Qual,tatlve Analysl\

Qual,ty Control

Qudnt!tative Andl) \I\

Quantum Cheml\try

Quantum Mechantc\

Quantum Phys,cs

Qudrry,ng

Quartz

Questioned Do, ument\

Que\tlonn.ire\

Qu!ck Releaw Fa\teners

R

Racing

R.idlatlon Hdzard\

Radio & Te Iev Is Ion

RdI I road Cros\ I ng\

RaI Iroiiding

Range Management

Redl E\tate

Recreation

Refngeratlon

Regu I alory Agenc Ie\

Reh.ibl I Ilatlon

R jggi ng

Rmt C(mtro I R!ver\ & Waterwdy \

Robot\

Root~

Rug! & Carpet\

Running Shoe\

s

Sdfely

S.ifet) Belts & Re\tralnt\

Sanlrary bnglneerlng

Satellite Communlcdion\

Sawmi I I Operation\

S~dtfoldtng

Seiiman\blp

Se~ur]ty & Alarm.

Sei\mol(]gy

Shoe De\!gn

Shore\ & C(xi\I I ine,

Signal System\

Sk!lng

Snowmobile\

Swldogy

S[)l l\

Solar Eng!neerlng

Space Oper410n9

Sport\ & Sport Facilities

std[litlc~

Stock Mdrke!

Structural Englneenng

Suic Idology

Surveying

Swlmm}ng

T

Tank Trucks

Tape Analy\ls

Televl\lon & R.idlo

Terrorl\m

Tex[l le\

Thermography

Tire\

Tool\

T[Ix140gy

Toy #

Traft IL Englneerlng

Trdn\port at Ion

Trucks & Buse\

Tv pewr!ter Ident]t !catmn

u LI Itrd,,,n, c,

U Irravlolet Detect!on

Underground Storage

Underground Tech n(llog)

Underwa[cr Photography

Underwater Technology

Ur.inlum Mining

Llrban A ff a,r,

Urban Plann!ng

Urban Tran\lt Sy \tems

[ III Itle.

v

Vac c I ne.

Vacuum Englneerlng

Value Analy\l\

Value Englneertng

\dlve\

\dn\

Vapor Barrier\

Vehicle S.ifety

kentl Idt non

kcter)n.iry Med!’lne

VI brat Ion

\ Ilk

VI ny I

Vlr(ll[)gy

\ I won & vl\Udl

Percept Ion

V]slon Safety

Vocallonal Rehiib, Iwtlon

Vo]ce lden\lflcat!on

Wage\ & Hour\

w—

Warehou$kng

W’hrnlng Sy\lem\

Wa\te Treatment

Water & A!r Pollull(m

Water Fac I lltle\ &

Systems

Waler Safety

Weapon\

Weather

1 (800) 523-2319

Weld!ng

Wheel\ & Rim\

Wlnche\

WI ndows

Wire Rope & Cable

Wood

Wood Shop Sdfety

Wood Stove\

Work men \ Compen\at Ion

x

Xerography

X-ray Analy\l\

X-r.iy AppiirdIU\

X-ray Dlffractmn

X-ray, Radmlogy

X-r.y Speclrowopy

X ray Therapy

Y

Ydcht Brokerdge

Ydchtlng

Yard Cr.it[

Yard Perwlnnel

Ydrn

Yeast \

Y(~ke\ & Couplings

z

Zero Gra\ II)

bnv Irrmment.

Zinc Mlnlng &

Technology

Z]pper\

Z(mlng

Lmllogy

USED WITH PERMISSION OF THE COPYRIGHT AND SERVICEMARK OWNER

TECHNICAL ADVISORY SERVICE, INC
Chapter 4-DNA as Evidence . 95

Photo credit: Holly Gwin

Burial site of James Alphonso Frye, Arlington National

Cemetary, Arlington, VA.

Photo credit: Margaret Anderson

James Alphonso Frye was convicted of the 1920 murder of

a physician, Dr. Robert W. Brown, who was slain in his

office, located in this building in Washington, DC.

fields of anatomy, physiology, physics, psychology,

and linguistics (32).

Once the relevant field has been identified, inquiry can be made as to whether the technique in

question has been “generally accepted” by members of that field. The Frye decision itself provides

no specific threshold for what constitutes general

acceptance, other than to note that at some point a

principle crosses the line between “experimental

and demonstrable stages” (11). Courts have developed varying definitions of what constitutes ‘ ‘general acceptance” by members of the field (13).

The Frye test has several perceived advantages

and drawbacks. Its proponents note that the test

guarantees a minimal amount of support by experts

for a scientific test or procedure prior to its introduction in a court of law. As noted by one court, the

experts “form a kind of technical jury, which must

first pass on the scientific status of a procedure

before the lay jury utilizes it in making its findings

of fact” (31).

On the other hand, the Frye test has been criticized

for being difficult to apply and for relying on a

theory of ‘general acceptance’ that may not equate

with scientific reliability and validity. Some commentators note that workers in a novel area sharing

a common goal can develop a technique that furthers

their professional aims and they can “generally

accept’ it regardless of its scientific reliability (30).

Others point out that a literal reading of the Frye

standard would always result in a “cultural lag. ”

During this time, the new method can diffuse

through the scientific discipline and create the requisite body of scientific opinion needed for general

acceptance, but in that interim such evidence would

be precluded (14).
96 ● Genetic Witness: Forensic Uses of DNA Tests

The Relevancy Test

The alternative to the Frye standard is based

on the Federal Rules of Evidence, which address

the use of expert testimony and favors the admission of all relevant evidence.

Originally promulgated by the Supreme Court

under its authority to prescribe the general rules for

Federal civil and criminal proceedings, the Rules

were subject to intense scrutiny by Congress prior to

enactment in 1975. The Federal Rules of Evidence

were designed to secure fairness, eliminate unjustifiable expense and delay, and develop the law of

evidence so that the truth may be ascertained and a

just verdict rendered (Rule 102). They codify a

case-by-case common law approach to evidentiary

matters in the Federal courts. The Rules have been

amended in 1975, 1978, 1982, and 1984.

Relevant evidence is defined as that having any

tendency to make the existence of any fact that is of

consequence to the determination of the action more

probable or less probable than it would be without

the evidence (Rule 401). If a person is not testifying

as an expert, such testimony in the form of opinions

or inferences is limited to those opinions or inferences that are rationally based on the perception of

the witness and helpful to a clear understanding of

the testimony or the determination of a fact (Rule

701).

Rule 702 defines expert testimony:

If scientific, technical, or other specialized knowledge will assist the trier-of-fact to understand the

evidence or to determine a fact in issue, a witness

qualified as an expert by knowledge, skill, experience, training, or education, may testify thereto in

the form of an opinion or otherwise.

Rule 702 embraces a liberal interpretation concerning who is an expert and when a witness may

testify in an expert capacity. The subject of the

testimony need not be beyond lay comprehension, it

can just be an area where expert help would be of

assistance (34). This rule regulates the expert’s

major premise the types of theories, techniques,

and principles that the expert may rely on (19).

Rule 703 describes the bases of opinion testimony

by experts:

The facts or data in the particular case upon which

an expert bases an opinion or inference maybe those

perceived by or made known to the expert at or

before the hearing. If of a type reasonably relied

upon by experts in the particular field in forming

opinions or inferences upon the subject, the facts or

data need not be admissible in evidence.

This rule addresses the expert’s minor premise,

i.e., the case-specific information to which the

expert will apply ‘the major premise (19). The

Advisory Committee that drafted the Federal Rules

of Evidence noted that Rule 703 permits expert

witnesses to draw facts or data from three possible

sources:

●

●

●

firsthand observation of the witness (e.g., a

treating physician);

hypothetical questions posed to the expert or

testimony heard by the expert at trial; and

presentation of data outside of the court (e.g.,

numerous publications, diagnoses, public opinion polls) (35).

Although an expert can rely on underlying data

and need not disclose such data to the trier-of-fact

(either a judge or a jury), the court retains the power

to require the disclosure of underlying data. Underlying facts or data can also be investigated on

cross-ex amination of the expert witness (Rule 705).

The court can appoint its own expert witness in

addition to experts supplied by the parties (Rule

706), which can help in situations in which the

practice of shopping for experts, the venality of

some experts, or the reluctance of reputable experts

is viewed as a problem (35).

Some argue that the relevancy standard is more

liberal than the Frye standard in permitting the

admission of novel scientific evidence in that it

generally permits the admission of evidence that is

relevant (14). Others, however, note that both standards require levels of scrutiny that would force

the proponent of DNA typing evidence to address

precisely the same technical issues (15).

THE DEVELOPMENT OF

BIOLOGICAL EVIDENCE

Forensic evidence has been admitted into Federal

and State courts for decades. Such evidence spans a

wide range of scientific and professional disciplines,

and encompasses many arts and final products.

Scientific evidence can be designed to identify a

person or an object (e.g., through fingerprint analysis; bite mark analysis; microanalysis of fibers, hair,
Chapter 4-DNA as Evidence . 97

paint, and trace evidence; photographs; or handwriting and document analysis); to describe a phenomenon or action (e.g., through radar speed detection); or to determine individualization (i.e., finding

enough properties of comparison that can render it

unique or show that two compared items shared a

common origin).

Serology, the forensic field dealing with body

fluids and their reactions and properties, plays a key

role in the introduction of biological evidence. No

area of forensic science progressed as rapidly during

the 1970s as serological analysis (14). A variety of

biological matter has been investigated for use in

criminal and civil cases:

Blood typing is most commonly used as evidence in crimes of violence, and has become

widespread in paternity cases. Through analysis, conclusions can be reached as to the source

(human or animal), type, and sex of source.

Micro-serological analysis of a semen specimen can answer the following questions: Did

the victim engage in sexual intercourse within

the recent past? Is the semen of human origin?

If so, can a defendant be excluded as the

source?

Identifying the genetic origin of saliva stains

can be important if such evidence comes from

a “secretor” (i.e., is part of the approximately

80 to 85 percent of the population having blood

group substances in their body fluids, such as

saliva, tears, and perspiration) or identifies the

source as a “nonsecretor” (30).

Hair retains its structural characteristics for

extremely long periods, which makes it of

potential importance in identifying corpses (e.g.,

disaster victims). The ascertainment of color,

structure, and pigmentation can be probative in

certain circumstances.

Forensic toxicology, which involves

and identification of toxins, poisons,

added substances, can yield important

evidence in cases where the presence of

drugs is a relevant consideration.

the study

and other

biological

alcohol or

CONSTITUTIONAL

CONSIDERATIONS IN

OBTAINING BIOLOGICAL

EVIDENCE

By examining various types of biological evidenceblood, semen, hair, and now DNA—authorities can

determine whether certain suspects are linked to

various crimes. Before deciding whether such evidence meets established standards for admissibility,

it must be determined whether procurement of the

samples violates constitutional guarantees regarding

self-incrimination, right to counsel, search and seizure, and due process. This discussion highlights

several constitutional issues that can arise; a comprehensive examination of such issues is beyond the

scope of this report. Constitutional issues relating to

computer technology and informational privacy are

discussed in chapter 5.

Self-Incrimination

Since the Fifth Amendment to the U.S. Constitution holds that “No person. . . shall be compelled in

any criminal case to be a witness against himself,”

one constitutional issue raised is whether the information obtained from physical evidence constitutes

self-incrimination. The leading case addressing this

is Schmerber v. California (37), which involved a

defendant who was arrested at a hospital while

undergoing treatment for injuries suffered in an

automobile accident. At the direction of police, a

blood sample was obtained from the defendant, who

claimed that the extraction violated the privilege

against self-incrirnination. In rejecting this argument, the Supreme Court drew a distinction between

communicative or testimonial evidence (which is

subject to the privilege against self-incrimination)

and physical or real evidence (which is not protected). The court noted that the privilege ‘offers no

protection against compulsion to submit to fingerprinting, photographing, or measurements, to write

or speak for identification, to appear in court, to

stand, to assume a stance, to walk, or to make a

particular gesture. ’

Under Schmerber, obtaining evidence for most

forensic techniques is free from Fifth Amendment

concerns because these techniques involve physical,

not testimonial, evidence (14). DNA testing is likely

to fall into this standard as long as the technology is
98 . Genetic Witness: Forensic Uses of DNA Tests

limited to identification purposes akin to fingerprints, voice exemplars, urine samples, and sobriety

tests. Complications could arise, however, if DNA

testing reveals information that is seen as being

testimonial in nature (more akin to, e.g., compelled

disclosures during a psychiatric examination) (10).

Right to Counsel

The Sixth Amendment guarantees an accused the

right to have the assistance of counsel. Does the

collection of biological trace evidence trigger the

right to counsel? Generally, the answer is no, since

the right to counsel attaches only after the initiation

of adversary judicial criminal proceedings—

whether by way of formal charge, preliminary hearing, indictment, information, or arraignment (23).

The collection of biological samples most often

occurs during the investigatory stage, prior to charges

being filed or an arrest being made. Further, samples

taken later in adversarial proceedings (e.g., prior to

release, as mandated by several State laws) occurs

after counsel has been obtained, and are subject to

protections in the adversarial process such as discovery, cross-examination, and rebuttal evidence.

Search and Seizure

The Fourth Amendment guarantees the right to be

secure against unreasonable searches and seizures.

Since the Amendment extends to persons, houses,

papers, and effects, issues relating to this area can

extend to search and seizure of the person (e.g.,

arrest) as well as to obtaining samples from homes

and other locations.

An arrest is a “seizure” of the person for Fourth

Amendment purposes. For an arrest to occur, authorities must have probable cause that a crime has been

committed and that the suspect is the person who

committed the crime. Generally, if the arrest is valid,

the seizure of physical evidence from the person

arrested is also valid (14).

Case law and literature on the search and seizure

of physical evidence is too comprehensive for discussion here. Fourth Amendment issues span a

variety of legal questions involving a multitude of

fact patterns. To date, OTA is aware of one appellatelevel case involving DNA testing where Fourth

Amendment issues were raised. In that one case, the

court did not review the claim that the taking of a

blood sample violated the Fourth Amendment, since

defendant had consented to the procedure (8).

Because of the complexity of issues that can be

raised on Fourth Amendment grounds, cases involving the search and seizure of evidence for DNA

typing will undoubtedly arise; they are unlikely,

however, to focus on issues unique to DNA evidence

per se.

Due Process

The 14th Amendment of the Constitution forbids

States from depriving any person of life, liberty, or

property without due process of law. The 14th

Amendment due process clause, as interpreted by

the Supreme Court, protects individuals against

State-sanctioned violations of the Bill of Rights

(27). Since cases involving scientific evidence would

probably be argued in terms of Fourth, Fifth, or Sixth

Amendment grounds, one writer has suggested that

the validity of an independent due process analysis

in these cases is questionable (14).

THE ADMISSIBILITY

OF DNA TESTS

DNA typing is the latest in a number of scientific

techniques designed to link individuals to a crime

scene, and has so far been widely accepted in U.S.

courts. Three commercial laboratories-Lifecodes

Corp. of Valhalla, NY; Cellmark Diagnostics of

Germantown, MD; and Forensic Science Associates

of Richmond, CA—and the Federal Bureau of Investigation (FBI) have provided expert testimony in 216

criminal cases (table 4-2). The FBI began testing

samples for court use in December 1988 (18).

Acceptance in United States Courts

First introduced in a United States criminal court

case in 1986, DNA testing gained national attention

following its introduction in a Florida sexual assault

case in 1987 (38) (box 4-A). As of January 1990,

Table 4-2—Expert Testimony, DNA Testinga

Company/institution Number of cases

Lifecodes Corp.

(Valhalla, NY) . . . . . . . . . . . . . . . . . . . . . . . . . 94

Cellmark Diagnostics

(Germantown, MD) . . . . . . . . . . . . . . . . . . . . 66

Forensic Science Associates

(Richmond, CA) . . . . . . . . . . . . . . . . . . . . . . . 15

Federal Bureau of Investigation

(Washington, DC) . . . . . . . . . . . . . . . . . . . . . 41

aFigures as of January 1990.

SOURCE: Office of Technology Assessmentr 1990.
Chapter 4-DNA as Evidence ● 99

Box 4-A-Case Study: State of Florida v. Andrews

Throughout 1986, police in Orlando, FL suspected that one man was involved in over 20 cases of prowling,

breaking and entering, and attempted sexual assault. In each case, the modus operandi was similar: the man would

stalk his victim for weeks, prowling around her house and peeping through windows. When attacked, the victim

had little or no opportunity to make a visual identification.

Until Tommie be Andrews was arrested, all police had to go on were composite drawings and several calls

about a prowler. After his arrest, one rape victim (who ,

had seen her assailant for only 6 seconds) picked

Andrews out of a photo lineup.

When attorney Hal Uhrig was appointed to be the

defense attorney for Tommie Ike Andrews, his concern was not about DNA evidence. Instead, he was

worried about the amount of time and effort that would

be required for him and his small law firm to defend

Andrews against multiple rape charges. It was not until

later, after prosecutor Jeffrey Ashton read an advertisement in a legal publication about DNA testing and

discovered he was involved in the first known DNA J#

criminal case in the United States. ? #

;

defense, however, successfully challenged the in- Photo cret#t: Kevin O’Connor

production of any testimony regarding the statistical Site of criminal trial for State o~~oridav. Tommie Lee

probabilities resulting from the test. The trial ended in Andrews, Orlando FL.

a hung jury.

At the retrial, DNA evidence was again admitted. This time, however, the prosecution was prepared to argue

that statistical probabilities relating to the test should be introduced. The court, using a relevancy standard similar

to that in the Federal Rules of Evidence, admitted the statistical data. Andrews was subsequently convicted.

Prosecutor Ashton said that he was unaware at the outset that this was the first case to use DNA testing in the

United States. He feels that it will be a powerful tool in future investigations and cases, especially when the suspect

is a serial rapist who is careful not to leave much evidence.

Defense attorney Uhrig said he came away from his experience in defending against DNA evidence most

concerned about the use of statistical data, which he feels carries inordinate weight in the minds of the jury. As more

population data are collected, the numbers could become much smaller and ‘lose real-world meaning’ to juries.

Hypothetically, says Uhrig, odds of 10 billion to 1 could be introduced into court. But, if the defendant in such a

case had an identical twin (and hence identical DNA patterns), the odds would then be 5 billion to 1 of a random

match, but still a 50 percent probability that the DNA in question did not belong to the defendant. DNA typing, Uhrig

said, may well result in more rape defenses that center on consent as opposed to alibi or denial defenses.

SOURCE: Office of Technology Assessment 1990.

DNA testing had been used in criminal investiga- often applied. It is a powerful investigative tool in

tory work in at least 45 States and the District of

Columbia and had been admitted by criminal

courts in 38 States (see app. A). The numbers do not

include civil cases of paternity (Lifecodes Corp.

alone estimates that it processes 1,000 paternity tests

annually) (4).

Sexual assaults and other crimes of violence

(primarily homicides) are the types of criminal cases

to which DNA testing has been and will be most

such cases, since reliable eyewitness identification

is often not obtained.

DNA testing has been initiated and admitted for

both the prosecution and at the request of defendants

(box 4-B). It has been admitted in several cases

resulting in a death penalty sentence (box 4-C). Only

recently has this technology been challenged in

court cases on scientific grounds, although in one

noteworthy case the challenge was to the application
100 ● Genetic Witness: Forensic Uses of DNA Tests

Box 4-B —Defense-Inititied Testing

State of Kansas v. Mosley

A Topeka man who spent 5 months in jail after

being accused of sexually assaulting two women

was set free April 13, 1989, when officials announced that laboratory tests determined he was

innocent.

When he was released from the Shawnee County

Jail, Johnny D. Mosley reported he was frustrated,

but relieved. “I felt I was being treated unfairly. I

hadn’t done these crimes, and I was sick of being

accused of doing them.’

Mosley had been accused in the attempted rape

of a female gasoline station attendant, and of the

rape of a woman who was abducted from a bus stop

in Topeka. The victims both identified Mosley as

their assailant.

In dismissing charges against Mosley, prosecutor

Melanie Jack acknowledged that “the scientific

evidence excluded him. It’s the most sophisticated

type of scientific evidence you can get.”

State of Texas v. Trirnboli

A DNA test that triple-murder defendant Ronald

Stephen Trimboli had hoped would clear his name

has instead given prosecutors additional evidence

against him.

Trimboli, charged in the June 1985 stabbing

deaths of three Arlington, TX youths, requested the

test by Lifecodes Corp., which concluded that

semen found on the bedspread where one of the

three victims was raped matched a sample Trimboli

had given for the test.

A Johnson County jury convicted Trimboli of all

three murders in April 1989, and he was sentenced

to three life terms in prison.

SOURCES: As.sociated Press news whe articles, 1989.

of one laboratory’s test in one specific case, and not

to the underlying concept of DNA testing itself (box

4-D).

Advantages of DNA Evidence

DNA evidence offers several unique advantages:

. DNA typing can be used to test any DNAcontaining biological trace evidence. The composition of the DNA molecule essentially does

not vary from cell to cell; therefore, the DNA in

blood is identical to that in other biological

material such as hair, semen, skin, and bone

marrow (figure 4-1)(12).

●

●

●

●

●

●

●

●

Except for identical twins, no two individuals

are genetically exactly alike. Because of its

uniqueness, DNA allows law enforcement officials greater precision than blood typing or

other standard genetic techniques in identifying

the source of a sample of semen, blood, hair, or

tissue.

Because DNA testing is so sensitive, only a

trace amount of biological material is needed

for identification purposes.

DNA evidence can identify probative physical

evidence in some cases. For example, semen

left at the scene of a rape is more closely related

to the commission of the crime of rape than is

the presence of a fingerprint (2).

DNA is more stable and robust than enzymes

and proteins, the traditional genetic markers

examined in forensic serology laboratories.

The chances of obtaining results on older,

mixed, and degraded specimens are better than

with conventional techniques.

DNA testing is especially useful in crimes of

violence that often yield little useful evidence.

Testing is potentially very helpful in identifying perpetrators of sexual assaults where a

biological sample is likely to be found, witnesses are often lacking, and identification of

the assailant by the victim is unreliable or

nonexistent.

DNA testing can save courts time and money

by excluding innocent suspects, eliminating

trials where a confession is obtained based on

DNA evidence, and focusing defense issues in

those cases that do go to trial (e.g., consent or

alibi defenses) (9).

Using DNA test results, the crime laboratory

can establish databanks that could identify

serial criminals. For example, law enforcement

agencies could determine that the same rapist is

responsible for a series of assaults in several

different jurisdictions. As suspects are identified by investigators through DNA databanks,

investigators can redirect and narrow their

search for the perpetrator (16,17).

DNA testing provides crime labs and forensic

scientists a new tool that can be used for

investigatory purposes (e.g., identifying remains) that, in coordination with other types of

evidence, could lead to more arrests and convictions.
Chapter 4-DNA as Evidence . 101

Box 4-C-Case Study: Commonwealth of Virginia v. Spencer

The multiple murder trials in Virginia of Timothy W. Spencer were the first cases in the United States where

the admission of DNA evidence led to guilty verdicts resulting in a death penalty. Spencer was charged with the

rapes and murders by strangulation of four women from Richmond, Arlington County, and Chesterfield County.

A test performed by Lifecodes was introduced in the first trial, in Arlington, over the objection of defense

counsel. Defense attorney Jeffrey L. Everhart attacked the reliability of the test, arguing that the procedure was so

new that only a few States had allowed the results to be used in criminaltrials. One expert witness from Lifecodes

said that only 1 in 705 million people could be expected to have a pattern that would match Spencer’s DNA pattern

and the same pattern in the evidence. In July 1988, an Arlington jury convicted Spencer of capital murder and

recommended the death penalty.

At the opening arguments of Spencer’s second trial, in Richmond, Commonwealth’s Attorney Aubrey J. Davis

said the DNA left at the scene of the crime was Spencer’s: “He left his calling card at the residence of the victim.”

In November 1988, Spencer was found guilty and sentenced to death.

Spencer was subsequently convicted and sentenced to death a third and fourth time, in February and May 1989,

respectively.

In Virginia, death sentence convictions are automatically reviewed by the State Supreme Court. In June 1989,

the Virginia Supreme Court heard challenges to the DNA evidence. The arguments revealed that the defense had

found no expert witnesses to challenge the DNA evidence submitted by the prosecution. In September 1989, the

Court upheld the conviction of Spencer, declaring that the tests linking him to the crimes were scientifically reliable.

The U.S. Supreme Court refused to hear Spencer’s appeal, letting stand the Virginia high court decision.

SOURCES: OffIce of Technology Assessment 1990, based on A. Cooper, “DNA Case is First Before a State High CourL” National Law

JourI@ July 3, 1989:14; Spencer v. Virginia, 384 S.E.2d (Va., 1989).

Criticisms and Limitations of DNA Evidence hold inordinate weight with a jury, thus obscuring other evidence (43).

There are no disadvantages to the use of DNA . DNA evidence will not solve all crimes. Crime

typing for identification purposes per se. How- labs rely on a variety of methods in their

ever, several criticisms and limitations of this tech- investigations. DNA evidence, although increasnology have been expressed: ing in popularity, is often not as probative as

●

●

●

●

The development of DNA databanking poses

an invasion of civil liberties, particularly due

process (the taking of a sample without laying

a foundation of probable cause) and privacy

(since DNA can reveal more information than

identity alone) (6). Such considerations are

heard most frequently in regards to storing and

databanking DNA (see ch. 5).

Testing may involve the use of expert witnesses

from private companies whose primary goal is

to get into court first in order to achieve a

judicial imprimatur of acceptability (36).

DNA testing has been rushed into court without

agreement being reached in the scientific community regarding standards that ensure the reliability of the evidence and guidelines for the

interpretation of the results (24).

The probability of a sample having come from

any person other than the defendant can be so

infinitesimal, according to statistical data, as to

other types of physical evidence (25). As its use

becomes commonplace, however, its admission

could be expected by jurors even in cases where

such evidence is not available for a variety of

reasons.

. Many defendants will not be able to afford the

cost of rebutting State-introduced DNA testing.

Additional costs incurred in cases involving

DNA evidence include testing, expert witness,

and legal fees. If defendants cannot afford these

costs, the differences between defense and

prosecutorial resources, already large, could

increase further (21).

Pretrial Hearings: Offering and Rebutting

DNA Evidence

In order for evidence to be accepted into court, it

must be offered by one of the parties and be admitted

by the court. In most cases, questions regarding the

admissibility of evidence are handled at a pretrial

hearing. Pretrial hearings involving the admission of
102 ● Genetic Witness: Forensic Uses of DNA Tests

 1,( 11,) 

Photo credit: 

Sample report and criminal case.
Chapter 4-DNA as Evidence ● 103

scientific evidence are often known as Frye hearings

(after the standard described earlier in this chapter).

By holding a pretrial evidentiary hearing, the court

can settle issues relating to whether to admit the

evidence into court, thus sparing the jury from the

time-consuming issues that can be raised regarding

admissibility. Courts are likely to look at several

Soundness of the Underlying Scientific Principle

The scientfic community agrees that each individual’s DNA is unique, except for identical twins, and

that it is theoretically possible to identy individuals

from their unique DNA patterns. Because the under- — .

factors: soundness of the underlying scientific prin- lying scientific theory is generally accepted (see ch.

ciple, reliability of DNA tests, statistical evidence, 3), the next level of inquiry relates to reliability of

relevant statutes, and case law. the tests (5).

Box 4-D--Case Study: People of New York v. Castro

The most heralded challenge against DNA typing to date is the New York case of People v, Castro. Jose Castro$

a 38-year-old Hispanic, stood accused of murdering his neighbor Vilma Ponce and her 2-year-old daughter. Both

victims were stabbed to death in their Bronx apartment building. A small bloodstain on Castro’s watch was analyzed

by Lifecodes Corp., which in its July 1987 forensic report determined with three DNA probes that the DNA pattern

from the blood of Ponce matched that on the watch. The frequency, with the three probes, of these patterns in the

Hispanic population was determined to be approximately 1 in 100 million.

A pretrial evidentiary hearing lasted 12 weeks and amassed 5,000 pages of testimony, much of it in the form

of expert testimony. In an unusual move, four of the expert witnesses-representing both the prosecution and

defense-met to review the scientific evidence after they had already testified. The result of this meeting was a

two-page consensus statement that addressed the inadequacy of the scientific evidence and the legal procedures for

assessing scientific evidence. Although the statement itself was not accepted as evidence in the pretrial hearing, the

substance of the consensus document was introduced by the defense’s recall of two prosecution expert witnesses

to testify on its substance.

In August 1989, Judge Gerald Sheindlin issued a 41-page decision on the admissibility of the DNA

identification tests. Noting that New York followed the Frye standard for admitting novel scientific evidence, a

three-pronged test was advanced to determine whether the evidence should be admitted:

. Is there a theory, which is generally accepted by the scientific community, that supports the conclusion that

DNA forensic testing can produce reliable results?

. Do techniques or experiments currently exist that are capable of producing reliable results in DNA

identification and that are generally accepted in the scientific community?

. Did the testing laboratory perform the accepted scientific techniques in analyzing the forensic samples in

this particular case?

Answering the first point, the court found that ‘the evidence in this case clearly establishes unanimity amongst

all the scientists that DNA identification is capable of producing reliable results.” On the second point, the court

noted that the techniques and experiments performed are not themselves novel or recently discovered, and are indeed

reliable. Hence, the court concluded “that DNA forensic identification evidence meets the Frye standard. ”

The court relied on the third question-the application of the scientific techniques to the particular case-in

order to include certain DNA evidence and to exclude other DNA evidence. The DNA identification evidence of

exclusion was deemed admissible, since the testing laboratory did substantially perform the scientifically accepted

tests and thereby obtain sufficiently reliable results. However, the DNA identification evidence of inclusion was

deemed inadmissible, since the testing laboratory failed in several major respects to use generally accepted scientific

techniques and experiments for obtaining reliable results within a reasonable degree of certainty.

As a result, the DNA tests could be used to show that the blood found on Castro’s wristwatch was not his, but

tests purporting to show the blood was that of the victim could not be used. Judge Sheindlin also enunciated a set

of guidelines for DNA pretrial hearings in the future.

Castro’s case was never tried He pleaded guilty to the murders in late 1989.

SOURCES: “Decisionont heAdmissibility of DNAIdentification Tests,’ Supreme Court of the State of New Yorlq County of Bronx: Crimimd

Term Part 28, People v. Castro, Indictment No. 1508/87; R. Le~ “DNA Typing on the Witness Stand,” Science, 244:1033.
104 ● Genetic Witness: Forensic Uses of DNA Tests

Figure 4-l-Sources of DNA Evidence

SOURCE: Office of Technology Assessment, 1990.

Reliability of DNA Tests

Although there is consensus regarding the uniqueness of each individual’s DNA and the ability to type

an individual’s DNA for identification purposes,

debate still exists regarding experimental verificationcation (i.e., the presence of adequate population data),

the reliability of different laboratories’ testing and

analytical protocols, the error ratio of tests that are

performed, and the quality control of laboratories

performing the tests (see ch. 3). Where serious

doubts are raised about the reliability of a specific

test result, inadmissibility can occur. To date, one

State Supreme Court has overturned the use of DNA

testing in one instance on the grounds of reliability

(bOX 4-E).

DNA testing is complex, requiring a complicated

series of procedures that must be carefully performed and analyzed by skilled personnel (see ch. 3).

In evaluating scientific reliability, courts generally

look to expert testimony from relevant scientific

communities, scientific writings, and judicial opinions from other jurisdictions. Expert testimony is

generally required because most judges and juries

cannot independently assess the reliability of DNA

tests. Expert testimony is likely to come from two

sources:

● the laboratory that performed the DNA test; and

. scientists from the academic community who

are familiar with the test but not financially

involved with the lab conducting the test, and

who can provide expert assistance on particular

problems such as statistical frequencies.

If the court employs the Frye standard, individuals

specializing in molecular biology and genetics will

typically be called on to testify Scientists with

relevant experience in certain specialized areas may

also be appropriate if the issue focuses on dirty or

degraded samples (which might require testimony

on, e.g., environmental biology or physical anthropology), or on statistical probabilities (which involves,

e.g., population genetics, evolutionary biology, and

statistics) (42). It is at this stage-the pretrial hearing—

that many aspects regarding reliability can be investigated and challenged, such as procedures and the

credentials of personnel.

Statistical Evidence

According to the judge in the first DNA rape case

in the United States (38), the most troublesome

problem of admissibility involved how to express to
Chapter 4-DNA as Evidence ● 105

Box 4-E-Case Study: State of Minnesota v. Schwartz

In November 1989, the Minnesota Supreme Court was faced with the issue of whether to admit DNA testing

in the case of Thomas Schwartz, who was charged with first-degree murder arising nom the stabbing death of a

Minneapolis woman.

The Court ruled the test results inadmissible, even though it found DNA testing to be admissible under

Minnesota’s Frye standard if performed in accordance with appropriate standards and controls. In rejecting the test

results, the Court focused on severaI issues, including reliability of the test results:

While we agree that DNA typing is generally acceptable, we nevertheless believe reliability of the test results is

crucial.

Reliability is particularly important in criminal proceedings because a suspect may face the loss of liberty due to DNA

identification. The experts acknowledged that DNA testing could produce a “false negative,” where a match between DNA

prints is not declaredwhen one in fact exists. Contradictory expert testimony was offered on whether a “false positive,”

where the wrong individual is identified as the contributor of the DNA sample, could result. We are troubled by the fact

that Cellmark admitted having “falsely identified two samples as coming from the same subject” during a proficiency test

performed by the California Association of Crime Laboratory Directors (CACLD).

Out of 44 total samples, Cellmark made one incorrect match, which was considered too high an error rate by some

experts. The possibility of ambiguous match conclusions is also disturbing. For example, the Cellmark report opined that

the DNA from the [victim’s stained blue jeans and blood] “are from the same individual,” even though the banding patterns

did not fit their match criteria. As a direct corollary, specific DNA test results are only as reliable and accurate as testing

procedures used by the particular laboratory. . . .

Although Cellmark has implemented protocols and certain quality control standards, deficiencies in several aspects

exist . . . The director of Cellmark's Development Laboratory . . . admitted that because Cellmark did not meet all the

minimum guidelines, such as formal methodology validation and published reports of experimental studies in peer review

journals, the FBI likely would not consider the test ready for use in court. The experts also reviewed similar standards for

DNA typing developed by CACLD. Again.. . Cellmark has not comported with all these standards.

SOURCE: Stufe of A4innesoaa v. Schwurtz, majority opinion of Chief Justice Popovic& Supreme Court of Minneso@ 447 N.W.2d 422 (M.inn.,

1989).

the jury the statistical probability of the results from by action of the Minnesota legislature in 1989 (see

the DNA test (33). ‘Experts introduce statistical

evidence to show that only a tiny fraction of a

population possesses the suspect’s characteristics.

Such statistical evidence is not unique to DNA

typing but has, in fact, been used with standard body

fluid genetic typing for decades. However, because

statistical probabilities introduced in DNA cases are

extremely small (sometimes one in billions) and are

generally presented-or at least perceived—as an

absolute identification, courts must decide if numbers that are introduced can be understood by juries.

Courts generally admit probability calculations

based on the empirical sampling of population

frequencies of a particular biological characteristic

(5), but courts in Minnesota had barred such testimony since it could suggest, by quantification, guilt

beyond a reasonable doubt (39,40,41). In such cases,

the evidence could be admitted to draw an inference

(e.g., scientific evidence that the defendant was the

father of a baby that was subsequently born to the

victim can be admissible to prove that sexual intercourse occurred), but it could not take the form of a

statistical probability. These cases were overturned

box 4-F).

Prior to the action taken by the Minnesota legislature, the defense attorney in the Nation’s first DNA

rape case (38) cited the Minnesota cases as support

for excluding statistical data, an argument that was

rejected by the trial court and addressed only briefly

on appeal (1,43). In the first trial of Tommie Lee

Andrews, statistical evidence was not admitted following defense objection. The case ended in a

mistrial. On retrial, the statistical data were offered

and ruled admissible, and the jury convicted Andrews. Both the prosecutor and defense attorney

agreed that the statistical evidence was key to the

second jury’s finding of guilt (3,43).

The reliability of statistical evidence is a primary

concern to one observer, who notes that:

Despite . . . fundamental uncertainties, forensic

laboratories blithely cite breathtaking frequencies: a

recent report based on the study of only four RFLPs

[restriction fragment length polymorphisms] announced that the chance of an alleged match occurring at random was 1 in 738,000,000,000,000.
106 . Genetic Witness: Forensic Uses of DNA Tests

Photo credit: Corp.

Sample chain of custody form.
Chapter 4-DNA as Evidence . 107

Box4-F-State Statutes: Admissibility of DNA

Evidence

Several States have passed laws regarding the

collection of DNA samples (see ch. 5). As of

January 1990, four States have laws specifically

addressing the admissibility of DNA test results:

. Maryland in 1989 enacted legislation (House

Bill No. 711) making DNA profile evidence

automatically admissible to prove or disprove

the identity of any person.

. Mjnnesota in 1989 enacted a crime bill (Ch.

290, H.F. No. 59) permitting the admissibility

of DNA analysis in criminal and civil cases

without antecedent expert testimony that DNA

analysis provides a trustworthy and reliable

method of identifying characteristics in an

individual’s genetic material. The party offering the evidence must show that it meets the

general standards of admissibility under the

State’s rules of evidence. The same bill also

allows the admission of statistical population

frequency evidence, based on genetic or blood

test results, to demonstrate the fraction of the

population that would have the same combination of genetic markers (various blood types or

DNA types) as was found in a specific human

biological specimen.

● Louisiana has adopteda statute(1989 LaRev.Stat.,

sec. 15.441.1) holding that “evidence of deoxyribonucleic acid profiles, genetic markers of

the blood, and secretor status of the saliva

offered to establish the identity of the offender

of any crime is relevant as proof in conformity

with the Louisana Code of Evidence. ”

. Nevada law states that ‘‘whenever it it relevant in a civil or criminal action to determine

the parentage or identity of any person or

corpse, the court, by order, may direct. . . one

or more blood or saliva tests . . . [that] may

include analysis of a person’s blood to determine its genetic markers and of a person’s

saliva to determine its secretor status. Whenever a test is ordered and made, the results of

the test may be received in evidence” (1989

Nev.Rev.Stat.Ann., sec. 56.020 (1)(2)).

SOURCE: OffIce of Technology Assessment 1990.

It is my belief that we, the scientific community,

have failed to set rigorous standards to which courts,

attorneys and forensic testing laboratories can look

for guidance-with the result that some of the

conclusions presented to courts are quite unreliable

(24).

Some argue that the admission of statistical information to the nth degree is pivotal to the success of

DNA testing in forensic applications. Others strongly

disagree, maintaining that even low statistical evidence in combination with other facts is sufficient

for an attorney to persuade a jury.

Relevant Statutes

Some States have passed laws specifically governing the admissibility of certain scientific techniques (generally radar detection, blood tests, and

intoxication tests). Several States have statutes

regarding the taking of DNA samples from certain classes of defendants (see ch. 5) and four

States have laws regarding the admissibility of

DNA evidence itself as of January 1990 (box 4-F).

Case Law

Although many trial courts have ruled DNA

evidence admissible, as of January 1990, only five

appellate-level courts have addressed the relevant issues on review (box 4-G). As more appellate

courts review and rule on DNA evidence, a foundation of law on the subject will emerge and can be

cited.

DNA Evidence at Trial

Following the pretrial Frye or evidentiary hearing,

a court rules whether DNA testing will be admitted

into evidence and, if so, under what conditions. Once

at trial, any party may offer expert testimony. It is the

obligation of the party calling expert witnesses to lay

the foundation for such testimony. Such a foundation will normally include the qualifications and

experience of the witness, details as to how DNA

testing works, what procedures were followed, the

results of the test, and the facts and opinions that can

be drawn from the test results. During crossexamination, the opposing party can seek to limit the

weight of the expert testimony. Such tactics include

limiting the credibility of the opponent’s expert.

Effective trial strategy can increase or limit the

weight of expert testimony. Several recent articles

on the admissibility and weight of DNA testing

indicate that this area will be the subject of scholarly

attention in the near future (5,7,26,42).

FINDINGS AND SUMMARY

DNA testing is the latest in a number of scientific

techniques designed to identify individuals. Compared with other genetic techniques, DNA testing is
108 ● Genetic Witness: Forensic Uses of DNA Tests

Box 4-G-Appelate Court Reviews of DNA Testing

Andrews v. State of Florida 533 So.2d 841, District Court of Appeal of Florida, Fifth District

The Andrew case (see also box 4-A) was the first appellate-level decision of a case challenging the

admissibility of DNA testing. The District Court of Appeal upheId the admissibility of the DNA test, ruling that

when a form of scientific expertise has no established track record in litigation, courts may look to a variety of factors

that may bear on the reliability of the evidence, such as its relationship to more established modes of scientific

analysis, the existence of specialized literature dealing with the technique, the qualifications and profossional stature

of expert witnesses, and any nonjudicial uses of the scientific technique.

T&opinion noted:

Admittedly, the scientific evidence here, unlike that presented with fingerprint, footprint or bite mark evidence, is

highly technical, incapable of observation and requires the jury to either acceptor reject the scientist’s conclusion that it

can be done. While this factor requires courts to proceed with special caution . . . it does not of itself render the evidence

unreliable.

Cobey v. State of Maryland: 559 A.2d 391, Maryland Court of Special Appeals

Kenneth Cobey was convicted of rape, sexual offense, robbery, and theft. He appealed, arguing that the

single-locus probe technique employed by Cellmark Diagnostics had not been aocepted by the scientific

community, the database used by Cellmark was insufficient to support the conclusions drawn by it, and the State

violated the Fourth Amendment to the U.S. Constitution when it failed to obtain a search warrant prior to drawing

a blood sample from him.

In the opinion of the Court of Special Appeals, the trial court did not err in admitting the evidence, which was

supported by expert testimony by the State, while the defendant produced no expert testimony challenging the probe

or database. In finding that the State’s Frye test requirements were met, the court held that “we are not, at this

juncture, holding that DNA fingerprinting is now admissible willy-nilly in all criminal trials . . . .We are merely

holding that, based on this record, [the trial judge] did not err in finding that DNA fingerprinting was generally

acceptable in the scientific community and in permitting its introduction into evidence, since there was no evidence

to the contrary.”

Woodall v. State of West Virginia: 385 S.E.2d 253, Supreme Court of Appeals of West Virginia

Woodall, serving two life terms and 335 years in prison on 19 criminal counts stemming from the kidnap and

rape of two women, had been rebuffed in his attempts to use DNA testing to prove his innocence. The West Virginia

Supreme Court in December 1988 approved Woodall’s motion to use DNA testing. The tests, conducted by

Cellmark, proved inconclusive due to insufficient amounts of high molecular weight DNA in semen recovered from

the crime scenes. As a result, no conclusion could be reached concerning the origin of the DNA in the samples.

The West Virginia Supreme Court, holding that such testing did meet West Virginia’s Frye standard, refused

Woodall's petition for anew trial, saying that the test’s inconclusive (and thus irrelevant) results rendered harmless

any decision not to admit the test at trial.

Spencer v. Commonwealth of Virginia: 384 S.E.2d 775,384 S.13.2d 785, Supreme Court of Virginia

In three unanimous rulings, the Virginia Supreme Court upheld the capital conviction of Timothy Spencer,

ruling that submitted DNA test results submitted as evidence at two of Spenser’s trials were shown to be ‘a reliable

scientific technique” (see also box 4-B).

State of Minnesota v. Schwartz: 447 N.W.2d 422, Supreme Court of Minnesota

In November 1989, the Minnesota Supreme Court barred the use of DNA evidence in a Minneapolis murder

trial scheduled to commence in early 1990. The court ruled that forensic DNA typing had gained general acceptance

in the scientific community and thus was admissible under the Frye standard. Admissibility in the present case,

however, was denied on grounds that Cellmark tests failed to conform to certain reliability standards (see also box

4-E). The court also ruled that such test data must be made available for independent review by the opposing party.

SOURCE: (Mice of Technology Assessment 1990.
Chapter 4-DNA as Evidence ● 109

capable of statistically absolute identification (except with identical twins). As with any type of

scientific evidence, it must meet certain requirements before it can be introduced into court as

evidence.

Two standards-the Frye test and the relevancy

test—govern the admission of scientific evidence.

The Frye test permits the admission of scientific

evidence based on novel scientific techniques only

when the technique has gained general acceptance in

the scientific community, The relevancy test, based

on the Federal Rules of Evidence, permits the

admission of relevant evidence that is helpful to the

trier-of-fact.

As of January 1990, DNA testing had been used

in criminal investigatory work in at least 45 States

and the District of Columbia, and had been admitted

by crimin al courts in 38 States. All reported investigations and cases involved suspected crimes of

violence (i.e., homicides or sexual assaults). As of

January 1990, the three major companies using

DNA testing and the FBI had provided expert

testimony in 216 cases. Court cases-all of which

have been filed since 1986-indicate that DNA

evidence is generally accepted by the scientific

community (in cases employing the Frye standard

for admissibility) and relevant and helpful to judges

and juries (in those cases employing the Federal

Rules of Evidence model for admissibility). Appellate-level courts in five States have addressed the

admissibility of DNA typing, with four of the courts

approving the admissibility of such evidence. Four

States have laws permitting the admission of DNA

tests in judicial proceedings as of January 1990.

Because each person’s genetic material is unique

(except between identical twins), DNA testing offers

the criminal justice system a more precise and

powerful means of identification from a trace amount

of biological material. Such evidence could be most

useful in cases where eyewitness identification is

faulty or nonexistent (e.g., rape) and could save

courts time, as suspects are exonerated or confronted

with such evidence. Such evidence can be obtained

from any DNA-containing source and, because of its

stable and robust nature, is more likely to provide

usable data than enzymes and proteins used in

traditional serological examinations.

Several concerns have been expressed regarding

DNA as evidence, including the weight of statistical

data, the lack of standards to ensure the reliability of

the evidence, the potential bias of expert witnesses

whose livelihood depends on the success of the

technology, civil liberties considerations related to

databanking of DNA information, and the financial

costs defendants face in rebutting such evidence.

CHAPTER 4 REFERENCES

1.

2.

3.

4.

5.

6.

7.

8.

9.

10.

11.

12.

13.

14.

15.

16.

17.

Andrews v. State of Florida, 533 So.2d 841 (D.C.A.

F1. 1989).

Ashton, J.L., Assistant State’s Attorney, Orange

County, Orlando, FL, testimony before U.S. House

of Representatives, Subcommittee on Civil and Constitutional Rights, Committee on the Judiciary, Mar. 22,

1989.

Ashton, J.L., Assistant State’s Attorney, Orange

County, Orlando, FL, personal communication, May

1989.

Balazs, L, Lifecodes Corp., Vilhalla, NY, personal

communication, April 1989.

Beeler, L., and Wiebe, W.R., “DNA Identification

Tests and the Courts,” Washington Law Review

63:903-955, 1988.

Bereano, P.L., Professor, Engineering and Social

Policy, University of Washington, testimony before

U.S. House of Representatives, Subcommittee on

Civil and Constitutional Rights, Committee on the

Judiciary, Mar. 22, 1989.

Burk, D.L., “DNA Fingerprinting: Possibilities and

Pitfalls of a New Technique,” Jurimetrics, Summer

1988, p. 455.

Cobey v. State of Maryland, 559 A.2d 391 (Md.Ct.

Sp.App. 1989).

Dean, R.L., Assistant State’s Attorney, Montgomery

County, MD, personal communication, May 1989.

Estelle v. Smith, 451 U.S. 454 (1981).

Frye v. United States, 293 F. 1013 (D.C. Cir. 1923).

Gaudette, B.D., Central Forensic Laboratory, Royal

Canadian Mounted Police, Ottawa, Ontario, Canada,

personal communication, August 1989.

Giannelli, P. C., “The Admissibility of Novel Scientific Evidence: Frye v. United States, a HalfCentury Later,” Columbia Law Review 80:1198,

1980.

Giannelli, P. C., and Imwinkelried, E.J., Scientific

Evidence (Charlottesville, VA: The Michie Co.,

1986).

Harmon, R.P., Alameda County District Attorney’s

Office, Oakland, CA, personal communication, August 1989.

Hicks, J. W., Federal Bureau of Investigation, testimony before U.S. House of Representatives, Subcommittee on Civil and Constitutional Rights, Committee on the Judiciary, Mar. 22, 1989.

Hicks, J. W., Federal Bureau of Investigation, “Conference Summary,” International Symposium on the
110 ● Genetic Witness: Forensic Uses of DNA Tests

18,

19,

20.

21,

22.

23.

24.

25,

26.

27.

28,

29,

30.

31.

32.

Forensic Aspects of DNA Analysis, Quantico, VA,

June 23, 1989.

Hicks, J.W., Federal Bureau of Investigation, Washington, DC, personal communication, August 1989.

Imwinkelried, E.J., School of Law, University of

California, Davis, Davis, CA, personal communication, July 1989.

In re Fisher’s Estate, 279P. 291,293 (Id. 1929).

Jonakait, R.N., New York Law School, New York

NY, personal communication, August 1989.

Kearney, J., Federal Bureau of Investigation, Quantico, VA, personal communication, April 1989.

Kirby v. Illinois, 406 U.S. 682 (1972).

Lander, E. S., “DNA Fingerprinting on Trial,” Nature 339:501-505, 1989.

Lee, H. C., Connecticut State Police, Forensic Science

Laboratory, Meriden, CT, personal communication,

April, 1989.

Long, R. R., “The DNA ‘Fingerprint’: A Guide to

Admissibility,” The Army Lawyer 36, October 1988.

Mapp v. Ohio, 367 U.S. 643 (1961).

Mauet, T. A., Fundamentals of Trial Techniques

(Boston, MA: Little, Brown & Co., 1980).

McCormick on Evidence, 2nd ed. (St. Paul, MN:

West Publishing Co., 1978).

Moenssens, A. A., Inbau, F.E., and Starrs, J.E., Scientific Evidence in Criminal Cases, 3rd ed. (Mineola,

NY: The Foundation Press, Inc., 1986).

People v. Barbara, 400 Mich. 352,255 N.W.2d 171,

1977.

People v. King, 72 Cal. Rptr. 478, 1968.

33.

34.

35.

36.

37.

38.

39.

40.

41.

42.

43.

44.

Powell, R.W., Circuit Court Judge, Orange County,

Orlando, FL, personal communication, May 1989.

Rothstein, P.F., Federal Rules of Evidence, 2nd ed.

(New York, NY: Clark Boardman Co., 1979).

Rules of Evidence Advisory Committee, Judicial

Conference of the United States, “Rules as Approved

by the U.S. Supreme Court,” 1972.

Scheck B., Professor of Law, Benjamin Cardozo

School of Law, testimony before U.S. House of

Representatives, Subcommittee on Civil and Constitutional Rights, Committee on the Judiciary, Mar. 22,

1989.

Schmerber v. California, 338 U.S. 757 (1966).

State of Florida v. Andrews, CR87-1400, Circuit

Court, 9th Judicial Circuit, Criminal Justice Division,

Orange County Florida, 1987; appeal at 533 So.2d

841 (D. C.A.F1. 1989).

State of Minnesota v. Boyd, 331 N.W.2d 480 (Minn.

1983).

State of Minnesota v. Carlson, 267 N.W.2d 170

(Minn. 1978).

State of Minnesota v. Kim, 398 N.W.2d 544 Minn.

1987).

Thompson, W. C., and Ford, S., “DNA Typing:

Acceptance and Weight of the New Genetic Identification Tests,” Virginia Law Review 75:45-108,

1989.

Uhrig, H. G., Winter Park, FL, personal communication, May 1989.

Wigmore on Evidence (Chadbourne rev. 1978).
Chapter 5

Computer Technology and

Informational Privacy

“Just the mention of one name can clarify the need for the nationwide exchange of criminal history data

including DNA information: Ted Bundy, recently executed killer whose heinous crimes spanned the nation.’

William S. Sessions, Director

Federal Bureau of Investigation

Feb. 20,1989

“Experience should teach us to be most on our guard when the govermnent’s purposes are beneficent. Men

born to freedom are naturally alert to repel invasion of their liberty by evil-minded rulers. The greatest dangers

to liberty lurk in insidious encroachment by men of zeal, well-meaning, but without understanding.’

Olmstead V. U.S. 277

Justice Brandeis

Dissenting Opinion

U.S. 438,479 (1928)
CONTENTS

Page

CURRENT COMPUTER APPLICATIONS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 114

Restriction Fragment Length Polymorphism Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 114

Computers and Polymerase Chain Reaction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 117

Computers in Court: Cost-effectiveness . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 118

DATABASE CONSIDERATIONS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .120

Types of Databanks . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . 120

Technical Considerations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +. 124

Database Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .125

DATABANKS AND INFORMATIONAL PRIVACY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 128

Who Will Be Tested? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 129

What Do the Tests Reveal? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131

How Will DNA Information Be Stored? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 132

Who Will Have Access to DNA Information? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133

Investigatory Use of Population Statistics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 134

FINDINGS AND SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 136

CHAPTER 5 REFERENCES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .136

Boxes

Page

5-A. Automated Fingerprint Identification Systems . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1141

5-B. The Social Security Number a sa National ldentifier . . . . . . . . . . . . . . . . . . . . . . . . . . 115

5-C. Existing Storehouses of Genetic Information . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121

5-D. Newborn DNA Typing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131

5-E. The Leicester Case: DNA’s Criminal Debut . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135

Figures

Page

5-1. DNA Sizing Portrayed Through Autoradiography . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 116

5-2. Autoradiography :The Importance of X-ray Film Exposure . . . . . . . . . . . . . . . . . . . 117

5-3. Semiautomated Analysis of DNA Autoradiogram . . . . . . . . . . . . . . . . . . . . . . . . . . . . 118

5-4. Description of the FBI’s Computerized DNA Analysis System . . . . . . . . . . . . . . . . 119

5-5. DNA Variation Among Population Groups . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 122

5-6. DNA Typing: Reported Uses and DNA Databank Legislation by State . . . . . . . . . . 123

5-7. Proposed Data Files: Who Will Maintain Them? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 127

5-8. How a Database of DNA Information Could Be Created and Used . . . . . . . . . . . . . . 130
Chapter 5

Computer Technology and Informational Privacy

Computer technologies enhance the ability of

Federal, State, and local agencies to uncover wrongdoing at many levels: Entitlement program administrators use computer matching to catch people who

abuse welfare, the Internal Revenue Service compares individual returns with information provided

by banks to discover where taxes on interest have

been underpaid, and the automated fingerprint

identification system (box 5-A) has revolutionized

the ability ofcriminal investigators to identify

suspects within and across jurisdictional boundaries.

Applications of these computer systems raise

issues of informational privacy. Linkage of information in a variety of public and private sources is

creating a de facto national database containing

information on most Americans (53). (The term de

facto is used to distinguish the database from one

created by law, i.e.,a de jure national database.)

Social security numbers (SSN) often link these

databases, and the SSN has become a national

electronic identifier (box 5-B) even though some

attempts have been made to control its use. Use or

misuse of personal information collected in electronic databases can affect an individual’s ability to

obtain employment, credit, insurance, and other

services and benefits (e.g., housing or Aid to

Families With Dependent Children).

Federal, State, and local criminal justice agencies

now express considerable interest in using computer

technologies to improve their abilities to analyze and

share the results of DNA tests. Advanced image

analysis technologies, which combine the attributes

of video and computational machines, coupled with

databases compiled from test results, can meet the

needs of forensic scientists using DNA typing to:

● generate population statistics,

. aid the technician in the identification of band

position, and

● compare the results of different tests.

When experts use DNA tests to confirm the

identity of a child’s parent or to confirm that a

suspect is the source of crime scene evidence, they

declare a match or nonmatch between DNA specimens. In the case of a match, they also express the

probability of such a match occurring at random.

These probability calculations are based on population statistics derived from multiple tests on multiple

. ..

DNA samples. Computers help derive and maintain

these statistics.

Computers also help scientists analyze DNA test

results by both speeding the process and employing

computational tools to augment the power of the

human eye. Computer-assisted analysis of restriction fragment length polymorphism (RFLP) tests is

possible using existing technology and is underway

at laboratories currently involved in testing. Computerization may become more common in certain

analyses of DNA amplified by polymerase chain

reaction (PCR) (see chs. 2 and 3).

The law enforcement community maintains fingerprint files and books of mug shots to assist the

identification of repeat offenders. If DNA tests were

standardized and results computerized, they might

be used in a similar fashion. Databases that would

permit rapid, electronic comparison of DNA results

from tests on different samples have been proposed,

but they remain in the preliminary stages of development.

The possible formation of a national DNA database evokes several concerns about privacy. Because DNA is unique and so highly personal, some

are reluctant to see it become part of the de facto

national database. Others fear that testing will not be

limited to identity but will expand to include

proclivity toward disease or behavioral characteristics, which could then be incorporated in the

database. Some believe it to be an inappropriate use

of government authority to collect and store such

sensitive, personal information. In addition, there

are concerns about data security and about the

quality and reliability of the information stored

(8,18).

This chapter summarizes existing and developing

applications of computer technology to forensic uses

of DNA tests. Tools used by commercial laboratories and the Federal Bureau of Investigation (FBI)

are examined, as are spinoff technologies from the

Human Genome Mapping Project. The chapter also

looks at technical considerations regarding widespread application of a new technology (e.g., costeffectiveness and standardization requirements). The

ability to create and secure databanks is addressed

(though these issues are covered more thoroughly in

previous OTA documents, see refs. 51-54), and

–113–
114 ● Genetic Witness: Forensic Uses of DNA Tests

Box 5-A—Automated Fingerprint Identification Systems

Automated fingerprint identification systems (AFIS) have revolutionized fingerprint identification technology. A 3-minute scan of millions of prints in a master file helped police identify the man recently convicted in the

California “Night Stalker” case, involving 14 homicides and at least 21 assaults. A 6-minute AFIS search, after

8 years of manual searching, led to identification of a suspect in a San Francisco murder case who pled guilty to

first-degree murder after being confronted with the fingerprint evidence.

AFIS technology uses a computer to scan and digitize fingerprints, translating the unique ridge patterns and

minutiae of the prints into a binary code for the computer’s searching algorithm. In a matter of minutes, an AFIS

computer can compare a new fingerprint with vast files of prints and make identifications that previously were

possible only through a time-consuming and error-prone process of manual comparison.

This technology has greatly increased the speed and accuracy of fingerprint processing and has made it possible

to conduct “cold searches” (i.e., a search where there are no suspects or other identifying information other than

the crime scene prints) against very large fingerprint files. The search time in a file of about 500,000 prints ranges

from a half-hour to a matter of minutes.

AFIS technology also permits the digitized fingerprint images to be stored on an optical disk and retrieved later.

The current crime scene prints can be visually compared on the computer screen with retrieved images of the

candidate file prints.

One AFIS computer cannot search the files of a different manufacturer’s AFIS computer, but this presents only

a minor problem. All one AFIS computer needs from another computer is digitized fingerprint image data to make

its own search. Facsimile transmission is used to send fingerprint images from remote sites to the AFIS computer.

The facsimile prints must be of high quality to substitute for the inked impressions in the AFIS, but this quality is

increasingly available.

Linked photographic and telecommunications technologies are also being used to lift and transmit prints to

an AFIS. The use of a remote television camera linked to telecommunications lines is under trial. A device attached

to the camera converts the photographic image into digital data and sends the information via modem directly from

the crime scene to an AFIS computer at the State central repository, allowing virtually instantaneous processing.

As fingerprint matching becomes a more powerful tool of criminal identification and as matching from large

files becomes faster and easier, there will be increasing pressure to expand the search capability of law enforcement

agencies. For instance, government employees, military personnel, and juveniles are routinely fingerprinted for

reasons having nothing to do with crime. Controversy is likely to develop over whether fingerprints that were

collected for noncriminal justice purposes should be included in files that can be searched by law enforcement

agencies. Congress or the courts are likely to be asked to decide whether this new use violates the constitutional

right to privacy.

SOURCES: OffIce of Technology Assessmen 41990, basedon OffIce of Technology Assessmen~ Crinu”nalJustice, New Technologies, and the

constitution, OTA-CIT-366 (Washington DC: U.S. Government Printing Office, May 1988); Bureau of Justice Assistance,

Plawu”ng for Automated Ilnge@m Identijkation Systems (AFIS) Implementation (Washingto~ DC: U.S. Department of Justice,

1988).

arguments concerning the potential usefulness and and local laboratories in tandem with DNA testing

possible misuse of DNA databanks are explored.

CURRENT COMPUTER

APPLICATIONS

Many crime laboratories currently use sophisticated electronic equipment to perform laboratory

tasks, particularly analysis of blood for alcohol or

drug content. Private and Federal laboratories engaged in DNA testing have begun to introduce

computers into this new area of forensic science as

well. Thus computer analysis will likely enter State

procedures.

Restriction Fragment Length

Polymorphism Analysis

Forensic science laboratories performing DNA

tests predominantly use the RFLP methodology.

Computer technology in use and under development

provides tools for interpreting test results. The

ultimate information to be analyzed is usually a

piece of x-ray film that depicts a part of an

individual’s genetic code as a banding or stripe-like

pattern.
Chapter 5-Computer Technology and Informatiornal Privacy ● 115

Box 5-B—The Social Security Number as a National Identifier

Originally intended for use as an accounting device for contributions to the social security system, the social

security number (SSN) has since been appropriated for use in maintaining the records of numerous government and

private programs. Prevalent use of the SSN for non-social-security purposes raises concerns regarding its potential

for misuse and abuse. It is argued, for example, that the increased use of the SSN as an identifier, coupled with

rapidly advancing computer technology, has created a de facto national databank of information on each individual.

The Social Security Act (49 Stat. 620, Aug. 14, 1935) did not expressly mention the use of the SSN, but it

authorized a recordkeeping scheme. Use of the SSN as a Federal Government identifier is based on Executive Order

9397 (8 FR 16095-16097; 3 CFR 1943-1943 Comp. 283-284 (1943)), issued by Franklin Roosevelt. In 1962, the

Internal Revenue Service adopted the SSN as its official taxpayer identification number, and only then did its use

become widespread

Citing possible harm to individual privacy through misuse of information systems, Congress established a

Federal policy limiting compulsory divulgence of the SSN in the Privacy Act of 1974 (Public Law 93-579,88 Stat.

18%, codified at 5 U.S.C. 552a). This act prohibits a local, State, or Federal agency from requiring an individual’s

SSN as a condition of receiving services or benefits, unless the use is authorized by law. The efficacy of that

prohibition is subject to question, however, Congress has subsequently not only authorized the use of the SSN, but

mandated it. For instance, the 1986 Tax Reform Act requires that all children over the age of 2 claimed as dependents

on tax returns have an SSN.

Currently, several public and private activities or organizations require an SSN as an identifer or authenticator,

including:

. the National Crime Information Center;

. the U.S. Department of Transportation’s National Driver’s Register;

● driver’s licensing in most States;

● educational recordkeeping, including student admissions;

. hunting or fishing licensing;

● credit checking;

● employee recordkeeping;

. obtaining a library card;

. giving blood;

.joining the Chanber of Commerce;

● enrolling in a health plan; and

. getting a telephone.

All these uses are within the law, though certainly not anticipated when the social security system was devised.

Since the SSN has become a de facto national identifier, concerns about making it tamper-proof (e.g.,

controlling theft or forgery of numbers) have grown. Those who seek an immutable, unique identifier may look to

a numerical reduction of an individual’s genetic code, such as would be contained in the FBI’s proposed

investigatory databases, as a replacement for the SSN.

SOURCES: Off3ce of Technology Assessment, 1990, based on Congressional Reseath Service, The Social Security Number: Its Historical

&veioptnentandtiga!Restn”ctions onlts Use (Washingto~IX2 Library of Congress, 1985); 3. Berman and I. Gol_AFet%md

Rig~tofZnfor?nation Privacy: TheNeedfOrR#orm, 3?rojectonCommunioation and InfonnationPolicy Options, No. 4 (WasMngto%

DC: Benton Foundatio~ 1989).

Readability of x-ray films varies from case to gel can diminish the distinctness of banding patterns

case. Electrophoresis as currently practiced is an and produce artifacts that can be misleading or

imperfect process (see chs. 2 and 3). Inconsistencies misinterpreted. Over- or under-exposure of the x-ray

in gel composition or variations in the electric field film can decrease its legibility (figures 5-1 and 5-2).

can cause a gel to “smile,‘‘ i.e., create contortions in In the absence of a computer, scientists reading an

the lanes of DNA. Foreign matter in the DNA x-ray film must visually estimate band location or

sample (from the restriction enzymes or the original use a ruler-two methods that are subject to fairly

forensic material, for instance) or impurities in the large discrepancies from analyst to analyst.
116 . Genetic Witness: Forensic Uses of DNA Tests

Figure 5-l—DNA Sizing Portrayed

Through Autoradiography

An artifact from the process, the likely source of the splotches on

this particular autoradiogram of one RFLP analysis, can decrease

an analyst’s ability to interpret test results.

SOURCE: Federal Bureau of Investigation, 1989.

Some laboratories involved with RFLP analysis

use the bit pad (a digitizing tablet) to assist the

scientist’s eye. This computerized device requires

the analyst to:

●

●

●

affix the x-ray film to a back-lit tray marked

with a computer-readable matrix,

determine the position of sizing standards by

locating them visually and marking their presence with a “see-through” computer mouse,

and

use the mouse to mark the location of bands in

the sample and evidence specimens of DNA.

The computer calculates whether samples match,

based on the analyst’s use of the mouse and on

quantitative matching criteria in the computer program (see ch. 3). It also derives the frequency with

which that match is likely to appear in a given

population, based on statistical data already present

in the system. This process is repeated for each probe

used on a particular specimen (5).

An alternative, somewhat more automated, aid to

RFLP analysis involves application of image analysis technology. Image analysis employs a video

camera to create a computer image of the x-ray film.

The computer digitizes the image, i.e., divides it into

small sectors, called pixels, that can be measured

individually for information not easily gathered by

the human eye, such as the relative density or precise

relative location of bands in widely separated lanes.

Once the image is digitized, the computer can

automatically mark band positions and apply a

matching rule (see ch. 3) to calculate a match/

nonmatch and the probability of a random match.

Use of a digital image also permits application of a

mathematical algorithm to straighten’ the lanes, in

other words, correct for migration differences across

the gel. Successful application of the algorithm

depends on use of DNA standards-strands of DNA

that appear at known size intervals-in the testing

process. If inconsistent gel composition or variations

in the electric field, for instance, have caused

nonuniform migration of the size markers or the

specimen DNA, the computer-drawn grid linking

the size markers helps the analyst estimate where a

band of DNA would have appeared had the test run

properly (33). In addition, software can be applied to

normalize band patterns from gels run under widely

varying circumstances (27). Calculation of fragment

length is then based on the computer-assisted

estimate (figure 5-3).

Some commercial systems can perform these

functions, and the FBI has developed its own system

of semiautomated analysis of the x-ray films, known

as DNA autoradiograms. A description of the FBI’s

hardware system is available for emulation (figure

5-4), and their software system will be made

available to forensic laboratories that have demonstrated proficiency in the FBI testing method. The

FBI’s design specifications include speed, ease of

use, minimum cost, and the capacity to digitize an

x-ray film, establish lane boundaries, give an integrated intensity profile, locate peaks (band position),

make geometric corrections, and calculate molecular weights. Each function of the computer can be

manually overridden by the operator. If the automatic features are used, it takes about 3 minutes to

process an individual x-ray film, and a printout of

fragment lengths or direct transfer to disk for

incorporation in a database is possible (34).
Chapter 5-Computer Technology and Informational Privacy ● 117

Figure 5-2—Autoradiography: The Importance of X-ray Film Exposure

A. KI K2 Q1 B. K1 K2 Q1

Over- or under-exposure of the x-ray film can also render an autoradiogram unreadable. This case involves a rape committed in the rural

Northeastern United States. A semen stain ) was identified on a bed sheet and was submitted to the FBI Laboratory along with blood

samples from both the victim ) and Panels A and B are autoradiograms of the same Southern blot (using one probe): Panel

A is a4-day exposure; panel B a exposure. As the photographs demonstrate, results for in panel A were too weak to interpret.

However, the longer exposure (panel B) provided results for that were interpretable. Once a pattern emerged, analysts determined that

the suspect sample pattern matched the semen sample pattern for this particular probe.

SOURCE: Federal Bureau of Investigation, 1990.

Routines for automatic location of lane boundaries, production of density profiles in lanes, and

detection of band positions were originally developed at the National Institutes of Health (NIH) (43).

Computers used by the Human Genome Project,

financed in part by NIH, provide additional functions to improve readability. For instance, nonadjacent lanes can be juxtaposed for closer visual

comparison; the computer permits only horizontal

movement across the screen since vertical movement would distort band position. These computers

can also produce an enhanced visual image-a

printout of the digitized x-ray film-after mathematical correction (30).

Computers and Polymerase Chain Reaction

Laboratories using PCR to amplify DNA currently can test for the presence of specific alleles

using a type of enzymatic ‘‘dot-blot’ method. This

method involves application of a specific enzyme to

a DNA sample, which will turn a specified color if

the target allele is present. At least one company has

considered marketing a colorimetric imaging computer to detect directly the results of enzymatic

dot-blot hybridization, but such equipment is not

currently in use in any commercial or government

forensic science laboratories (27). In the future,

DNA amplified by PCR could also be tested using

RFLP methodology, and computer technology discussed in the previous section would be applicable.

Dot-blot hybridization analysis of amplified DNA

yields results that readily lend themselves to databanking. Use of allele-specific probes results in

“yes/no” answers-for instance, alleles 1-6 either

are or are not present—that can be computerized

with less interpretation (although there is some

degree of subjectivity in reading the color change)

than is needed in RFLP analysis, which requires
118 ● Genetic Witness: Forensic Uses of DNA Tests

Figure 5-3-Semiautomated Analysis of DNA Autoradiogram

The lighter points within the bands of DNA on this image represent a oomputer’s estimate of band positions based on its measurements

of the-digitized autoradiogram. The analyst can delete-points believed to be specious or add points ignored by the computer.

SOURCE:L os Alamos National Laboratory, 1989.

calculation of fragment lengths that are distributed Computers in Court:

continuously. According to the FBI, dot-blot hybridCost-effectiveness

ization of PCR-amplified DNA does not yet yield Computers make attractive analytical tools but are

certain enough identifications to warrant creation of not yet essential or standard to interpretation of

data files (22), but the FBI plans to make provisions DNA tests. The amount of analyst-computer interacfor recording PCR test results in its proposed tion varies tremendously among systems, and while

investigatory databases. the analyst may be present in court for examination
Chapter S-Computer Technology and Informational Privacy ● 119

Figure 5-4-Description of the FBI’s Computerized

DNA Analysis System

System functions

1. Digitize autoradiograph

2. Locate lane boundaries

3. Produce integrated intensity profiles

4. Locate bands from intensity peaks

5. Do geometric correction

6. Calculate molecular weights

DNA image analysis equipment requirements

Item Estimated unit cost

IBM PC/AT (or equivalent) . . . . . . . . . . . . . . $4,000

Camera stand . . . . . . . . . . . . . . . . . . . . . . . . 700

Video camera . . . . . . . . . . . . . . . . . . . . . . . . 2,000

Frame buffer . . . . . . . . . . . . . . . . . . . . . . . . . 2,000

19” RGB monitor. . . . . . . . . . . . . . . . . . . . . . 1,500

Total . . . . . . . . . . . . . . . . . . . . . . . . . . . . . $10,200

SOURCE: “Semiautomated Analysis of DNA 

grams,” Crime Laboratory Digest 1988.

Photo VA

The FBI DNA image analysis system and its developer,

Dr. Keith L. of the Forensic Science Research

and Training Center, VA.

as a witness, the computer will not be. This raises the

question, do computers lie? When an expert attests

to the presence or absence of a match between

evidence and suspect DNA, the court will certainly

want to know if the opinion is based on computerassisted analysis. Computers arguably locate bands

and apply the matching rule (see ch. 3) more

objectively and precisely than is possible with the

human eye alone. Yet these capabilities also enable

the computer to create a result where none was

apparent before by, for instance, locating very light

4

1.3 but

123

Photo CA

A type of dot-blot hybridization analysis of 

DNA was used to vacate the 1979 rape conviction in

Chicago, Illinois of Gary had been

convicted of raping in 1977.

Although freed on parole in 1985 after recanted her

court testimony, the rape remained on Dotson’s

record. PCR amplification of forensic samples (area ZZ,

area yy, and panties) and dot-blot hybridization at the HLA

 locus revealed that the genetic pattern of the

evidence samples (type 2,3), found in approximately 5

percent of men, did not match the pattern of either 

(type 1.1,4) or (1.1,3). Forensic analysis further

revealed that a former boyfriend of Webb, D. Beirne (type

2,3), could have been the source of the semen in the

evidence stains because his genetic pattern matched that

of the samples. (When Mrs. Webb recanted in 1985, she

said she accused to cover up sexual relations

 another man.)

bands. The forensic science community may want to

ensure the ability to trace analyst-computer interaction so that editing patterns can be reconstructed, and

to keep the initial image available for fresh viewing

by another analyst. Courts could be required to

determine the admissibility of computer-enhanced

images-cleaner and, arguably, more persuasive

than the typical x-ray film. Faced with such decisions, courts will need assurances that the enhanced

image is, in fact, an accurate representation of the

test results. It will likely prove necessary to subject

computer analysis tools to verification and reliability testing analogous to that received by the DNA

typing technologies themselves. (See ch. 4 for a

description of the admissibility of scientific evidence.)

Also, the improvements in gel analysis offered by

these technologies are not without cost. Acquisition

of the equipment, materials, and skills for testing

already represents a major expenditure-in time and

money—for forensic science laboratories. The FBI

estimates the costs for its computer analysis hardware at less than $11,000 (not including software or

the costs of operating a computer network) (34).

Commercial systems are considerably more expen-
120 ● Genetic Witness: Forensic Uses of DNA Tests

sive (some in excess of $100,000) (44). Forensic

science laboratories typically have limited funds,

and each one that undertakes DNA testing will have

to determine whether additional analytical tools are

necessary to meet its needs. Most of the forensic

science laboratories surveyed by OTA (see ch. 6)

have expressed an interest in database applications,

however, and computers will be critical to the

development of these capabilities.

DATABASE CONSIDERATIONS

The criminal justice community relies on specialized databases maintained by law enforcement

groups, as well as on other government and private

databases, in criminal investigations, sentencing,

and parole decisions. Databanks of fingerprints—

manually maintained but increasingly automated—

provide valuable assistance in identifying and apprehending suspects. Most of the criminal justice

community holds out the same hope for DNA

profiles. Banks of population data will enhance the

certainty of identifications based on test results and

could someday be useful for investigative purposes.

However, population data will be stored without

reference to particular individuals so these databanks cannot be used to track suspects.

Genetic databanks are not anew idea, but their

development and application to date have been

limited to the medical field or research laboratories (box 5-C). Existing genetic databases provide

much of the background for database proposals for

forensic uses of DNA tests. Maintenance of genetic

databases by law enforcement agencies is a new

idea with possible positive and negative consequences extending beyond the law enforcement

community.

Types of Databanks

Law enforcement proposals for DNA databanks

recognize two distinct purposes for electronic storage of test results. The ability to compare greater and

greater numbers of test results will enhance the legal

and scientific certainty of judgments based on DNA

tests. In addition, central storage of test results could

‘help officials track suspects or identify repeat

offenders. Several computer files and subfiles will

likely result from these various needs.

Population Statistics

The value of DNA tests for forensic science purposes lies in their unique discriminatory power. If a

sufficient number of probes are used in RFLP

analysis, for example, the tests cannot only exclude

an individual as a suspect but can show, with near

certainty, that a suspect is in fact the person

represented by the biological evidence. Though

subject to debate, experts have testified to the

existence of a match by saying, for example, that

there is less than 1 chance in 3 billion that the

evidence sample came from someone other than a

defendant. Since many fewer than 3 billion people

have been tested, these statistics are extrapolated

from smaller test pools based on allele frequencies

in that population (figure 5-5). Although it is

possible to extrapolate these statistics from small

populations, the statistics are more credible as the

number of data points (i.e., the size of the tested

population) increases (see ch. 3). It would be useful,

then, to combine the results of as many tests as

possible to create increasingly reliable statistics,

either by working with existing databanks or by

establishing new ones.

Population statistics based on allele frequencies

must be generated for each restriction enzyme-probe

combination used in RFLP analysis. Several companies maintain proprietary databases related to their

testing systems, but if their systems are not adopted

by forensic scientists, their data will not be useful.

The FBI has developed a database of population

statistics (maintained separately for Caucasians,

Blacks, Hispanics, and Asians) that will be available

to crime laboratories that use the FBI DNA typing

method. The database is maintained centrally by the

FBI and contains technical information on DNA

probes and population frequency data. It does not

contain information traceable to named individuals.

Rather, it records the sex and race of anonymous

contributors of blood specimens. The file is used to

interpret the statistical significance of DNA tests on

evidence and suspect samples (20). Significant

regional variations in allele frequencies will lead

some jurisdictions to develop population statistics

specific to their area, but the central database would

be available as a check on their figures and as a

source of data for other jurisdictions.

A population statistics database might someday yield information useful for additional investigative purposes. Population statistics on particu-
Chapter 5_Computer Technology and Informational Privacy . 121

Box 5-C—Existing Storehouses of Genetic Information

Existing databases and repositories gather, maintain, analyze, and distribute data and materials used in genetic

research that could also prove helpful to forensic uses of DNA testing. Many of the problems of information storage

and networking and of sample storage and access that will confront the forensic science community are already

being addressed in relation to these storehouses. Some of these resources are listed and briefly described here.

Databases

On-Line Mendelian Inheritance in Man (OMIM)-Since 1986, the Howard Hughes Medical Institute has

supported computerization of this atlas of human traits that are known to be inherited As of March 1,1988,4,336

traits had been identified as genetically based, including over 2,000 diseases. The list is accessible for on-line

searches free of charge.

Human Gene Mapping Library (HGML)-HGML consists of five linked database-one each for map

information, relevant literature, RFLP maps, DNA probes, and contacts. All the databases are cross-referenced and

linked to OMIM.

GenBank-GenBank is maintained by the Los Alamos National Laboratory and is the major U.S. database

for nucleic acid sequence information from humans and other organisms. Tens of thousands of scientists now have

access to the database directly or through commercial distributors.

Protein Identifiction Resource (PIR)-PIR is a resource designed to aid the research community in

identtication and interpretation of protein sequence information. It is run by the nonprofit National Biomedical

Research Foundation. Users pay a small fee for access.

Protein Data Bank (PDB)-PDB is an international computerized archive for structural data on biological

macro-molecules. PDB gathers structural information critical to the understanding of how proteins function, which

will lead to knowledge of the mechanisms of genetic disease and directions for drug design.

Repositories

American Type Culture Collection—This repository maintains a variety of different collections of human,

animal, plant, and bacterial cell lines, hybridomas, phage, and recombinant DNA vectors. It also serves as an

NIH-sponsored repository of human DNA probes and chromosome libraries, The repository also maintains a

database of information on the source and characteristics of the material in its collection.

Human Genetic Mutatnt Cell Repositoty-This repository maintains a collection of well-characterizedhurnan

cell cultures that are available to investigators worldwide at a nominal fee.

SOURCE: Office of Technology Assessment 1990.

lar alleles are currently generated by racial and justify relying on population statistics to establish

ethnic classifications, since allele size and frequency

can vary widely among such groups. This information could be used by police to narrow the field of

potential suspects. For instance, if it is known that an

allele of size “x” appears in only 0.2 percent of the

U.S. Asian population, but appears in 10.0 percent of

Hispanic Americans, investigators armed with test

results might concentrate their efforts on Hispanic

rather than Asian suspects, particularly if Asians and

Hispanics are equally prevalent in the local population. However, problems such as variability y within

defined population groups (“Asians” includes

Chinese, Japanese, and Koreans, for instance),

regional variations, and difficulty in establishing

race or ethnicity (is skin color or last name

controlling?) render current data insufficient to

the likely race or ethnicity of a perpetrator. If law

enforcement officials use this tool to develop

suspects, they will also need to take measures to

avoid discriminating against individuals or groups

based on racial classification (e.g., using population

statistics to establish probable cause).

Investigative Support Data

The law enforcement community has expressed

great interest in compiling databases of convicted

offenders and the results of tests performed on

evidence from open cases (see ch. 6). The FBI is

currently involved in the development of a theoretical model and working prototype for an investigative DNA profiling database that would include the

following types of information:
122 ● Genetic Witness: Forensic Uses of DNA Tests

Figure 5-%--DNA Variation Among

Population Groups

0.05 I

0.01

I

0.06

0.05

0.04

0.03

0.02

0.01

0

0.05

> 0.04

$

w

~ 00 3

g

u

LL 0.02

0.01

0

in American Caucasians —

“1 .

in American blacks

DNA testing laboratories report their population statistics according to racial and ethnic classifications because allele frequencies can vary substantially among, as with this probe, American

Caucasians, Blacks, and Hispanics.

SOURCE: Lifecodes Corp., 1989.

●

●

●

Open Case: The FBI would centrally maintain

a file containing DNA typing information from

blood, hair, or semen evidence left at a crime

scene. It would be used to help investigators in

the same jurisdiction, or among different ones,

determine if a series of crimes were related and

committed by the same person.

Missing Persons/Unidentified Deceased: The

FBI would centrally maintain this file as an aid

to medical examiners and investigators where

other techniques, such as fingerprints, cannot

be used. The FBI suggests that the file could

include DNA typing information from parents

who report their children missing. As children

are located, the child’s DNA type could be

compared with parent DNA on file to effect

identification.

Convicted Offenders: These files would be

maintained b-y the individual States according

to their authority, but the FBI would provide an

indexing service. It would contain DNA test

results of convicted rapists, murderers, and

others, much as fingerprint cards are retained.

States could have access to other States’ files

after receiving approval (20,48).

The FBI established an advisory group to assist

with database development in November 1988. The

Technical Working Group on DNA Analysis Methods (TWGDAM) includes scientists from Federal,

State, and local crime laboratories in the United

States and Canada who are actively involved in the

implementation of DNA typing. The FBI released

TWGDAM’S report on development of the theoretical model for a database in October 1989 (48). States

will now be selected to conduct pilot studies with the

FBI prototype. After testing and modifications, the

prototype can be used as a model in States’

development of individual DNA profiling efforts.

State legislatures are responding to these technological developments and to law enforcement officials’ enthusiasm for their potential to assist investigation. As of January 1990, at least 11 States (figure

5-6) have enacted laws to require some level of DNA

typing of convicted offenders, including:

●

●

Arizona: A 1989 law requires DNA testing of

convicted sex offenders.

California: 1985 and 1989 laws require all

convicted sex offenders to provide blood and

saliva specimens at the time of their release

from prison. Samples collected to date and
Chapter 5-Computer Technology and Informational Privacy ● 123

Figure 5-6-DNA Typing: Reported Uses and DNA Databank Legislation by State

● Reported use of DNA typing in that State as of January 1990 (see app. A).

Gray= Legislation proposing of DNA information from certain convicted offenders.

 law requires of DNA information from certain convicted offenders.

First introduced in a United States criminal court case in 1986, DNA typing has since been applied in criminal investigations in at least 45

States and the District of Columbia as of January 1990. Interest in a means to store and exchange DNA test results across jurisdictional

boundaries is also increasing, as reflected by State legislation.

SOURCE: Office of Technology Assessment, 1990.

●

●

●

future samples will be submitted for DNA ●

testing, and the California attorney general’s

office has begun studies to determine the best

methods for collecting and storing data.

Colorado: All sexual assault offenders released

on parole after May 29, 1988 will be subject to

genetic testing. ●

Florida: A 1989 law calls for a computer bank

for genetic information on convicted sexual

offenders.

Illinois: New legislation requires those who

have been convicted of sexual assault or

attempted sexual assault, or who have been in

an institution as a sexually dangerous person, to ●

submit specimens of blood or saliva to the State

police.

Iowa: A law enacted in 1989 permits DNA

testing in thecriminal law context. The attorney

general’s office will issue rules about which

crimes are covered and who will be required to

provide DNA samples. Genetic profiling could

become a condition of parole.

Minnesota: Recent legislation requires uniform

procedures for collecting DNA information in

cases of criminalal sexual conduct, requires that

a court sentencing a person for criminal sexual

conduct order a DNA analysis specimen, and

provides for admission of DNA test evidence

without expert testimony.

Nevada: A new State law requires that convicted sex offenders submit to testing of their

blood and saliva. The law also requires that the
124 ● Genetic Witness: Forensic Uses of DNA Tests

●

●

●

test results be maintained in Nevada’s criminal

history records.

South Dakota: A 1990 law allows law enforcement agencies to perform DNA typing of

people convicted of sex crimes, calling for

blood and saliva samples to be taken from those

convicted or arrested.

Virginia: The State legislature passed a bill in

the 1989 session that requires DNA typing of

convicted sex offenders. Virginia was the first

State to establish its own DNA typing laboratory and expects to be the frost State to come

on-line with a DNA databank.

Washington: State law requires a system to

collect genetic descriptions of violent and

sexual offenders. In addition, King County,

which includes Seattle, passed an ordinance

requiring DNA testing on sex offenders.

Several other States, including Connecticut, Massachusetts, Michigan, Indiana, and Ohio have proposed DNA databanking legislation that had not yet

been enacted.

Some State crime laboratories have begun to

contemplate the effects of this legislation and the

FBI’s proposals on their operations. Virginia’s

laboratory believes that DNA databanking will be an

extremely effective investigative tool. Staff also

recognize constitutional considerations (e.g., whose

test results will be included) and confidentiality

requirements (16). Virginia’s enthusiasm for databanking may be spurred, in part, by its success in

using DNA typing to apprehend a serial murderer

(12; also see box 4-B). One California crime

laboratory, however, cautions that forensic science

laboratories will not have the resources to examine

all evidence from open cases, thus the benefits of a

databank for such cases is, perhaps, being oversold (6).

Open-case and known-offenders databases could

assist police in identifying suspects, but prosecutors

will need to be alert to problems of overreliance on

database matches. The FBI believes that the databases should be used solely as information management tools, and that ideally each sample should be

reanalyzed after a suspect is apprehended (20).

Reanalysis is the only sure way to link a suspect to

the biological evidence in a new incident, and thus

adds to the strength of the DNA evidence put before

the trier-of-fact (49). Some experts also believe that

reanalysis should be undertaken with a new enzymeprobe system to eliminate preelection bias (25). The

proposed databases are designed to assist investigation, not prosecution, which will depend on new test

results.

Technical Considerations

Successful computerization of DNA test results

leaves little doubt that intra- or extra-jurisdictional

databases will be possible using technologies such

as those under development at the FBI and within the

Human Genome Project. Usefulness of population

statistics or of offender and missing persons files

will be limited, however, unless standardization

is pursued in testing as well as analysis. Dissimilar

information cannot be compared. Therefore a successful databank will require (in the case of RFLP

analysis) quality control standards for electrophoresis

(e.g., gel length and composition, temperature,

strength of electric charge, relative humidity), use of

specific restriction enzymes, and use of specific

probes in the testing process. The computer analysis

must be performed according to a standardized

protocol, i.e., guidelines for band identification must

be established and fragment lengths must be calculated and recorded using a common numerical

system. Finally, the computers used must be able to

communicate.

These requirements present no insurmountable

technical difficulties, but institutional protocols will

be needed to establish standards and oversee quality

control. Some look to the FBI for a leadership role

in this area. The American Society of Crime

Laboratory Directors supports the establishment of

a national DNA database system based on the FBI’s

RFLP program (l). Others resist such a strong

Federal role and suggest appointment of an independent commission for oversight of these matters.

A cooperative venture between Federal, State, and

local government entities and the private sector

might also satisfy technical requirements. In addition to its work with TWGDAM, the FBI has convened two international symposia on forensic applications of DNA analysis to facilitate cooperation.

The FBI, the American Electrophoresis Society, and

the International Electrophoresis Society will cohost

a similar conference in summer 1990 (44).

Peer review of results will be an important part of

any database system. Users will want to be sure that

the data on which they rely—whether it be for

population statistics or identification-have been
Chapter 5--Computer Technology and Informational Privacy . 125

carefully generated. This is likely to require that the

database be in the public domain. It also could require that the database and the methodology used to

create it be published and available for expert

review. Particularly if the database is centralized,

users will likely want to initiate review procedures

and limit the ability to bypass the review procedure

when adding or editing information in the system

(30).

The rapid development of DNA testing technologies also leads some observers to suggest that

investigatory databanks based on current testing

technology would be premature. There is no consensus on how swiftly new technologies, such as

PCR/dot-blot or DNA sequencing, will replace the

predominant RFLP methodology, but most scientists agree that the present state-of-the-art is relatively primitive and will quickly be superseded. The

FBI notes the necessity of building flexibility into

any databanking system and intends to make provisions for technological developments. Yet some

scientists believe that any commitment to data files

based on RFLP methodology will discourage the

switch to new and better testing technologies as they

are proven effective, since new and old test results

presumably could not be compared.

Database Management

Management of computerized DNA files will

require cooperation among Federal, State, and local

law enforcement agencies. Coordination of the

mechanisms for information storage and retrieval

will be no small task, but there is ample precedent for

success.

Information Exchange

A cross-jurisdictional network will be required for

a database to prove useful in detecting serial crime

or repeat offenders. DNA data held in Federal, State,

or local files could be exchanged through the

National Law Enforcement Telecommunications

System (NLETS). NLETS is a computerized messageswitching network operated by a nonprofit corporation controlled by the States. NLETS does not hold

or manage data files. The FBI considers NLETS a

possible vehicle for DNA data transmission, but that

issue has not been fully explored (1 1). The FBI

appears to favor inclusion of the DNA data in a

system they maintain: the National Crime Information Center (NCIC) (24).

By statute (28 U.S.C. 534), the U.S. Attorney

General may acquire, collect, classify, and preserve

criminal identification and crime and other records,

and exchange them with authorized officials of

Federal, State, and local law enforcement agencies,

and with penal and other institutions; the Attorney

General delegated this authority to the Director of

the FBI (28 CFR 0.85). Regulations (28 CFR 20.2)

permit NCIC to store identifiable descriptions;

notations of arrests, detentions, indictments, and

other formal criminal charges; any dispositions

arising therefrom; and details of sentencing, correctional supervisions, and release (51,53,54).

In general, NCIC is used to exchange public

record information among criminal justice agencies.

The system includes a computer at FBI headquarters, dedicated telecommunications lines, and a

network of Federal, State, and local information

systems. NCIC files include information about

persons who have been formally charged with

criminal offenses, persons who have been formally

reported as missing, and property (securities, guns,

vehicles, articles, license plates, and boats) that has

been formally reported as stolen. One NCIC file

contains entries for persons judged to represent a

potential threat to U.S. Secret Service protectees, but

who have not been charged with a current criminal

offense. NCIC currently contains about 20 million

records (most are on property rather than people) and

almost instantly answers about 75,000 inquiries a

day.

The FBI has suggested that one particular NCIC

file, the Interstate Identification Index (Triple I),

might be an appropriate place to house DNA

information (figure 5-7) (24). Triple I indexes the

names and other identifiers of persons with Federal

and/or State criminal history records. If a query of

the index yields a result, the system indicates which

jurisdiction to contact for more information. The

complete records are maintained in FBI and State

repositories (53).

The FBI makes decisions regarding new NCIC

services with the advice of the Advisory Policy

Board (APB). The APB is composed of 20 law

enforcement officer members elected from the

States and localities, 6 members appointed by the

FBI Director (2 each from the judiciary, prosecuting

agencies, and correctional institutions), and 4 members appointed by criminal justice associations (one

each from the International Association of Chiefs of
126 ● Genetic Witness: Forensic Uses of DNA Tests

Photo credit: Kevin O’Connor

J. Edgar Hoover Building, Washington, DC: Headquarters of the Federal Bureau of Investigation.

Police, the National Sheriffs’ Association, the National District Attorneys’ Association, and the

National Probation and Parole Association) (24).

In 1987, the APB considered adding DNA characteristics to NCIC. The NCIC 2000 Study Concept

Paper (37) proposed that DNA information be stored

with other personal identtifiers and descriptive information, and also stored as part of the crime scene

evidence in the modus operandi data. Inquiries

containing DNA information could then be searched

against those individuals having corresponding data.

The NCIC report suggested that DNA information

could accompany initial entry of the person or be

filed by a separate transaction, with record update

capability incorporated. Data would not be provided

with a routine response unless the search criteria

included DNA information. A routine response not

based on a DNA search would contain a statement

indicating the availability of DNA information that

could be obtained by use of a specific message type.

DNA information would be provided as part of the

validation data.

The study found that the addition of DNA information would require resources for design, development, and implementation of the storage and search

mechanism; operational support; training; and technical research to develop the search algorithm. State

and regional systems would also have to gear up to

provide for the new transaction types and lengthy

display of DNA information. The greatest drawback,

however, to adding DNA information to NCIC was

found to be the data-handling burden. At the time the

NCIC study was drafted, no known method for

automated comparison of DNA information existed,

but the FBI has begun software development in this

area. Starting the database from scratch was also

considered a hurdle. Sensitivity and security risks

associated with operation of the databank were

deemed to be minimal, although obtaining suspect

samples was considered somewhat troublesome.

(See ch. 4 for a discussion of the Fourth and Fifth

Amendment limitations on requisition of biological

samples for evidentiary purposes.)

After reviewing the proposals, the APB voted in

December 1987 not to add DNA information to

NCIC at that time. This decision comported with
Chapter 5-Computer Technology and Informational Privacy ● 127

Figure 5-7—Proposed Data Files: Who Will

Maintain Them?

The FBI has proposed separate responsibilities for FederaJ, State,

and local jurisdictions in creating and maintaining DNA databanks. This effort will require significant levels of mordination and

cooperation to be effeotive.

SOURCE: Office of T~nology Assessment, 1990.

concerns expressed by a variety of groups, including

civil liberties advocates and computer scientists,

who believed that the proposals raised substantial

privacy concerns, that the need for such information

was not firmly established, and that the technology

was not sufficiently developed to warrant immediate

acceptance. Since the 1987 vote, however, DNA

testing has spread rapidly into the criminal proceedings of many States, rekindling interest in sharing

test results. Given these recent developments, the

APB reconsidered its action in June 1989 and voted

to endorse the FBI’s plan to index and match DNA

profiles in NCIC. The FBI estimates that individual

State costs for implementing DNA databanking will

not exceed $200,000 (11). In the TWGDAM report

(48), the FBI attempts to address most of the

concerns expressed by the NCIC drafters in 1987.

Fair Information Practices

Information exchanged via a DNA database

would be used to assist one of the most important

and sensitive government functions-law enforcement. Thus database managers in each jurisdiction

will need assurances that data in the system are

trustworthy and that rights of citizens are observed

when data are collected and disseminated. Federal

research and legislation indicate that one route to

obtainin g such assurances is by adherence to fair

information practices (9,53). A study released by the

Advisory Committee on Automated Personal Data

Systems (55) proposed a Federal “Code of Fair

Information Practices” that included the following

major principles:

●

●

●

●

●

there must be no personal data recordkeeping

system the existence of which is secret;

there must be a way for an individual to find out

what personal information is in a record and

how it is used;

there must be a way for an individual to prevent

personal information that was obtained for one

purpose from being used or made available for

other purposes without his or her consent;

there must be a way for an individual to correct

or amend a record of identifiable information

about himself or herself; and

any organization creating, maintaining, using,

or disseminating records of identifiable personal data must assure the reliability of the data

for intended use and must take precautions to

prevent misuse of the data.

This Code was the model for the Privacy Act of 1974

(5 U.S.C. 552a), which relies heavily on individual

initiative to ensure that records are accurate. Since

the proposed DNA files could have such major

consequences for both individuals and the government, the managers of these files will probably want

to take special note of the fifth principle, which

speaks to management’s responsibility for system

integrity. Sound data management principles would

include security, accountability, and data accuracy

and reliability (23).

Data security is critical—both access control

and control of the activities of those granted

access. Throughout the private and public sectors

of the economy, sensitive information is entrusted

to computer networks in the belief that sufficient

security controls exist. Computer “hackers”

regularly manage to breach these controls. Highlevel security measures add costs to a computer

system, and a judgment regarding the sensitivity of

the information in the databank will be required in

order to ascertain a level of adequate, cost-effective

protections (52).

Accountability controls ensure that authorized

users do not misuse a system. Many systems log all

entries and queries by means of user identifiers,

which creates an audit trail. This technique is

particularly important when sensitive information,

such as criminal history, is involved.

Record quality-accuracy and reliability-is also

a particular concern with criminal history records.

Federal courts have imposed a duty on law enforcement agencies to maintain accurate criminal records
128 ● Genetic Witness: Forensic Uses of DNA Tests

(28,32,47), But incidents of arrest based on false or

incomplete information in NCIC continue (23). If an

individual is falsely arrested based on inaccurate

DNA information, there may be a cause of action

against NCIC or another offending government

entity.

DATABANKS AND

INFORMATIONAL PRIVACY

Recordkeeping is one of mankind’s oldest activities (59). Governments record births, deaths, entitlements, and penalties, for example, to help dispense

the privileges and protect the rights of citizenship.

Constitutional principles, particularly the right of

privacy and the right to due process, establish a

framework for questions about what types of records

are kept, on whom, and by whom they are kept, and

who gets access to them. Recognition of these rights

evinces a belief that individual freedom and liberty,

the foundations of U.S. society, prosper when

detailed information about a person’s life is private (31).

Computerized databanks raise particularly sensitive issues of informational privacy. Government

and private-sector entities collect vast stores of

personal information for one purpose, which, with

the advent of computer networks, can easily be

applied to new purposes-with or without the

knowledge or consent of the data subject. The way

in which this personal information is then used often

has a critical impact on an individual’s ability to

obtain employment, credit, insurance, and other

valued services and benefits. Ensuring that sensitive

or stigmatizing information remains private protects

an individual from harm. But regardless of the

substantive harm that can be done to the victim of

unfair information practices, informational privacy

also safeguards the interest in personal freedom.

Collecting, retaining, and disclosing personal information by institutional recordkeepers can have a

chilling effect on an individual’s sense of autonomy

and dignity (7). Standards exist for the collection,

maintenance, use, and disclosure of personal information, but they vary among jurisdictions and

among data types.

What is personal information? One working

definition states that it is “any information that

describes a natural person, and thus is defined by the

reference of the information and not by its content.

Thus so long as information refers to an identifiable

individual-whether that reference is made by a

person’s name, or a number, or some other identifying characteristic-then it is personal information’

(50). Name, address, social security number, credit

rating, and fingerprints are personal information; so,

too, are the results of DNA tests. Personal information varies in its specficity and the degree of

protection it receives. Many people share the same

name, but fingerprints are unique. Addresses are

usually published in the telephone book, but access

to credit ratings is somewhat more restricted. Information that identifies an individual is personal

regardless of content, but content determines, according to social mores, the level of privacy

accorded personal information.

Governments and the private sector regularly

collect and “bank” personal information, ranging

from a person’s birthday to whether he or she has

declared bankruptcy. The law enforcement community currently maintains databases including much

personal information, such as a person’s name and

aliases, fingerprints, criminal record, eye and hair

color, and some medical information, such as

whether a person has epilepsy. Law enforcement

officials also have access, by statute, subpoena, or

voluntary cooperation, to many other public-and

private-sector databases. The Privacy Act offers

some protection regarding data collection and

access to information about most individuals

included in Federal databases, but the act specifically provides that criminal justice agencies may

exempt their record systems from many of its

provisions (5 U.S.C. 552a(b)(7), (c)(3), @(2)).

Regulation of non-Federal databases is left to the

States, but very little privacy protection exists there.

State criminal history files range from being

completely open matters of public record, as in

Florida, where private access is permitted, to

being sealed from public scrutiny (as in Massachusetts) (51).

To secure funding, any government agency seeking to establish a new database is usually asked to

demonstrate a need for the information to be

collected. This exercise is intended to ensure that

government funds are spent wisely and to reassure

those concerned about growing data collection that

a valid social purpose is being served. Many

observers now ask why the FBI, for instance, needs

a DNA database (14,45).
Chapter 5-Computer Technology and Informational Privacy ● 129

The FBI cites the fact that DNA is a unique

identifier; no two people share the same genetic

sequence (except for identical twins). As such, DNA

can enhance the ability to identify suspects in certain

types of crime-particularly rape, sometimes murder—where no other physical evidence is available.

If the perpetrator is a repeat offender with DNA test

results on file, identification will be complete (in the

absence of error) and apprehension and prosecution

eased.

Law enforcement officials often cite the high rate

of recidivism among convicted offenders to justify

databases. The Bureau of Justice Statistics (BJS)

recently announced the results of a survey of

recidivism among State prisoners released in 1983

(10). The report showed that 62.5 percent of this

group had been rearrested within 3 years, with 41.4

percent returning to prison. The rate of rearrest

among violent offenders was 59.6 percent. Released

rapists were 10.5 times more likely to be rearrested

for rape than other released offenders, and released

murderers were about 5 times more likely than other

released offenders to be rearrested for homicide. The

study also revealed that one out of every eight

rearrests was for a crime committed in a different

State from where the prior offense occurred. The FBI

believes that DNA databases might significantly aid

their efforts to solve the high number of forcible

rapes (92,486 reported in 1988) and of murders and

non-negligent manslaughter cases (20,675 reported

in 1988) in this country, as well as a growing number

of serial crimes (21).

Those less inclined to increase the amount of

personal information stored in government databases could cite other aspects of the BJS study. For

instance, only 6.6 percent of released murderers

were rearrested for homicide and only 7.7 percent of

released rapists were rearrested for rape (10). Some

cite the fact that many accused rapists choose to

litigate only the issue of consent, thus the source of

the biological evidence—the only issue that can be

addressed by DNA testing-is never in question (8).

Other research shows that blood was available to

link a suspect to murder in only 15 percent of cases,

semen available to link a suspect to rape in 10

percent of cases, and hair available to associate a

suspect to the crime in murder or rape cases only 5

percent of the time (41). These statistics make a less

compelling case for a database than those presented

by database advocates and suggest a need to weigh

the social benefits of investigatory databases against

the potential social costs.

New means to detect and deter crime generally

compel great respect in this country. When a social

goal, such as crime control, competes with a

fundamental right, such as privacy, however, it is not

a foregone conclusion that the social goal will

prevail; relative weights must be established in each

case (29). The effort to balance law enforcement’s

advocacy with counter arguments from database

opponents requires a determination of the individual

liberties that might be compromised by the databases (9,19,42). A number of questions about where

the collection of such data might lead must be posed

and analyzed.

Who Will Be Tested?

Law enforcement proposals to date generally

would limit test populations to violent offenders, or

to the even smaller population of sex offenders. Law

enforcement databases currently record much personal information, of varying sensitivity, on all

offenders (figure 5-8). Some commentators view

DNA information as no greater an infringement on

privacy than anything currently collected. Others

find DNA data increase the sensitivity of the

criminal history records to unacceptable levels.

These experts tend to view criminal records as a civil

disability imposed in addition to the criminal

penalty. A civil disability is any forfeiture of right or

privilege exacted by society that hinders a person’s

ability to function normally after completing a

criminal sentence (e.g., loss of voting rights). If

adding DNA information to criminal records further

discourages a decision to hire an ex-felon (e.g.,

because it revealed potential for a serious and costly

health problem), that would bean imposition of civil

disability and a potential threat to rehabilitation that

should be considered (26). Imposition of a greater

civil disability may or may not be a price society is

willing to pay for the benefit DNA records provide.

Once violent-offender databases were established,

would justification for testing all convicted offenders be found? No specific proposals for such testing

have been made, but OTA’s survey of State and local

crime laboratories (see ch. 6) found that many labs

are considering applying DNA tests in cases of

suspected homicide, sexual assault, violent crime,

serial crimes, hit and run, and robbery when crime

scene evidence is available for comparison. Criteria
130 ● Genetic Witness: Forensic Uses of DNA Tests

Figure 5-8—How a Database of DNA Information Could Be Created and Used

Who will be tested?

Hair/Eye color

/

Behavioral characteristics

The law enforcement community cites a need for a DNA database to apprehend repeat offenders and solve serial crimes; the military for

additional identification (e.g., for victims of wars and mass disasters). Civil liberties experts, however, fear that DNA testing could expand

beyond legitimate identification needs, and that test results would be widely available through the de facto national database.

SOURCE: Office of Technology Assessment, 1990.

for establishing the types of crimes suitable for DNA

testing include considerations of costs, whether

conventional methods are adequate, and any FBI

guidelines that are established. Even if test results

are produced in a wide variety of crimes, they need

not all be included in investigatory data files, but

could be.

Proposals to establish DNA databases for

identification purposes do not stop with law

enforcement. The military services are considering

proposals to begin using DNA tests for criminal

justice purposes, and are also contemplating performing DNA tests on all current personnel and

military recruits to establish a database that would

enhance the ability to identify those killed in wars or

the victims of mass disasters (57,58). Cases like that

of Cpl. Carl Houston, whose body was identified 43

years after he disappeared, might be resolved more

quickly and reliably if a DNA database existed. So,

too, might situations like the Gander air crash in

Newfoundland, Canada, where noncomputerized

dental records were destroyed in the disaster (46).

(Normally records on military personnel are transported separately from the individuals to which they

refer; in the Gander incident, however, troops

returning from the Sinai were accompanied by their

records, so identification of victims from the plane

crash following refueling in Newfoundland was

more difficult.) But this database might also be a

permanent computer record of personal information

on all military personnel. Will society consider that

an appropriate use of personal information?

Should parents be able or compelled to store a

DNA print of their child for use in the event of a

kidnapping or to resolve allegations of switched

babies? Such a step might ensure the existence of an

immutable identifier, readily and scientifically attributable to an individual, unlike an assigned social

security number, for instance (box 5-D). On the

other hand, it might also encourage genetic discrimination if DNA samples were probed in-depth. In the

mid-1960s, scientists found a high incidence of the

XYY chromosome pattern in violent criminals. The

press and the public, including some scientists,

called for prenatal screening or newborn testing so

that those genetically predestined to a life of crime

could be tracked. Some innocent children were

branded as inferior before this theory was discredited (15).

The Twigg case (4) also raises interesting points

on this issue. The Twiggs’ daughter, Arlena, suffered from a heart problem, and genetic tests

performed before her death revealed that Arlena was
Chapter S-Computer Technology and Informational Privacy ● 131

Box 5-D—Newborn DNA Typing

Parents sometimes lose their children-they are

kidnapped or switched; they run away. If the child

and parents are separated for a period of time that

renders normal, physical identification difficult or

unreliable, DNA testing can assist reunification.

Paternity, or parentage, testing is a frequent application of DNA typing, and well within the capabilities

of current DNA technologies.

If, however, one or both parents is unavailable at

the time the child is recovered, or if there is no clue

to connect a child with his or her parents, accurate

identification becomes more difficult. That problem

has led some experts to suggest that children should

acquire a DNA profile at birth, which could be

stored for direct comparison with a profile taken at

the time of recovery. One company recently began

marketing such a service.

Lifebank, Inc., a subsidiary of Quantum Chemical Corp. and sister company of Lifecodes, was

incorporated in July 1989 for the purpose of

providing neonatal DNA storage services. Lifebank

will extract DNA from a newborn’s umbilical cord

blood and create a DNA profile using Lifecodes’

technology. The profile and remaining DNA sample will be preserved at Lifebank facilities for 18

years.

According to Lifebank, the DNA information

will be maintained with strict confidentiality. Only

a child’s parent or guardian will have access to the

information; access will be controlled through a

passbook/code number system. The company foresees using the DNA profile only for identification

purposes, e.g., to reunite parents and missing

children. The company does not intend to make the

umbilical cord blood available for paternity testing

or further genetic testing.

Lifebank began marketing their services in December 1989 through pediatricians and obstetriciangynecologists. It hopes eventually to expand its

market, perhaps by providing DNA banking services for the military or complete families.

SOURCE: Oflice of Technology Assessment 1990, based onL.

Kelly, Lifeban@ Inc., Bridgewater, NJ, personal

cornmunicatio~ January 1990.

unrelated to either parent. The Twiggs, seeking to

learn what happened to their biological daughter,

requested a judge to compel genetic testing on a

child, Kimberly Mays, who was born at the same

time and in the same hospital as Arlena, but who was

raised by another family. Kimberly’s father, Robert

Mays, resisted this request, as he believed it would

Arlington, VA

Some propose that DNA prints stored in a databank could

be useful in missing children investigations.

unnecessarily disrupt his child’s life. In 1989, the

Twiggs and Mr. Mays compromised: the Twiggs

agreed not to seek custody in return for Mr. Mays

agreeing to the tests. Eight genetic tests performed

at Johns Hopkins University confined that Kimberly is the Twiggs’ biological child. If a judge

approves the agreement between the Twiggs and Mr.

Mays, the Twiggs intend to seek visitation rights.

The Twiggs have sued the hospital where the girls

were born, charging negligence, malpractice, or

deliberate acts. Existence of a DNA databank might

preclude the need for court intervention at the testing

stage in similar cases (each child’s DNA test results

would be on file), but it would do little to resolve the

social or moral dilemmas involved.

Would an adult be permitted to have a childhood

DNA record purged from a databank, or control how

that record was used? Satisfactory answers to these

questions may require answers to additional, broader

questions.

What Do the Tests Reveal?

Forensic RFLP probes in use and under immediate development identify highly variable, noncoding

segments of the genome-sometimes called ‘junk’

DNA—that reveal only an individual’s identity.

DNA profiles in this respect resemble fingerprints—

they are unique, but otherwise uninformative. On the

other hand, the DQX enzyme system used to test
132 ● Genetic Witness: Forensic Uses of DNA Tests

PCR-amplifed DNA can reveal important information regarding a disease condition (see ch. 3).

For most people, the information most likely

(at this time) to be added to a criminal history

record—RFLP results—probably would not escalate privacy concerns associated with those

files because scientists cannot yet make disease

associations with the type of information now

being collected. Similarly, individuals are asked to

provide personal information, from social security

number to health status, for so many purposes, that

files of “junk” DNA information on military

recruits or newborns might be found unobjectionable.

Some are more cautious about DNA collection

and storage. They include genetic data in that

category of information-along with religion, votes,

special confidences-that civil liberties tradition in

this country protects from compelled disclosure.

These observers are particularly wary of forensic

science laboratories applying probes used for medical diagnosis.

DNA testing methods applicable to forensic

science are the same as those used in medical diagnostics-to reveal sickle cell or Huntington’s disease, for instance. Evidence of disease is personal

information and normally designated as highly

sensitive. If it were added to a criminal history file,

any civil disability created by the file might be

compounded, particularly if the information were

available to prospective employers. Society might

be willing to impose that disability on crimainals, but

would likely be more hesitant with regard to children

or military personnel.

Diagnostic tests do not reveal unique identity in

the reamer of ‘junk’ DNA, thus no suggestion has

been made to include DNA-based medical information in law enforcement or other identification

databases. However, some probes used in forensic

science locate alleles that lie near a disease locus,

thus there may be some association between the

“junk” DNA and the disease locus. The possibility

exists to test DNA acquired specifically for identification purposes for disease information and to

include that information in a database. This option

may become more attractive over time, especially as

the number and types of probes for genetic disorders

increase.

Some scientists developing the DNA tests believe

it will be possible to identify behavioral and other

mental characteristics within a decade (e.g., genetic

bases for schizophrenia and bipolar disorder have

been hypothesized). Many forensic scientists do not

believe a legitimate law enforcement purpose could

be established for such tests and, thus, do not

advocate their use in the criminal justice community. Such tests are not yet available, but the civil

disabilities attached to misuse of such information,

if the tests are developed, could be enormous.

Obviously, testing technologies are under rapid

development, with new probes becoming available

regularly. Database proponents have recognized the

need to build flexibility into any system adopted to

accommodate new developments. Still, a problem

with the long-term value of the database will arise

unless provisions are made to update test results as

new testing methods become available. This dilemma leads to another broad and unresolved

question.

How Will DNA Information Be Stored?

Complete genetic information on an individual

resides in the DNA sample acquired for testing.

Tests render portions of this basic information

accessible, but are limited in scope, i.e., one test can

only reveal so much about an individual’s genetic

makeup. Current technology permits several different probes to be used on one Southern blot, but each

one has a limited lifetime and a limited amount of

information on it. DNA itself can be frozen without

significant degradation, and technologies exist to

identify the small mutations that can occur during

storage (39). Thus three levels of data storage will be

available to database managers: test results, Southern blots, and a DNA sample.

Crime scene evidence and DNA samples from

victims and suspects are being and will continue to

be tested to help identify perpetrators. Current

proposals for law enforcement databases anticipate

a need only for test results of convicted offenders

and unidentified crime scene evidence in investigatory databanks, which, since tests are currently

limited to identification, limits the privacy concerns

associated with those databanks. To further avoid

privacy concerns, law enforcement officials could

take specific steps to assure that test results and test

materials of victims (and of suspects who are not

convicted) are destroyed. Consider, though, a recent
Chapter 5-Computer Technology and Informational Privacy ● 133

English case. T’he defendant voluntarily contributed

a blood sample during a criminal investigation and

was eliminated as a suspect in that case. Police

retained the test results, however, and compared

them with evidence from other cases, leading to the

individual’s arrest on another rape charge (17).

A Federal court has determined that NCIC’S

authorizing statute (28 U.S.C. 534) only permits

storage of information on individuals who axe

subject to formal criminal proceedings, thus it may

be illegal for NCIC to maintain victim DNA

information in any form traceable to the individual

(32). The databanks of population statistics may

include the results of tests run on both victims and

suspects, but since these data are maintained anonymously, privacy concerns again are limited.

Although many officials favor some means of

storing test results, no consensus exists within the

forensic science community on the issue of DNA

sample storage. Two panels convened to help

formulate policy in this area reached slightly different conclusions. The New York State Forensic DNA

Analysis Panel recommended that DNA samples not

be stored in order to avoid improper use (38). The Ad

Hoc Committee on Individual Identification by

DNA Analysis of the American Society of Human

Genetics (ASHG) concluded that it would be appropriate to retain DNA samples if permissible uses

were defined and adequate rules of access and

disclosure implemented (3).

The main reason to store a DNA sample would be

to facilitate retesting whenever necessary to keep up

with changes in preferred testing technology or

information requirements. Standardization of identity tests would eliminate the need for retesting

unless new technologies were adopted or officials

determined a need for additional genetic information. If retesting is required, it might also be possible

to obtain new samples from convicted offenders,

making storage unnecessary. Obtaining a DNA

sample from an involuntary donor for purposes

unrelated to a specific crime is likely to be problematic, however.

Many ethicists believe sample storage is inappropriate, primarily because it increases the likelihood

that specimen DNA will be tested for information

beyond unique identity. Since noncoding sections of

the genome vary most between individuals, probes

for “junk” DNA, rather than medical diagnostic

probes, will likely continue to be applied to establish

links between a suspect and a crime scene. If a

suspect’s sample is available for further testing,

however, the opportunity arises for use of medical

diagnostic probes, which would generally be considered a misapplication of the technology. Destruction

of samples, except for crime scene evidence, and

maintenance of only ‘junk’ DNA test results would

resolve this issue. Again, privacy concerns are

especially acute with regard to storing samples from

victims and unconvicted suspects, and some suggest

that the law enforcement community take special

steps to assure that these samples are destroyed.

If sample storage is deemed necessary for forensic

applications, forensic scientists and law enforcement officials could turn to work done by the Ad Hoc

Committee on DNA Technology of the ASHG. This

group has published some “Points to Consider”

regarding preservation of DNA samples taken for

diagnostic purposes (2). The guidelines address

questions of ownership, confidentiality, release to

third parties, quality assurance, and certification.

Southern blots, a middle ground, can be stored

and reprobed, but contain a limited amount of

information. The limit is imposed by the life of the

Southern blot, which can be reused only so many

times, and by the restriction enzyme used to

fragment the DNA, which limits the probes that can

be used. In some circumstances, Southern blot

storage could be necessary to preserve the evidence.

Otherwise, this storage mechanism offers few technical benefits and potentially raises many of the

same privacy concerns associated with sample

storage.

Legislatures appear to be wary of imposing

substantive restrictions on collection or storage of

personal information (7). Most legislation focuses

on controlling access to information already collected. The Supreme Court, too, has seemed willing

to defer to a government’s perceived need for

personal information if proper access controls are

employed (60). Thus another question regarding a

potential DNA database is raised.

Who Will Have Access to DNA Information?

Civil liberties tradition holds that sensitive information collected under government authority should

not be shared indiscriminately. Noncriminal justice

use of NCIC’S Triple I file is prohibited (53), thus

access to information in that index is quite limited.
134 ● Genetic Witness: Forensic Uses of DNA Tests

However, FBI proposals for DNA databases

envision maintenance of DNA information in State

criminal history files, which vary in their accessibility. Concerns about some types of criminal behavior

(particularly sex offenses) have led Congress to

require that State criminal history files be opened to

certain noncriminal justice agencies and employers.

For example, in 1984 Congress required States to

establish procedures to provide for nationwide

criminal history checks for all operators and employees of child-care facilities (Public Law 98-473).

There has also been growing interest in implementing criminal record checks for teachers, youth group

leaders, and elder-care providers. In addition, there

has been increased emphasis on criminal history

record checks for current and prospective Federal

employees (53). In a majority of States, private

organizations can lawfully obtain conviction information (and often arrest information) from State

criminal history record files, though conditions

regarding access range from very strict (e.g., in

Massachusetts) to quite liberal (e.g., in Florida).

The Supreme Court recognizes a strong privacy

interest in criminal history records (56). The Supreme Court has ruled, however, that criminal

justice agencies are not required to maintain confi

dentiality of official records (40). The Privacy Act

permits the Attorney General to exempt the FBI

from its provisions, but the FBI has adopted privacy

regulations for governing NCIC (28 CFR 20). States

that violate privacy standards with regard to access

to FBI files can be denied NCIC services, but

compliance is largely voluntary since the FBI has no

active enforcement process (51).

Regulation of access to files maintained by

private laboratories remains an open question. Files

created for criminal justice purposes may be subject

to Federal or State legislation. New means of access

control may be necessary if private DNA databases

are established to help, for instance, parents identify

their children.

Investigatory Use of Population Statistics

The preceding questions have dealt mainly with

the possible informational privacy implications of

investigative support databases such as those proposed by the FBI. Databases of population statistics,

which do not contain information traceable to an

individual, could also change the nature of law

enforcement in the United States. Consider the

following scenario: A rape occurs in a small

community with a population equally divided between Blacks and Caucasians. Semen recovered

from a vaginal swab expresses allele size characteristic of 9 percent of the Black population and 0.5

percent of the Caucasian population. No other

evidence is available. The scenario raises the following questions:

●

●

●

A

Does the entire Black male population in the

community become suspect?

Are the statistics sufficient to issue a warrant

demanding blood samples from all Black males

in the community?

If a warrant could not be issued, would a

general call for “voluntary’ testing of Blacks

be condoned? (Box 5-E describes a case

involving voluntary testing.) Would failure to

volunteer create probable cause for a warrant to

be issued?

Supreme Court case from 1969, Davis v.

Mississippi (13), involving fingerprint evidence

raised similar questions. In Davis, a rape victim

described her assailant as a young, Black man, but

could not identify him. Police recovered partial

fingerprints from a windowsill. Over a 10-day period

following the rape, police, without warrants, questioned and fingerprinted at least 24 Black youths and

interrogated 40 to 50 others. Police eventually

arrested, based on fingerprint evidence obtained

during warrantless questioning, a youth who had

done yardwork for the victim. The Supreme Court

characterized police behavior in Davis as a dragnet

and excluded the fingerprint evidence as obtained in

violation of Fourth Amendment protections. The

majority of the court refused to accept the State’s

argument that the inherent reliability of the fingerprinting process would exempt it from probable

cause requirements.

The facts of Davis and the Pitchfork case (box

5-E) indicate that powerful identification tools can

tempt police to extend their investigatory actions

beyond generally accepted bounds. Observers have

recognized the power of new technologies to trigger

dragnets and searches where there is no specific

evidence of wrongdoing. This power effectively

shifts the presumption of innocence to one of guilt,

with the burden of proof on the targets of the

investigation (31). One State attorney general has

noted the possibility that DNA typing technologies

in particular may create a temptation to engage in
Chapter 5-Computer Technology and Informational Privacy . 135

Box 5-E—The Leicester Case: DNA’s Criminal Debut

On November 21,1983, Lynda Mann, 15 years old, was sexually assaulted and killed on an isolated footpath

in the small English county of Leicestershire. Semen recovered from an internal labial swab and a deep vaginal swab

was tested. The blood tests could not positively identify the killer, and the scientific label ‘Group A secretor, PGM

l+,” a blood type shared by just 10 percent of the population, was the only clue police had.

The police went to every residence in three nearby villages filling out a pro forma document on male residents

between the ages of 13 and 34 (an arbitrary range). Patient records from the local psychiatric hospital were also

carefully examined. The local newspaper published appeals for help, leading to many tips, all of which proved

useless. The investigation team started out with 150 officers, dropped to 8 by May, and was disbanded in August

1984. One-hundred-and-fifty blood tests on potential suspects were performed with no positive results.

In a neighboring village, 15-year-old Dawn Ashworth was similarly slain on July 31, 1986. Police assumed

this was a serial murder, and semen was recovered from a vaginal swab and a clothing stain.

On August 8, 1986, police arrested 17-year-old Richard Buckland, a kitchen porter from the psychiatric

hospital, for Ashworth’s murder. Buckland had a history of sexual behavior that would fit the pattern presumed for

the murderer and had known the victim. After prolonged questioning, he made a graphic confession to killing

Ashworth.

At this point, the police officer charged with investigating Mann’s murder decided to try to connect Buckland

to her death. He delivered the semen samples taken from Mann and Ashworth and blood from Buckland to Dr. Alec

Jeffreys at Leicester University. Jeffreys, well known because of a highly publicized immigration case in which he

applied his new technique of “DNA fingerprinting,” accepted the request for assistance. He concluded that both

girls were raped by the same man, and that Buckland was not the perpetrator. On November 21, 1986, Buckland

became the first accused murderer in the world to be set free as a result of a DNA test.

A new inquiry to investigate both murders began immediately, and on January 2, 1987, police announced a

“revolutionary step”—a campaign of voluntary blood testing for every male resident in the three villages. Men

were requested by form letter to appear at a certain time for sampling. Collected blood and saliva was first tested

for PGM 1+, A secretor characteristics; any blood meeting these criteria was forwarded to Jeffreys for the DNA test.

The Police made “house calls” on those men who failed to appear. English civil liberties experts expressed concerns

about coercion and the ultimate disposition of test results.

Colin Pitchfork received his notice to appear that January and told his wife he was afraid to give blood because

of his criminal record for flashing. Pitchfork eventually convinced a coworker, Ian Kelly, to give under Pitchfork’s

name using a falsified identity card, and Pitchfork received notification of a negative test.

By May 1987, the police had taken samples from 3,653 men and boys, a 98 percent response rate, but had not

found the killer. In August, Kelly admitted his act of deception to other coworkers, one of whom had also been

approached by Pitchfork. Six weeks later the police were informed and Kelly was arrested. Pitchfork confessed to

both murders on his subsequent arrest in September 1987.

Pitchfork received a double life sentence for the murders, a 10-year sentence for each of the rapes, 3 years each

for two earlier sexual assaults, and 3 years for conspiracy, all to be served concurrently. The concurrent sentences

mean he could be released within 10 to 12 years. At sentencing, the judge noted that without DNA testing, Pitchfork

might still beat large.

SOURCE: J. Wambau~ The Blooding (New York NY: William Morrow& Co., Inc., 1989).

genetic ‘‘fishing expeditions.’ A professor of foren- To date, few population statistics have been

sic science has voiced a concern that mirrors the

third query in the hypothetical case, i.e., calls for

massive voluntary DNA testing to solve a crime will

make a suspect of everyone refusing the test (35).

Existing interpretations of Fourth and Fifth Amendment protections may also control application of

DNA typing technology, but the issues cannot be

ignored as the technology becomes more accessible.

published, and these have received minimal scrutiny. Thus it maybe unlikely that police will depend

on them to help direct their investigations, especially

since many scientists believe that population statistics will never be sufficient to indicate reliably a

perpetrator’s race (36). Their very inadequacy,

however, heightens concern that limits to the technology be recognized prior to reliance.
136 ● Genetic Witness: Forensic Uses of DNA Tests

FINDINGS AND SUMMARY

Enthusiasm for and availability of DNA typing

technologies among the forensic science community

grows daily. Concerns about the ability to share

information collected from these tests directly follow cost and court acceptance as priority considerations. Several States are debating funding the

acquisition of the testing technologies and/or ordering study of networking DNA results. Despite the

rapid pace of introduction, the relative newness of

the technology provides an opportunity to consider

the pros and cons of databanking before making

major investments.

The technical capability to network DNA information exists, but should it be used? Beyond the

necessity for population statistics, the main rationale

for databanking test results appears to be the desire

of law enforcement agencies to catch repeat offenders and to aid investigation of serial crime. Experts

point to recidivism among rapists as an illustration

of a databank’s usefulness-recidivists would be

more quickly identified if prior test results were on

file. Some experts also believe that serial crime

could be far more prevalent than realized. A database

permitting jurisdictions to store DNA information

from unsolved crimes could enhance the ability to

identify crime as serial in nature, and therefore

encourage collaborative endeavors to solve such

crimes.

On the other hand, collection of “junk” DNA

(noncoding segments of the genome) for identification purposes will, according to some experts, start

society down the slippery slope to unwarranted

invasion of privacy. These experts fear that suspect

samples will be tested for medical information or

behavioral characteristics, and that information generally accorded privacy protections could be entered

into computer files that normally are not considered

sensitive.

Some experts also suggest ‘‘technology-forcing’

type reasons to delay databanking at this time. They

believe that current tests are primitive but that

technology is rapidly advancing. If extensive databasing is done using current, less sophisticated tests,

there may be reluctance to adopt new and better

technologies that could detract from the usefulness

of the initial databases. Of course, this problem

would be diminished by a decision to store DNA

samples in addition to test results. The database

could be constantly updated by performing the

newest tests on stored specimens. Such a procedure,

however, might increase the likelihood that specimens would be tested for information other than

“junk” DNA as new probes are developed, which

raises civil liberties concerns.

Databanks of population statistics will likely

grow with or without forensic science test results

(e.g., through efforts to map or sequence the

genome). Since these data do not identify individuals, misuse could only occur in investigations where

no suspect has been identified (e.g., to focus efforts

unfairly on a particular racial or ethnic group). Such

broad applicability of the technology means that

possible misuse in forensic science would have to be

controlled by limiting access to the population

statistics, rather than by deciding not to bank the

information.

If deliberation on the pros and cons of databanking are resolved in favor of its use, some technical

concerns must be addressed. Successful networking

will require databases built around test results

derived from standardized procedures and analyzed

according to standardized protocols, to be conveyed

on standardized computer hardware and software. At

the moment, no institutional framework exists to

require such standardization, but it appears to be in

the best interests of both the States and the FBI.

Various means to ensure data integrity-both

through peer review

need to be integrated

1.

2.

3.

4.

5.

CHAPTER

American Society

and security measures-also

in any computer system.

5 REFERENCES

of Crime Laboratory Directors,

“Policy Statement on Forensic Applications of DNA

Typing, ’ adopted by the Board of Directors, May 3,

1989.

American Society of Human Genetics, Ad Hoc

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Human Genetics 46:631-634, 1990.

Associated Press, “Lawyer for Twiggs Says Robert

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Balazs, I., Lifecodes Corp., Valhalla, NY, personal

communication, April 1989.
Chapter 5-Computer Technology and Informational Privacy ● 137

6. Bashinski, J.S., Oakland Police Department, Criminalistics Lab, personal communication, April 1989.

7. Belair, R.R., “Information Privacy: A Legal and

Policy Analysis,” InformationReports and Bibliographies 12:2, 1983.

8. Bereano, P.L., Professor, Engineering and Social

Policy, University of Washington, testimony before

U.S. House of Representatives, Subcommittee on

Civil and Constitutional Rights, Committee on the

Judiciary, Mar. 22, 1989.

9. Berman, J., and Goldman, J., A Federal Right of

Information Privacy: The Need for Reform, Project

on Communication and Information Policy Options,

No. 4 (Washington, DC: Benton Foundation, 1989).

10. Bureau of Justice Statistics, A Survey of Recidivism

Among Prisoners Released in 1983 (Washington,

DC: U.S. Department of Justice, March 1989).

11. Castonguay, R.T., Federal Bureau of Investigation,

Washington, DC, personal communication, April

1989.

12. Dabbs, D., “The Use of DNA Profiling in Linking

Serial Murders,” Medico-Legal Bulletin 37:6, 1988.

13. Davis v. Mississippi, 394 U.S. 721 (1969).

14. Edwards, D., “Chairman’s Opening Statement,”

U.S. House of Representatives, Subcommittee on

Civil and Constitutional Rights, Committee on the

Judiciary, Mar. 22, 1989.

15. Elmer-Dewitt, P., ‘‘The Perils of Treading on Heredity,” Time 70, Mar. 20, 1989.

16. Ferrara, P. B., Virginia Bureau of Forensic Science,

Richmond, VA, personal communication, May 1989.

17. Gelowitz, M.A., “DNA Fingerprinting: What’s Bred

in the Blood,” Criminal Reports (3d) 65:122-135,

1989,

18. Goldman, J., American Civil Liberties Union,

Washington, DC, personal communication, August

1989.

19. Gray, S.H., “Electronic Databases and Privacy:

Issues for the 1990’ s,” Science, Technology, and

Human Values 14:3, 1989.

20. Hicks, J.W., Federal Bureau of Investigation, testimony before U.S. House of Representatives, Subcommittee on Civil and Constitutional Rights, Committee on the Judiciary, Mar. 22, 1989.

21. Hicks, J. W., Federal Bureau of Investigation, “Conference Summary,” International Symposium on the

Forensic Aspects of DNA Analysis, Quantico, VA,

June 23, 1989.

22. Hicks, J.W., Federal Bureau of Investigation, Washington, DC, personal communication, August 1989.

23. Horning, J.J., Goldman, J., and Gordon, D. R., “A

Review of NCIC 2000: The Proposed Design for the

National Crime Information Center,” prepared for

the U.S. House of Representatives, Subcommittee on

Civil and Constitutional Rights, Committee on the

Judiciary, February 1989.

24. Johnson, D. M., Federal Bureau of Investigation,

“National Database Development,” International

Symposium on the Forensic Aspects of DNA Analysis, Quantico, VA, June 19-23, 1989.

25. Lander, E., Whitehead Institute for Biomedical

Research, Cambridge, MA, personal communication, April 1989.

26. Laudon, K. C., Dossier Society: Value Choices in the

Design of National Information Systems (New York

NY: Columbia University Press, 1986).

27. McDonnell, M., Automated Microbiology Systems,

Inc., San Diego, CA, personal communication, May

1989.

28. Maney v. Ratcliff, 399F. Supp.760(E.D. Wis. 1975).

29. Marchand, D. A., The Politics of Privacy, Computers,

and Criminal Justice Records (Arlington, VA: Information Resources Press, 1980).

29. Marr, T. G., Los Alamos National Laboratory, Los

Alamos, NM, personal communication, February

1989.

31. Marx, G.T, “I’ll Be Watching You,” Dissent

32:26-34, Winter 1985.

32. Menard v. Saxbe, 498 F. 2d 1017 (DC. Cir. 1974).

33. Monson, K.L., “Semiautomated Analysis of DNA

Autoradiograms,’ Crime Laboratory Digest 15:4,

1988.

34. Monson, K. L., Federal Bureau of Investigation,

Quantico, VA, personal communication, April 1989.

35. Moss, D. C., “DNA-The New Fingerprints,” ABA

Journal 70, May 1, 1988.

36. Mueller, L.D., University of California, Irvine, Irvine, CA, personal communication, August 1989.

37. National Crime Information Center, Minutes of the

Advisory Policy Board Meeting, St. Petersburg, FL,

Dec. 9-10, 1987.

39. New York State Forensic DNA Analysis Panel,

“DNA Report,” Sept. 6, 1989.

39. Nolan, K., and Swenson, S., “New Tools, New

Dilemmas: Genetic Frontiers,” Hastings Center

Report 18:5, 1988.

40. Paul v. Davis, 424 U.S. 693 (1976).

41. Peterson, J.L., testimony before U.S. Senate, Subcommittee on the Constitution, Committee on the

Judiciary, Mar. 15, 1989.

42. Price, M. E., “Searching for a New Paradigm,”

National Law Journal Aug. 7, 1989, pp. 13-17.

43. Pun, T., Trus, B., Grossman, N., et al., “Computer

Automated Lanes Detection and Profiles Evaulation

of One-Dimensional Gel Electrophoretic Autoradiography,” Electrophoresis 6:268-274, 1985.

44. Reeder, D.J., National Institute of Standards and

Technology, Gaithersburg, MD, personal communication, June 1989.

45. Simon, P., “Chairman’s Questions to the Panel,”

U.S. Senate, Subcommittee on the Constitution,

Committee on the Judiciary, Mar. 15, 1989.
138 ● Genetic Witness: Forensic Uses of DNA Tests

46.

47.

48.

49.

50.

51.

52.

Smith, B. C., U.S. Army Central Identification Laboratory, Ft. Shafter, HI, personal communication,

January 1989.

Tarlton v. Saxbe, 507 F.2d 1116 (D.C. Cir. 1974).

Technical Working Group on DNA Analysis Methods (TWGDAM), The Combined DNA Index System

(CODIS): A Theoretical Model, Federal Bureau of

Investigation, Quantico, VA, Oct. 15, 1989.

Thompson, W. C., and Ford, S., “DNA Typing:

Acceptance and Weight of the New Genetic Identification Tests,” Virginia Law Review 75:45-108,

1989.

Trubow, G., Watching the Watchers: The Coordination of Federal Privacy Policy, Project on Communication and Information Policy Options, No. 5

(Washington, DC: Benton Foundation, 1989).

U.S. Congress, Office of Technology Assessment, An

Assessment of Alternatives for a National Computerized Criminal History System, OTA-CIT-161

(Washington, DC: U.S. Government Printing Office,

October 1982).

U.S. Congress, Office of Technology Assessment,

Defending Secrets, Sharing Data: New Locks and

Keys for Electronic Information, OTA-CIT-31O (Washington, DC: U.S. Government Printing Office, October 1987).

53.

54.

55.

56.

57.

58.

59.

60.

U.S. Congress, Office of Technology Assessment,

Federal Government Information Technology: Electronic Record Systems and Individual Privacy, OTACIT-296 (Washington, DC: U.S. Government Printing Office, June 1986).

U.S. Congress, Office of Technology Assessment,

“Issues Relevant to NCIC 2000 Proposals,” staff

paper, Nov. 12, 1987.

U.S. Department of Health, Education, and Welfare,

Records, Computers and the Rights of Citizens:

Report of the Secretary’s Advisory Committee on

Automated Personal Data Systems, 1973.

United States Department of Justice v. Reporters

Committee for Freedom of the Press, No. 87-1379,

decided Mar. 22, 1989.

Webb, J.E., Commander, U.S. Army Central Identification Laboratory, Ft. Shafter, HI, personal communication, January 1989.

Weedn, V., Office of Armed Forces Medical Examiner, Armed Forces Institute of Pathology, Baltimore,

MD, personal communication, June 1989.

Westin, A. F., and Baker, M.A., Databanks in a Free

Society (New York, NY: Quadrangle/The New York

Times Book Co., 1972).

Whalen v. Roe, 429 U.S. 595 (1977).
Chapter 6

DNA Typing by Federal, State, and

Local Crime Laboratories

“DNA typing will not significantly lower the crime rate in America. At most, it will simply add

to the quality ethic that pertains to the process by which guilt is decided. But then, that is quite a lot in

itself. The criminal justice system needs all the help that it can get.”

John I. Thorton

Professor of Forensic Science

University of California, Berkeley

Chemical & Engineering News

Nov. 20, 1989
CONTENTS

Page

FBI INVOLVEMENT IN DNA TYPING . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . 141

STATE AND LOCAL CRIME LABORATORY INVOLVEMENT’... . . . . . . . . . . . . . 144

Crime Laboratories’ Views on FBI Role in DNA Testing . . . . . . . . . . . . . . . . . . . . . . . 146

Crime Laboratories’ Plans for DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147

Crime Laboratories Not Conducting DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147

Contracting for DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 148

Conducting DNA Testing Onsite . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 150

FINDINGS AND SUMMARY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .152

CHAPTER 6 REFERENCES . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .153

Boxes

Page

6-A. Previous Surveys on Forensic DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 142

6-B. Uses of Forensic DNA Tests Internationally . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145

6-C. American Society of Crime Laboratory Directors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 146

6-D. DNA Typing in Virginia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 151

6-E. The New York State Forensic DNA Analysis Panel . . . . . . . . . . . . . . . . . . . . . . . . . . . . 152

Tables

Page

6-1. Equipment Needs To Conduct DNA Typing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143

6-2. Operating Expenses for the FBI DNA Analysis Unit . . . . . . . . . . . . . . . . . . . . . . . . . 144

6-3. Ranking of Importance of DNA Typing to Crime Laboratories . . . . . . . . . . . . . . . . 146

6-4. Suggested FBI Roles in DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147

6-5, Crime Laboratory Involvement in DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 148

6-6. Crime Laboratory Plans To Conduct DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . 148

6-7. Crime Laboratory Plans To Contract for DNA Testing in the Future . . . . . . . . . . 148

6-8. Costs for Forensic DNA Testing by Private Laboratories . . . . . . . . . . . . . . . . . . . . . 149

6-9. Costs for Paternity DNA Testing by Private Laboratories . . . . . . . . . . . . . . . . . . . . . 149

6-10. Facilities Contracted With for DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149

6-11. Prescreening Tests . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149

6-12. Paying for DNA Testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 150
Chapter 6

DNA Typing by Federal, State, and Local Crime Laboratories

Since November 1987, when a Florida criminal

conviction based on DNA typing evidence received

national attention, State and local crime laboratory

interest in this technology has skyrocketed. (See

app. A for descriptions of additional cases.) Immediately following this case, crime laboratories around

the Nation began to explore their DNA typing

options. Almost all U.S. crime laboratories have

now heard of the technology. Many choose to

contract with private companies currently conducting DNA testing for forensic purposes. Several

others have taken the first steps necessary to provide

onsite capability for DNA typing. Some States have

enacted legislation requiring that certain groups of

convicted offenders submit a blood or saliva specimen to be placed in a databank (see ch. 5).

This chapter reports the results of a 1989 OTA

survey of State and local crime laboratories that built

on earlier surveys (box 6-A; see app. B for survey

instrument). Designed to determine the present and

future extent of DNA typing by crime laboratories,

the survey also evaluated the extent of onsite v.

offsite capability. The survey population was derived from the 1988 Federal Bureau of Investigation

(FBI) Directory of Crime Laboratories. The survey

was mailed to 298 laboratories between February

and May 1989. At least 1 survey from each of the 50

States was returned, along with surveys from the

U.S. Virgin Islands and Puerto Rico. Eight States

returned one questionnaire each for their entire

laboratory systems, reducing the original sample by

41; in total, 221 questionnaires were completed and

returned from the survey population of 257 (an 85

percent response rate).

In addition to discussing the results of the survey,

this chapter presents a brief overview of the FBI’s

involvement in DNA typing. Survey results on crime

laboratories’ views on the potential role for this

agency in DNA typing are analyzed in the context of

the projections of the FBI. The involvement of the

American Society of Crime Laboratory Directors

(ASCLD) in DNA typing is also described, as are

divergent approaches to forensic DNA analysis by

two States: Virginia and New York.

FBI INVOLVEMENT IN

DNA TYPING

The FBI, established in 1908, is the investigative

branch of the U.S. Department of Justice. Charged

with responsibility for investigating violations of

Federal law in criminal, civil, and security fields, the

FBI also oversees the National Crime Information

Center (see ch. 5) and offers training to law

enforcement officers and forensic scientists. FBI

facilities include 59 field offices throughout the

United States, the FBI Academy in Quantico, VA,

and the headquarters in Washington, DC.

The FBI Academy trains agents and other law

enforcement officers and also researches new methods in forensic science. The Forensic Science

Research and Training Center (FSRTC) of the FBI

Laboratory, opened in 1981 at the FBI Academy,

performs both long- and short-term research in the

areas of biochemistry, immunology, chemistry, physics, and polygraph (42 U.S.C. sec. 3744). Longterm projects usually investigate new theories or

technologies, while short-term projects often evaluate current methods for their value and reliability

(17). The mandated mission of FSRTC is to provide

quality research and training programs plus operational assistance in the forensic sciences to the FBI

and other Federal, State, and local law enforcement

agencies and crime laboratories (13).

With this goal in mind, FBI research scientists

began investigating DNA typing in early 1985. Their

involvement began with the cofunding of a project

with the National Institutes of Health to examine

rnitochondrial DNA from blood samples for ethnic

markers (13). Although not originally conceptualized as a method to examine DNA for identification

purposes, the FBI accelerated its efforts in this area

of research after the frost scientific papers on DNA

typing were published in 1985. A research scientist

was assigned in early 1986 to investigate the

potential of DNA technologies for forensic purposes. Site visits were made to private DNA testing

labs in the United States and the United Kingdom, as

well as to other institutions performing DNA research. In July 1987, the FBI decided to have a

research team at FSRTC develop DNA typing for

use in the headquarters’ laboratory (13).

–141–
142 ● Genetic Witness: Forensic Uses of DNA Tests

Box 6-A—Previous Surveys on Forensic DNA Testing

At least five surveys on forensic DNA testing have been done previously, and provide a gauge of how quickly

interest in DNA testing has increased. The first was conducted by the California Association of Crime Laboratory

Directors’ DNA Committee in September 1987. It was an informal poll given to members of the American Society

of Crime Laboratory Directors (ASCLD) present at the 1987 annual meeting in Ernmitsburg, MD. At the time of

the survey, levels of awareness and understanding of DNA typing among crime laboratory personnel were much

lower than current levels. Respondents were asked if they did serological testing, and if so, they continued with the

survey. Eighty-seven laboratories responded to the additional series of questions; 70 laboratories had discussed or

considered the feasibility of DNA typing, while 17 had not. When asked if their laboratory had formed an opinion

(a policy) on DNA typing, more than half (37) of the laboratories who had discussed the DNA issue had formed

a policy. Of those, 20 labs responded that DNA testing was valid as a routine tool, and that they might contract out

DNA typing. Seventeen felt that DNA typing was not yet appropriate for casework Of the 33 whose laboratories

had not yet formed an opinion on DNA typing, 13 felt DNA typing was not yet appropriate for casework and 5 felt

that it was a valid tool and that they might contract out DNA typing on selected cases.

A second small survey was conducted at a DNA workshop at the University of New Haven, CT, in spring 1988.

The results indicated that respondents were planning to implement DNA typing in collaboration with university

labs, blood banking centers, and DNA typing labs. This indicated that each forensic laboratory planned to implement

DNA typing in cooperation with a local collaborator, which could lead to a situation where labs would use a variety

of different approaches and techniques with no standardization of the methodologies. However, when asked if there

should be a standardized procedure, all respondents said one should be developed. According to the respondents,

the following aspects should be standardized: DNA extraction procedure, restriction enzyme used, electrophoresis,

Southern blotting, definition of probes, and data analysis. All those surveyed indicated there was a need for a

national DNA data center. Information that should be incorporated into such a database included restriction

enzymes, DNA standards, DNA probes, autoradiograms, DNA polymorphism population distributions, and DNA

typing results in digitized form.

In part to assess its projected workload for DNA testing, the FBI conducted a small survey at the September

1988 ASCLD annual meeting held at the FBI Academy in Quantico, VA. From a survey population of 168 crime

laboratory directors, 75 questionnaires were received (a response rate of 45 percent). Of those who responded, 34

crime lab directors representing 31 systems anticipated implementing some form of DNA typing by January 1990.

Four laboratories would not have an impact on the FBI’s workload, either because they were Federal labs, Canadian,

or already performing DNA typing onsite. Approximately 120 investigations had been referred to these laboratories

at that time. The remaining 27 laboratories that responded positively had submitted budget requests but had not yet

received approval. The FBI assumed that the 93 laboratory directors who did not respond were not planning to

implement onsite DNA testing, at the time alerting them to the possibility that much of this casework could be

referred to the FBI. The OTA survey, however, indicates that plans for onsite testing are more widespread than at

the time of the FBI survey.

Finally, two telephone surveys were conducted at court expense in early 1989. These telephone surveys of

crime laboratory directors and molecular biologists were introduced in the ease of State of Indiana v. Hopkins to

raise questions about the admissibility of DNA typing results. The “Survey of Members of American Society of

Crime Laboratory Directors” was responded to by 241 crime laboratories. Responses for the “Survey of Scientists

Regarding DNA Typing” were elicited from 215 members of the Molecular Biology and Genetics Section of the

American Society for Microbiology. Survey questions ranged from assessing whether DNA tests performed by

private laboratories were ready for casework to identifying potential scientific problems with DNA typing. (The

actual surveys and results were unavailable for review by OTA.)

SOURCES: ~lce of Teebnology Assessment 1990, based in part on California Association of Crime Laboratory Directors’ DNA committee,

“DNA Survey,” Report #2, Nov. 19, 1987; H. Lee and R. Gaensslea, “The Naxl for Standardization of DNA -ysis Methods

and a National DNA Database, ” paper prepared for the meeting “DNA Technology In Forensic Scienee,” Quantico, VA May

31-June 2, 1988; J. Kearne Y, Federti BUHUI of Investigation “FBI Survey at 16th Annual Symposium on (lime Laboratory

Developmen~” September 1988; and W.F. Rowe, “DNA Testing Not Ready for Court? A ‘I’ale of Two Surveys,” Yournal of

Forensic Sciences 34(4):803-805, July 1989.
Chapter t&DNA Typing by Federal, State, and Local Crime Laboratories . 143

Photo credit: Holly Gwin

Federal Bureau of Investigation Academy: Headquarters

of the Forensic Science Research and Training Center,

Quantico, VA.

By January 1988, FSRTC had implemented DNA

typing trials onsite. Personnel were trained and

given proficiency tests through December 1988, and

once the final validation process was completed, the

DNA Analysis Unit, located at the FBI’s headquarters facility, began accepting actual casework from

other crime laboratories. The first case was reported

in March 1989. A great deal of ongoing research at

FSRTC still supplements DNA typing casework at

the headquarters DNA Analysis Unit. Currently four

laboratory personnel at FSRTC are doing DNA

typing research and four others are involved in

training and the development of a proficiency testing

prograrn(13). The FSRTC spent 20percent ($104,200)

of its research and training equipment budget on

DNA typing and 36 percent ($143,200) of its supply

budget on DNA typing in fiscal year 1989 (13).

As of July 1989, the FBI had received 536 case

submissions consisting of 2,619 individual DNA

samples (11); by November 1989, the number of

cases had risen to over 1,000 (13). The FBI estimates

the cost per sample to be $98.50 (this figure includes

labor but not the costs for facility use) (8). (See table

6-1 for equipment needs to perform DNA testing.)

Monthly costs (excluding labor) have been estimated at $18,100 ($217,200 per year). However,

because the FBI expects to process 25 percent more

samples in the future, the annual amount has been

adjusted to $271,500 (table 6-2). The $217,200

figure was based on the workload of five technicians, while the $271,500 is based on a full staff

laboratory of seven technicians; currently there are

Table 6-l—Equipment Needs To Conduct DNA Typing

Approximate cost per item

Equipment item (dollars)

Autoclave (bench top) . . . . . . . . . . . . .

UV spectophotometer . . . . . . . . . . . . .

UV transilluminator . . . . . . . . . . . . . . .

Electrophoresis power supplies . . . . .

Electrophoresis tanks. . . . . . . . . . . . . .

Microfuge (general use) . . . . . . . . . . .

Microfuge (dedicated to radioactive

isotopes) . . . . . . . . . . . . . . . . . . . . .

Microliter pipettor (variable range) . . .

Water baths . . . . . . . . . . . . . . . . . . . . .

Vacuum centrifuge* . . . . . . . . . . . . . . .

Ultra-low temperature freezer . . . . . . .

Environmental rotary shaker* . . . . . . .

Vacuum oven* . . . . . . . . . . . . . . . . . . .

Gel photography equipment . . . . . . . .

X-ray film autoprocessor’ . . . . . . . . . .

Platform shaker* . . . . . . . . . . . . . . . . .

Benchtop radioisotope counter OR . .

Liquid scintillation counter . . . . . . . .

Radioactivity survey meter . . . . . . . . .

Intensifying screens (pair) . . . . . . . . . .

4,600

12,000

2,300

2,500 (minimum of 2)

400 (minimum of 4)

1,200

1,200

250

2,000 (2-3 required)

4,300

6,300

5,100

1,000

1,000

7,100

1,000

2,400

12,000

250

300 (5pairminimum)

● Denotes items considered desirable, but not absolutely necessary to

conduct DNA typing.

SOURCE: Federal Bureau of Investigation, 1988.

six technicians working in the DNA Analysis Unit

(13). At the moment, one technician can extract 25

to 30 samples per week. Based on a 48-week work

year, the FBI anticipates an annual processing

capability of 10,000 samples (8).

The FBI is transferring DNA typing technology to

State and local crime laboratories through collaborative research projects, technical training courses,

seminars, and publications (10). Scientists from

State and local crime laboratories can participate in

the Visiting Scientist program, through which forensic examiners learn DNA typing techniques (10).

Analysts from at least 16 crime laboratory systems

have participated in this program and 9 other

systems are scheduled to participate in fiscal year

1990. In addition, free training courses are offered

by FSRTC to personnel from State and local crime

laboratories. Courses run from one day to several

weeks. One-day courses are taught onsite by the FBI

scientists; a 4-week course held two times since

January 1989 has trained 60 students, and will be

offered four times in fiscal year 1990, training 120

more students (13).

Two FBI symposia on DNA typing have included

presentations by research scientists from academia,

private labs, and the international forensic science

community. (See box 6-B for information onuses of

forensic DNA typing in other countries.) In addition
144 ● Genetic Witness: Forensic Uses of DNA Tests

Table 6-2-Operating Expenses for

the FBI DNA Analysis Unit

Estimated cost per sample excluding labor

(10,000 samples per year) ................. $ 28.50

Estimated cost per sample including labor

(10,000 samples per year) . . . . . . . . . . . . . . . . . 98.50

Monthly costs (excluding labor) . . . . . . . . . . . . . . . 18,100.00

Yearly rests (with an estimated 25%

more samples) . . . . . . . . . . . . . . . . . . . . . . . . . . . 271,500.00

SOURCE: Federal Bureau of Investigation, 1989.

to these technology transfer mechanisms, the FBI

publishes Crime Laboratory Digest quarterly, which

has devoted several issues to DNA technology.

Following a suggestion at a June 1988 FBI

seminar on DNA technology, an FBI Technical

Working Group on DNA Analysis Methods

(TWGDAM) was established. It first met in November 1988, and held three meetings in 1989, with the

mission to evaluate DNA typing technologies used

in State and local crime laboratories. To date, FBI,

Lifecodes Corp. (a private company), and Canadian

methods have all been considered. The group

provides a forum for these labs to share information,

protocols, and ideas related to DNA typing (12). It

will also establish guidelines where appropriate

(16).

Thirty-one representatives from 16 laboratories in

the United States and Canada were chosen to serve

on TWGDAM, based on how close the labs were to

doing DNA typing. Initially, two representatives per

lab were selected, although this has since been

reduced to one per lab to allow other facilities to

participate. Two academics were also chosen, one as

a technical adviser for the polymerase chain reaction

(PCR) method and the other for the restriction

fragment length polymorphism (RFLP) technique.

Two TWGDAM subcommittees have been

formed. One is addressing database developments

and the other is considering quality control and

quality assurance issues. The database subcommittee developed a theoretical model that was

completed in October 1989. The FBI plans to create

a working prototype of the model, to use for pilot

studies with crime laboratories (4). The final report

on quality assurance was published in July 1989

(16). TWGDAM will not be running a proficiency

testing program. However, samples may be sent to

TWGDAM members who are using the FBI method

to measure the precision between laboratories.

Crime Laboratory Digest

DNA Implementation

Photo credit: Feobral Bureau of Investigation, Quantico, VA

An issue of the Crime Laboratory Digest devoted to

DNA typing.

STATE AND LOCAL CRIME

LABORATORY INVOLVEMENT

Since the 1920s, when the first U.S. crime

laboratories were established in Los Angeles and

Chicago, they have proliferated across the country.

Over half of those now operating opened their doors

after 1970, often through Law Enforcement Assistance Administration funding (15). Currently, more

than half of the crime laboratories in the United

States provide at least some forensic serology

services (2). The OTA survey of State and local

crime laboratories revealed a wide range of efforts in

DNA typing. Each State and local system has set up

a crime laboratory uniquely suited to their needs.

More often than not, DNA typing has become apart

of those needs (box 6-C).

The number of nonclerical staff members in a lab

ranged from 1 to 160, with an average staff size of

22. The OTA survey found that annual budgets

ranged from $10,000 to $12 million, with an average

of $1,269,000. It should be noted that 18 percent of
Chapter 6-DNA Typing by Federal, State, and Local Crime Laboratories ● 145

Box 6-B—Uses of Forensic DNA Tests Internationally

An informal OTA survey in January 1989 of 40 countries found that at least 15 have implemented or are

exploring forensic applications of DNA tests1 with most expecting to perform DNA typing of forensic samples in

late 1989 or 1990. Two-the Republic of Korea and Yugoslavia-reported that such use of DNA identification was

not planned. South Africa indicated that DNA typing is used only for medical applications at present, but embassy

staff did not say whether this might be broadened to forensic uses. Yugoslavia also reported that such tests are used

for medical applications.

The extent to which DNA typing technologies have been used abroad varies. In the United Kingdom, where

forensic applications of DNA typing originated, single-locus and multilocus approaches have been fully accepted

for criminal, paternity, and immigration casework Over the past two years, Norway has gradually begun to use

DNA typing in selected penal and civil cases. In other countries, DNA profiling is in an early, exploratory phase,

with law enforcement units developing suitable systems and, in particular, collecting population data. In 1988, for

example, Finland replaced traditional genetic human leukocyte antigen (HLA) typing for paternity cases with

DNA-based profiling, which is now routinely used; DNA identification for criminal offenses has been on a selective

basis.

The Israeli police intend to use DNA typing on a routine basis, and as of February 1989 were beginning trials

on case samples. The Main Office of the Polish police and the Polish Academy of Sciences are conducting research

on DNA typing for forensic applications and anticipate field applications at the end of 1989 for selected rape and

murder cases. Explorations into DNA typing for paternity purposes in Poland has been discontinued due to lack of

funding. In the State of South Australia, restriction fragment length polymorphism analysis is used for paternity

testing, and polymerase chain reaction has been used for crime work Two of New Zealand’s three forensic

laboratories plan to be performing DNA analysis by early 1990. Several countries, while currently in the

development phase, have contracted with commercial laboratories on a limited basis.

Full international cooperation that would result in standardization and a coordinated investigative databank,

as with some current National Crime Investigation Center files (see ch. 5), appears beyond reach at the moment.

On the one hand, close coordination between the Royal Canadian Mounted Police and the Federal Bureau of

Investigation will likely lead to effective data sharing from the outset-especially since the FBI anticipates its

system eventually will become the de facto system in the United States. On the other hand, in anticipation of a

unified European Community in 1992, officials of Denmark, Italy, the Netherlands, the United Kingdom, and

Federal Republic of Germany met and agreed to a series of issues pertinent to standardization, including a

designated restriction enzyme (different from the United States system) and a common probe. Nevertheless,

although current technologies and applications appear to have advanced too far for international standardization for

the present, the situation is likely to change as future technical advances are adopted. In the interim, the Federal

Government could facilitate dialogue and encourage cooperative efforts leading toward a system amenable to DNA

identification among, not just within, international criminal justice entities.

IAUSX CUIM@ Finland, Ind@ Irelan~ Israel, Italy, Japa~ New Zealand, Norway, Poland, SWed~ s~-1~ Ufitd KM@ou

and West Oermany.

SOURCE: 0t31ce of Technology Assessment 1990.

those surveyed did not respond to this question, The remainder said that DNA typing was “someoften because they are covered under a State budget.

In addition, some who responded may have given

the total State budget, which would inflate their

response and hence the average. And some may have

included staff salaries, while others may not have.

Regardless of whether the responding crime

laboratory was making plans to do DNA typing

onsite, 78 percent of those surveyed said that

DNA typing is very important to develop in order

to advance the mission of their crime laboratory.

what important, but only an additional technology in

an array of existing technologies” (15 percent), or

that it was ‘not very important’ to their laboratory’s

mission (5 percent) (table 6-3). Of the latter, most

noted the response was prompted by very narrow

forensic duties (e.g., drug analysis or arson investigation).

Respondents were asked to list what they perceived as the most important issues regarding DNA

typing. The issues cited most often were standardi-
146 . Genetic Witness: Forensic Uses of DNA Tests

Box 6-C—American Society of Crime Laboratory Directors

Formed in January 1974, the American Society of Crime Laboratory Directors (ASCLD) is the national

professional organization of crime laboratory administrators. Its mission is to use management practices to improve

crime laboratory operations. Officers are elected by the 15-member Board of Directors. The group’s purposes are:

. to promote and foster the development of laboratory management principles and techniques;

● to acquire, preserve, and disseminate information related to the utilization of crime laboratories;

● to maintain and improve communications among crime laboratory directors;

. to promote, encourage, and maintain the highest standards of practice in the field of crime laboratory

services;

● to promote an increase in the effective utilization of crime laboratory services;

. to foster an increase in the effective utilization of crime laboratories in the criminal justice system;

. to foster the continuous improvement of the quality of services offered by the crime laboratory; and

● to offer advisory and consultant services in the forensic sciences in support of the criminal justice system.

ASCLD sponsors programs for both proficiency testing and laboratory accreditation on a voluntary basis.

Annual meetings are scheduled to coincide with the FBI’s yearly crime laboratory development symposiums. In

recent years, technical updates on DNA analysis have been given at the meetings. The first ASCLD position

statement on DNA typing, adopted at the May 1988 Board of Directors meeting, stated that “DNA typing is an

additional tool in the characterization of biological evidence in criminal investigations. It must be recognized that

this procedure is only one part of the scientific analysis of evidence.” At the May 1989 meeting, the organization

formulated another policy statement on DNA typing, in which appropriate quality control and quality assurance

measures and a common database system were identific as important. The establishment of a national DNA

database system using the FBI’s RFLP analysis program was supported as were implementation guidelines to help

transfer DNA typing to State and local crime laboratories. In September 1989, ASCLD endorsed the TWGDAM

quality assurance guidelines. Finally, ASCLD believes it has both a duty and a responsibility to establish standards

for the forensic science community and cites its prior experience in establishing quality assurance programs through

its national crime laboratory accreditation program (see ch. 3).

SOURCES: Oi%ceof Technology Assessmen~ 1990, based on “ASC!LD DNA Statemen~” adopted by the ASCLD Board of Directors, May

3, 1989; American Society of Crime Laboratory Directors, pampblet.

zation of DNA typing methods, courtroom approval Table 6-3-Ranking of Importance of DNA Typing and acceptance, proper training of laboratory per- to Crime Laboratories

sonnel, establishment of a databank, quality assurance, and quality control. Other responses pointed to Question la: Do you believe DNA typing is very important, issues of developing population statistics, profi- somewhat important, or not very important to the mission of your

ciency testing, costs and finding, continued research

and development of methods, implementation and

availability of the technology to local laboratories,

certification, equipment needs, and confidentiality

of results. It is clear that both standardization of the

DNA typing process and its courtroom acceptance

are of great concern to crime laboratories.

Crime Laboratories’ Views on

FBI Role in DNA Testing

A large majority of respondents (96 percent)

indicated that research (methods development and

evaluation) is an appropriate role for the FBI in DNA

testing (table 6-4). Training is also seen by a large

majority (95 percent) as a role for the FBI, as is the

maintenance of DNA data files (88 percent). Other

suggestions were for the FBI to be used as a

crime laboratory?

Number Percent

of labs of labs

Very important to develop for

advancing the mission of

this crime laboratory . . . . . . . . . . . 173 78

Somewhat important, but only an

additional technology in an

array of existing technologies. . . . 34 15

Not very important to the mission of

this crime laboratory . . . . . . . . . . . 10 5

No answer . . . . . . . . . . . . . . . . . . . . . 4 2

aThe code number of the question in the survey instrument (see app. B).

SOURCE: Office of Technology Assessment, 1990.

reference library (77 percent), do casework for State

and local laboratories (63 percent), provide proficiency samples for quality assurance (55 percent),

define standards (48 percent), and certify lab personnel (24 percent) (table 6-4). (The FBI does plan to
Chapter 6-DNA Typing by Federal, State, and Local Crime Laboratories . 147

Photo credit: Kevin O’Connor

The crime laboratory of the Metro-Dade Police Department

in Miami, FL.

provide some level of proficiency testing to those

laboratories using the FBI’s DNA typing method

(4,13 ).) Other suggested roles include providing

probes and expert testimony, being available for

onsite troubleshooting, offering refresher courses,

assisting in complex cases, having staff available

when labs start up, and publishing updates in

methods and protocols. For the issue that many

believe is the most pressing one facing forensic

applications of DNA typing-that of defining standards-a minority of crime laboratories responding to

the OTA survey (48 percent) proposed a role for the

FBI. Moreover, some laboratories expressed serious

concern about FBI involvement in this issue. They

indicated that professional groups and forensic

science associations should handle this, with the FBI

helping to coordinate. The FBI’s stated position on

standards is that they will facilitate their establishment through the consensus building process of

TWGDAM (11). (Some respondents to the survey

may not have understood this distinction and may

have taken the survey question to mean FBImandated standards, hence the lower affirmative

response and perhaps the small negative response.)

As discussed earlier, the FBI is already doing

many of the things that were cited by respondents as

appropriate for the agency. Substantial research into

methods development and evaluation has been and

is currently underway at FSRTC. The FBI laboratoTable 6-4-Suggested FBI Roles in DNA Testing

Question 4a: What role, if any, do you see for the FBI in DNA

testing? (Please check all that apply).

Percent of labs

Role Yes No No answer

Research (methods development

and evacuation) . . . . . . . . . . . . . . . 96b 2 2

Training . . . . . . . . . . . . . . . . . . . . . . . 95 3 3

Casework for State and

local labs . . . . . . . . . . . . . . . . . . . . 63 34 2

Maintenance of centralized

DNA files . . . . . . . . . . . . . . . . . . . . 88 10 2

Reference library . . . . . . . . . . . . . . . . 77 20 3

Define standards . . . . . . . . . . . . . .. .48 49 2

Certify laboratory personnel . . . . . . . 24 73 2

Provide proficiency samples

for quality assurance . . . . . . . . . . . 55 43 2

Other . . . . . . . . . . . . . . . . . . . . . . . . . . 8 89 2

aThe code numkr of the question in the survey instrument (see app. B.).

bpermntag= may not add to 100 due to rounding.

SOURCE: Office of Technology Assessment, 1990.

ries have devoted considerable resources to training,

and casework has been accepted since late 1988.

Furthermore, several of the roles cited by the

respondents are still under discussion. The possibility of a national database system is being researched

(see ch. 5). Policies toward mandatory proficiency

testing, defining standards, and lab personnel certification programs are still undefined.

Crime Laboratories> Plans for DNA Testing

Considering how recently DNA testing has

been introduced, interest and involvement in this

new technology at the State and local crime

laboratory level are extraordinary. The survey

found that almost half of the laboratories (47

percent) presently contract with and have sent

samples to either a private laboratory or the FBI,

while 35 percent are not currently using DNA

testing. Interest in having onsite capability for DNA

testing is high among respondents (46 percent).

Although more labs are scheduled to come on-line

shortly, at the time of the survey only one was doing

DNA tests onsite (table 6-5).

Crime Laboratories Not Conducting

DNA Testing

Nearly half those not currently conducting DNA

testing have plans to start it in the next 1 to 2 years

(24 percent have plans or funding to contract for it

in the next 12 months, and 22 percent expect to start

in the next 2 years). About one-fifth (21 percent) of

those not conducting DNA testing have no plans to
148 . Genetic Witness: Forensic Uses of DNA Tests

Table 6-5-Crime Laboratory Involvement

in DNA Testing

Photo credit: Robyn Nishimi

Students in forensic DNA analysis training course at the

Forensic Science Research and Training Center, FBI

Academy, Quantico, VA.

do so in the next 1 to 2 years, and 33 percent of those

surveyed did not answer the question, probably

indicating the same situation (table 6-6).

When asked if they have provisions to contract

out DNA testing in the future, over one-third of the

respondents (37 percent) said they will contract as

necessary. Another 34 percent said that they did not

intend to do so. A small number of labs (13 percent)

have provisions, but may not be able to due to cost

(table 6-7).

Contracting for DNA Testing

As of June 19891, three private companies conducted DNA testing on a contract basis (Cellmark

Diagnostics, Forensic Science Associates (FSA),

and Lifecodes Corp.). Costs for the services of the

three companies are presented in tables 6-8 and 6-9.

Cellmark Diagnostics established its Germantown, MD, laboratory in September 1987. It is a

business unit of Imperial Chemical Industries Americas, Inc., which in turn is a subsidiary of the

British-owned Imperial Chemical Industries PLC.

Cellmark Diagnostics has the exclusive worldwide

license to the “DNA fingerprinting”sM technique

(based on RFLP analysis) developed by Dr. Alec

Jeffreys in England and first used in the Leicester

Crown Court case (see box 5-B). Cellmark has a

technical staff of 20 (9). The estimated processing

time is 4-8 weeks, depending on the nature of the

evidence (5).

Question 8a: Have you plans for utilizing or do you currently utilize

forensic DNA testing? (Please check all that apply).b

Percent of labs

Number No

Use of testing of labs= Yes No answer

Presentiy contracting . 104 47 50 3

DNA tests onsite . . . . . 1 0.5 97 3

Have plans for onsite

DNA testing . . . . . . 101 46 52 3

We do not currently

use. . . . . . . . . . . . . . 78 35 62 3

aThe code number of the question in the survey instrument (%e Wp. B).

bper~ntag% may not add to 100 due to rounding.

CNumber of labs cannot ~ tot~ed b~ause r~pon&nts were asked tO

check all responses that may apply.

SOURCE: Office of Technology Assessment, 1990.

Table 6-6-Crime Laboratory Plans

To Conduct DNA Testing

Question 9a: If you are not currently conducting DNAtesting either

onsite or contracting, do you have plans or funding to contract for

DNA testing?

Plans for testing Number of labs Percent of labs

In the next 12 months . . . . . . 41 24

In the next 24 months . . . . . . 37 22

Neither . . . . . . . . . . . . . . . . . . 36 21

No answer . . . . . . . . . . . . . . . . 57 33

aThe code number of the question in the survey instrument (see app. B).

SOURCE: Office of Technology Assessment, 1990.

Table 6-7--Crime Laboratory Plans To Contract for

DNA Testing in the Future

Question 10a: Do you have provisions to contract out DNA testing

if necessary in the future?

Number Percent

Plans to contract of labs of labs

Yes, we will contract out as

necessary . . . . . . . . . . . . . . . . . . . 63 37P

No, we do not intend to contract . . . 58 34

Yes, we may have provisions, but

cost may prevent us from

contracting . . . . . . . . . . . . . . . . . . . 22 13

No answer . . . . . . . . . . . . . . . . . . . . . 29 17

aThe c~e number of the question in the survey hMtUMOnt (See app. B).

bperantag= may not add to 100 due to rounding.

SOURCE: Office of Technology Assessment, 1990.

FSA is a small firm in Richmond, CA, that

processes forensic samples using the PCR method

under a licensing agreement with Cetus Corp. Cetus

received a patent for the PCR method in 1987 and
Chapter 6-DNA Typing by Federal, State, and Local Crime Laboratories ● 149

Table 6-8-Costs for Forensic DNA Testing by Private Laboratoriesa

Forensic Science

Service Cellmark Associates Lifecodes

DNA testing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . $490/sample $1,500/case $325/sample

Processing isolated DNA sample . . . . . . . . . . . . . . . . . . . . $350/sample Not available $200/sample

Expert witness (daily rate + expenses) . . . . . . . . . . . . . . . $1,000/day (Ph.D.) $100-$ 125/hr. $750/day

$750/day (non-Ph.D.)

Processing of insufficient sample . . . . . . . . . . . . . . . . . . . . $210/sample $450/sampie $125/sample

alnformation current as of June 1989.

SOURCE: Office of Technology Assessment, 1990.

markets a PCR HLA DQcx- 1 test kit for use by crime

laboratories.

Established in 1982, Lifecodes Corp. is located in

Valhalla, NY. They began doing research and

development into the RFLP method in 1982, and

started doing forensic testing commercially in early

1987 (3). Currently employing a staff of six forensic

scientists, Lifecodes estimates a turnaround time for

processing samples to be 2-3 months (18). Lifecodes

will be marketing a test kit in early 1990 that will

contain all the necessary reagents for processing a

sample from DNA extraction to final hybridized

Southern blot (14). This kit will follow the FBI

protocol, and is viewed by some as significant on

two counts: as an indication that there will be a ready

supply of testing materials for crime laboratories,

and because it indicates the support by a company

that uses its own method for a national standardized

protocol based on the FBI method (11). Additionally, one of Lifecodes’ high priority development

issues is to develop a test kit that will use nonradioactive probes (14).

As previously mentioned, 47 percent of laboratories have contracted for forensic DNA analysis.

When asked which facilities they had contracted

with, most laboratories surveyed (65 percent) had

dealt with Lifecodes, nearly half (48 percent) with

Cellmark, one-ftith (21 percent) with FSA, and 22

percent with other facilities (including the FBI)

(table 6-10). It should be noted that users do not

formally contract with the FBI, their services are

available at no charge to law enforcement agencies

in connection with their investigation of criminal

(not civil) matters (1 1). Also, crime laboratories can

contract with more than one facility. Of those who

listed the number sent to each facility, 277 cases

were sent to Lifecodes, 191 to Cellmark, 45 to FSA,

and 40 to other facilities. Prior to sending specimens

out to private laboratories, nearly three-quarters (74

percent) conduct a prescreening test (table 6-11).

Table 6-9-Costs for Paternity DNA Testing

by Private Laboratoriese

Service Cellmark Lifecodes

DNA testing of

whole blood . . . . . . . . . . . . $200/sample $150/sample

DNA testing of nonblood

sample . . . . . . . . . . . . . . . . $350/sample $300-450/sample

Expert witness (daily

rate + expenses . . . . . . . . . $500/day $750/day

Processing of insufficient

sample . . . . . . . . . . . . . . . . $210/sample $50-125/sample

a

lnformation current as of June 1989.

SOURCE: Office of Technology Assessment, 1990.

Table 6-10-Facilities Contracted With

for DNA Testing

Question 12a: Which facilities have you contracted with?

Number of Percent of

Facility labs labs

Cellmark . . . . . . . . . . . . . . . . . . . . ..51 48

Forensic Science Associates . . . . . . 22 21

LifeCodes . . . . . . . . . . . . . . . . . . . . . . 70 65

Other . . . . . . . . . . . . . . . . . . . . . . . . . . 23 22

aThe code number of the question in the survey instrument (see app. B.).

SOURCE: Office of Technology Assessment, 1990.

Table 6-11—Prescreening Tests

Question 13a: When you send specimens out to private laboratories, do you conduct a prescreening test on them beforehand?

Prescreening Number of labs Percent of labs

Yes . . . . . . . . . . . . . . . . . . . . . 80 74

No . . . . . . . . . . . . . . . . . . . . . . 21 19

No answer . . . . . . . . . . . . . . . . 7 7

aThe c~e number of the question in the survey instrument (See app. B).

SOURCE: Office of Technology Assessment, 1990.

Respondents were asked to estimate the number

of samples they anticipated sending out yearly. The

results show that the expected usefulness of contract

DNA testing varies widely. Estimates of the number

of annual samples ranged from 2 to 3,000 with the

average being 120. Over half the laboratories (65
150 . Genetic Witness: Forensic Uses of DNA Tests

percent) plan to restrict or institute a formal protocol

to determine the types of crimes that DNA testing

can be used on. When asked what criteria they would

use to determine these crimes, cost, the failure of

conventional methods, and a prescreening test were

mentioned. Others said they planned to follow the

FBI’s criteria. Respondents indicated that homicide,

sexual assault, violent crime, and serial crimes all

merited use of DNA typing. Hit-and-run accidents as

well as robbery were also cited. The use of DNA

testing would be warranted on hit-and-run accidents

that involve serious bodily injury or death, such as

when a pedestrian or a child on a bicycle is struck.

The technology would have no utility in a “property

damage” hit-and-run accident (11).

In contrast to the large number of facilities that

have contracted for forensic DNA testing, budget

proposals for onsite DNA typing have not been

submitted by many crime laboratories. Of the 104

laboratories contracting for outside services, nearly

half (49 percent) have not submitted budget provisions to do DNA analysis onsite. This can be

compared with the 38 percent that have submitted a

budget but have not yet had it approved (table 6-12).

The survey revealed a wide variation in budget

requests. (As noted earlier, numbers may be inflated

by budget requests from entire State systems.)

Budget requests for DNA analysis in State and local

crime laboratories range from $5,000 to $4.6 million

(for a State system).

Many crime laboratories have devised innovative

financing plans for DNA typing. For example, one

State plans to use some of the proceeds from the

State cigarette tax (6). Another growing source of

funding for State and local crime laboratories is

money, goods, and property confiscated from drug

dealers (l). Problems in financing crime laboratories, in general, have arisen in other States. In one,

local county law enforcement agencies are now

paying for their use of the State crime laboratories,

even though they never had to previously (7). These

labs will run out of funds unless the counties pay up.

Although this particular situation is not directly

related to DNA typing costs, similar situations could

arise as States try to raise funds necessary for DNA

analysis.

Table 6-12—Paying for DNA Testing

Question 11a: If you are not conducting DNA analysis onsite, have

you submitted budget provisions to do so that have not yet been

approved?

Budget submitted Number of labs Percent of labs

Yes . . . . . . . . . . . . . . . . . . . . . 41 38

No . . . . . . . . . . . . . . . . . . . . . . 53 49

No answer. . . . . . . . . . . . . . . . 14 13

aThe code number of the question in the survey instrument (W3 app. B).

SOURCE: Office of Technology Assessment, 1990.

Conducting DNA Testing Onsite

The cost of submitting samples to private laboratories has been cited as the reason for pursuing onsite

DNA testing by some members of the crime

laboratory community. Although, for facilities without a large case load, it could be more cost-effective

to continue contracting. It is apparent that there will

soon be a score of crime labs conducting DNA tests

onsite. Some respondents have established facilities,

but have not yet begun to accept casework. For the

purposes of this survey, OTA defined “labs conducting DNA testing onsite” as those actually

accepting casework. Although several were close to

starting up, only one laboratory was actually conducting DNA testing onsite at the time of the survey.

Located in Norfolk, VA, the laboratory began

casework on May 1, 1989 (box 6-D)2

. The annual

budget in that section is $100,000, and currently it

has two forensic scientists performing DNA testing.

An increase in professional staff positions is expected, and staff handling DNA samples required

training above and beyond their academic and work

experience. The new positions also required training

in molecular biology and genetics, and courses at the

FBI Academy.

When ranking factors important in the decision to

pursue DNA typing onsite, the Virginia laboratory

indicated that evidence control was most important,

that having state-of-the-art technology was important, that the cost of contracting out was not very

important, and that the least important factor was

having a short turnaround time.

Although the possibility of a noncrirninal justice

agency using the DNA typing facility for other

purposes has been proposed in some States, this was

not the case in Virginia. No noncriminal justice

agencies were planning to use the crime laboratory

%ecause confidentiality was ensured in the survey, permission to disclose the laboratory’s identity was received from Paul Ferrara of the Virginia

Bureau of Forensic Science.
Chapter 6-DNA Typing by Federal, State, and Local Crime Laboratories ● 151

Box 6-D—DNA Typing in Virginia

In May 1989, Virginia became the first State in the Nation to conduct onsite DNA testing. Serving all law

enforcement agencies in the State, all prosecuting attorneys, and the State medical examiner, the Bureau of Forensic

Science processes over 60,000 cases a year. The Bureau began discussions on a State DNA testing facility in 1987,

and in spring 1987, a representative of LifeCodes Corp. visited the headquarters facility in Richmond, VA, to

propose a l-year technology transfer program. Under the terms of the program, selected Virginia laboratory

personnel received 4 weeks of training at the Lifecodes facility in New York to learn DNA typing procedures and

quality control measures, and take a proficiency test. Having made a commitment to training in DNA typing

procedures, the Bureau requested $85,000 for January to July 1988 to purchase the needed equipment. An additional

request of $206,000 was made for July 1988 to June 1990. Both budget requests were granted in full by the Virginia

State Legislature. A budget request for the 1990 to 1992 biennium for $1,050,000 is pending.

DNA testing was deemed admissible in the court system of Virginia after it was submitted as evidence in the

Timothy Spencer case (see ch. 4), In March 1989, the Governor signed legislation calling for mandatory samples

from all convicted sex offenders. Currently, the State has 2,100 incarcerated sex offenders. Until money is received

to create a databank, samples will be stored and, as of July 1989, all convicted sex offenders have been providing

samples that will be stored until funding to perform these tests is available. The Tidewater Regional Forensic facility

in Norfolk was chosen to be Virginia’s first DNA typing laboratory. It has capacity of 300 to 400 cases per year.

Turnaround time for processing samples is currently 10 to 12 weeks. It is staffed by two scientists (with a third

planned) and one technician. In addition to the Lifecodes trainin

the FBI.

g, the scientists have also received training from

It is important to note also that the Virginia Bureau of Forensic Science has recently decided to switch from

the Lifecodes system and instead has adopted the FBI protocol for DNA testing. Although both systems rely on the

same technical foundation, the step was taken by Virginia in an effort to foster and promote standardization of

methods (important for a national databank) among the first forensic laboratories performing DNA analyses. The

Virginia Bureau of Forensic Science also has adopted the TWGDAM guidelines for quality assurance.

SOURCE P. l?- personal ccmmmnications and presentation at “International Symposium on the Forensic Aspects of DNA Am#ysis,”

Quantico, VA, June 22,1989.

Photo credit: Robyn Nishimi

for paternity, child support enforcement, or missing

persons. Virginia’s crime laboratory is creating

DNA data files at this time for suspects under

investigation. These particular files will be maintained at the State level, and Virginia is working

with the FBI on a pilot project to create a national

DNA databank. Any DNA testing material not

specifically related to an ongoing investigation will

be stored as autoradiograms, electronically captured

prints, or membranes. Virginia intends to restrict the

types of crimes DNA testing can be used on.

Not all State and local crime laboratories will be

able to implement DNA typing quite as smoothly,

although some, such as New York, have planned

extensively (box 6-E). Virginia’s experience is also

unique in the general lack of controversy about the

privacy issues involved. In addition, money for the

program was approved by the State legislature with

relative ease. Nevertheless, the OTA survey indiScientist at the Tidewater Regional Forensic Laboratory in cates that crime laboratories are moving rapidly

Norfolk, VA, a laboratory of the Virginia Bureau of Forensic

Science.

toward onsite DNA testing regardless of potential

controversies.
152 ● Genetic Witness: Forensic Uses of DNA Tests

Box 6-E—The New York State Forensic DNA Analysis Panel

In July 1988, the State of New York formed a panel to assess issues surrounding forensic DNA testing before

implementing such procedures. The panel consisted of prosecutors and defense attorneys, scientists, policymakers,

legal scholars, and experts in law enforcement. In September 1989, the panel released its report on DNA testing.

Included were its recommendations for a program to implement DNA testing in New York.

Scientific issues covered in the report included a discussion of the limits of traditional identification techniques,

problems associated with the existing technologies and population studies, and quality control issues. The legal

section covered national court rulings on DNA admissibility, as well as the different standards that should be applied

when DNA results are admitted for inclusionary v. exclusionary purposes. Concerns about private and public

laboratories’ procedures were highlighted in the policy issues section. Finally, the report laid out a model program

for forensic DNA testing implementation in New York State.

Rather than have each State and local laboratory in New York implement DNA typing on their own, the report

recommended that a statewide DNA network be created. This network would eventually be served by at least three

regional forensic DNA testing laboratories. Coordination on issues such as quality assurance, quality control, and

safety would occur for the laboratories. In addition, there would be an accreditation process for both public and

private forensic DNA typing laboratories operating in the State.

Two advisory bodies would oversee the operations of the network-an advisory committee that would

establish uniform standards, and a scientific review board to assist the courts in evaluating the technologies that were

used in specific cases. Members of the scientific review board could serve as expert advisers to the courts if

necessary. The report acknowledged that many complex issues are associated with the creation of a DNA databank.

If the privacy concerns were appropriately addressed, the report recommended legislation requiring those convicted

of violent sex crimes or other designated offenses to give DNA specimens. It also recommended that the State begin

preliminary developmental work to overcome any technical problems involved in creating such a databank. The

innovative approach to implementation of forensic DNA analysis taken by the State of New York might enable them

to avoid future problems that could have arisen in the absence of such a report.

SOURCE: OffIce of Technology Assessmen~ 1990, based onDNA: Report o~llew York Wzre Forensic DNA AnalysisPanel, Sept. 6, 1989.

FINDINGS AND SUMMARY are used by the FBI to transfer DNA typing

technologies to State and local crime laboratories.

Although DNA analysis has only been in use in When these labs were asked about the appropriate

the U.S. criminal justice system for a short time, it

has been quickly incorporated into the array of

investigative biological technologies used by State

and local crime laboratories. A 1989 OTA survey of

221 crime laboratories found that over three-quarters

(78 percent) believe DNA typing is very important

to their mission. Nearly half (47 percent) were

contracting for this service with an outside facility,

and 46 percent have plans to implement onsite DNA

testing. OTA found a diversity in crime laboratory

budgets and staff size. Yet while some systems will

be able to finance onsite DNA typing facilities,

others may not even be able to cover the costs of

contracting. However, if the use of DNA testing for

forensic purposes continues to increase at the

present rate, it is not inconceivable that all crime

laboratories will reach a point where access to

DNA typing will be essential.

The FBI DNA Analysis Unit began accepting

casework in December 1988. Several mechanisms

roles for the FBI, defining standards (48 percent) and

providing certification for laboratory personnel (24

percent) were ranked the lowest. Also, while it is

clear that the crime laboratories feel standards

should be set, who should set them is not at all clear.

A large majority of crime laboratories (95 percent) said that DNA results should be incorporated

into a database for exchange among law enforcement agencies. (Efforts are currently under way in

the Federal Government (see ch. 5) to create such a

database.) In addition, a number of States have

already passed legislation requiring blood or saliva

samples from convicted sex offenders.

Three companies were providing DNA testing on

a contract basis at the time of the OTA survey. OTA

found that laboratories anticipated sending out

anywhere from 2 to 3,000 samples annually in the

future. Nearly two-thirds of the crime labs (65

percent) will restrict or institute a formal protocol to
Chapter 6-DNA Typing by Federal, State, and Local Crime Laboratories ● 153

determine which crimes are appropriate for DNA

testing. Of the 104 laboratories contracting for tests,

nearly half (49 percent) have not submitted budget

provisions to do their own DNA analysis onsite.

Laboratories can continue contracting or use the FBI

DNA Analysis Unit at no cost. It is unclear if the FBI

will be able to handle the case load of those labs.

At the time of the survey, OTA found only one

facility conducting onsite DNA typing. Many others

were nearly ready to accept casework, however, and

in the next few years large numbers of crime

laboratories will probably be conducting DNA

typing onsite. It would be helpful if issues such as

Standardization and courtroom approval and acceptance

two issues viewed as important by survey respondentscould be settled prior to their coming on-line with

DNA typing.

CHAPTER 6 REFERENCES

1.

2.

3.

4.

5.

6.

Associated Press, “State’s Top Cop Wants Drug

Money to Pay for New Crime Lab,” June 22, 1989.

Bashinski, J. S., and Fisher, B., “Methods of Genetic

Marker Typing: A Survey of the Current State of the

Art,” American Academy of Forensic Sciences,

Colorado Springs, CO, 1988.

California Association of Crime Laboratory Directors, “DNA Committee Report,” Nov. 19, 1987.

Castonguay, R.T, Federal Bureau of Investigation,

Washington, DC, personal communication, April

1989.

Cellmark Diagnostics, Forensic Testing Facts, November 1988.

Conrad, D., Associated Press, ‘‘State Police Moving

Toward Genetic Fingerprints,” July 7, 1989.

7.

8.

9.

10.

11.

12.

13.

14.

15.

16.

17.

18.

Edwardsen, E., Associated Press, “Counties to Pay

Up for State Police Lab Work,” July 5, 1989.

Eubanks, B., “DNA Operational Up-Date,” paper

presented at the American Society of Crime Lab

Directors Board of Directors Meeting, Quantico, VA,

May 2, 1989.

Forman, L., Cellmark Corp., Germantown, MD,

personal communication, September 1989.

Hicks, J.W., Federal Bureau of Investigation, testimony before U.S. Senate, Subcommittee on the

Constitution, Committee on the Judiciary, Mar. 15,

1989.

Hicks, J.W., Federal Bureau of Investigation, Washington, DC, personal communication, August 1989.

Kearney, J., “Summary of the First Meeting of the

Technical Working Group on DNA Analysis Methods,” Crime Laboratory Digest 15(4), October 1988.

Kearney, J., Federal Bureau of Investigation, Quantico, VA, personal communications, April, August,

October, and December 1989.

Page, L. A., Lifecodes Corp., personal communication, November 1989.

Peterson, J., “The Crime Lab,” Thinking about the

Police: Contemporary Readings (New York NY:

McGraw Hill, 1983).

Technical Working Group on DNA Analysis Methods (TWGDAM), Quality Assurance Subcommittee,

“Guidelines for a Quality Assurance Program for

DNA Restriction Fragment Length Polymorphism

Analysis,” Crime Laboratory Digest 16(2):41-59,

April-July 1989.

U.S. Department of Justice, Federal Bureau of

Investigation, FBI Academy, Forensic Science Research and Training Center, Annual Report, 1988.

Winkler, J.K., Lifecodes Corp., personal communication, April 1989.
Appendixes
Appendix A

Reported Uses of DNA Testing in Criminal

Investigations and Proceedings

This appendix lists reported uses of DNA testing in

criminal investigations and proceedings. It originates

form material collected from a number of sources:

●

●

●

●

●

private laboratories (Cellmark Diagnostics, Forensic

Science Associates, and Lifecodes Corp.) that have

provided DNA analysis of evidence for criminal

investigations;

the Federal Bureau of Investigation (FBl);

State Attorney Generals’ offices;

Office of Technology Assessment (OTA) advisory

panel members and reviewers; and

news reports and wire services.

Where possible, the following information is provided for

each entry in this appendix:

●

●

●

●

●

name of case/investigation;

date of case/investigation (e.g., date the information

was provided to OTA or date of trial, hearing, or

report);

location of case/investigation (county or city);

information about the case/investigation; and

the laboratory involved in conducting the testing

and/or providing expert testimony.

This appendix catalogues over 200 reported uses of

DNA testing in criminal investigations and proceedings

reported to OTA as of January 1, 1990. DNA evidence has

been admitted by courts in 38 States and by the U.S.

military. Judicial recognition of the admissibility of DNA

evidence was pending in two additional States, and in one

State had been used to obtain a plea without a hearing as

to the evidence’s admissibility. Uses of DNA testing in

criminal investigations and proceedings were reported in

45 States and the District of Columbia. No State court has

found that DNA testing per se fails to meet established

tests for admissibility, although in several cases the

admissibility of DNA evidence has been limited or barred.

This appendix reports the use of DNA testing:

in cases where such evidence was admitted by a court

or used to obtain a plea prior to an admissibility

hearing (185 cases);

in cases where the admissibility of DNA evidence is

pending (26 cases);

as a tool in an ongoing criminal investigation (13

cases);

to exculpate a defendant (12 reported instances);

in cases where the DNA test results were inconclusive (7 reported instances);

in two cases where such evidence was given only

limited admissibility by a court (Pennell in Delaware

and Castro in New York);

in two cases where such evidence was ruled to be

inadmissible (Martinez in California and Schwartz

in Minnesota);

in one case where such evidence was withdrawn by

the prosecution prior to its introduction (McLeod in

Maine); and

as it involves two cases (Woodall in West Virginia

and Hinton in Connecticut) where defendants sought

to use such evidence to re-open prior convictions.

The number of reported uses in this appendix is

conservative. The vast majority of criminal investigations, suspect/defendant exculpations, and plea bargains

are not widely reported. For example, in 37 percent of the

more than 500 rape and homicide investigations completed by the FBI through January 1990, the primary suspect

was excluded. In addition, this appendix generally covers

only those cases reported by the primary private laboratories and the FBI. Although impossible to precisely

determine, OTA estimates that, to date, DNA tests have

been used by law enforcement in over 2,000 investigations. All trends indicate that the number of cases will

continue to increase dramatically in the near term.

–157–
158 • Genetic Witness: Forensic Uses of DNA Tests

Alabama

State of Alabama v. Moore

April 1989

Prattville

DNA evidence admitted in rape case. Defendant

convicted. (Lifecodes)

State of Alabama v. Perry

December 1988

Scottsboro

DNA evidence admitted in rape case. Defendant

convicted. (Lifecodes)

State of Alabama v. Pettway

November 1989

Mobile

DNA evidence admitted in rape case. Defendant

convicted. (Lifecodes)

State of Alabama v. Snowden

November 1989

Bay Minette

DNA evidence admitted in rape case. Defendant

convicted. (Lifecodes)

State of Alabama v. Wallace

December 1989

Birmingham

DNA evidence admitted. Defendant accused of rape. Trial

ended in a hung jury. (Lifecodes)

State of Alabama v. Yelder

March 1989

Montgomery County

DNA evidence admitted. Jury convicts Timothy Yelder of

seven felony counts of rape, burglary, and sodomy

associated with three rapes that occurred in 1988.

Alaska

Admissibility of DNA evidence pending in criminal trial

in Kodiak.

Arizona

State of Arizona v. Bible

May 1989

Coconino county

In February 1989, a Superior Court judge ruled to allow

the introduction of DNA evidence in the murder trial of

Richard Bible. Bible was charged with murder,

kidnapping, and child molestation in the June 1988

disappearance and death of a 9-year-old girl, (Cellmark)

State of Arizona v. Dazen

August 1989

Apache County

DNA test matches suspect to semen stain. Suspect

pleaded guilty to rape. (Lifecodes)

State of Arizona v. Kiles

December 1989

Yuma County

Judge orders the FBI to release all laboratory notes and

proficiency tests for the defense to examine, or the

prosecution would be barred from using DNA evidence in

the case.

State of Arizona v. Martin

August 1989

Mesa City

Results of DNA test lead to arrest of suspect in the 1988

sexual assault and murder of a 13-year-old girl.

State of Arizona v. Stutler

August 1989

Yavapai County

Upon learning of results of DNA analysis on semen/

vaginal fluid mixture, defendant pleaded guilty to

attempted murder, burglary, sexual assault, kidnapping,

and arson. Sentenced to a total of 74 years in prison.

(Cellmark)

Associated Press report, Oct. 29, 1989

Scottsdale

Detectives in this celebrity-conscious city hope that DNA

blood testing will help them crack the 1 l-year-old murder

of former ‘Hogan’s Heroes’ star Bob Crane. Blood

samples from a suspect’s car have been sent to Cellmark

Diagnostics. Blood samples taken from the car in 1978

confirmed that the blood was Type B, which matches

Crane’s and is found in 10 percent of the population. Now,

with DNA testing, it is hoped that a more positive physical

identification can be made.

Arkansas

DNA evidence was admitted in a Little Rock rape case

following a pretrial hearing in November 1989. Trial

pending. (FBI)

California

State of California v. Axell

August 1989

Ventura County Superior Court

Court rules Cellmark’s DNA test results admissible.

Defendant is convicted of first-degree murder in

September 1989. (Cellmark, FBI)

State of Calfornia v. Barney

December 1989

Alameda County

DNA evidence admitted. Defendant waived jury trial and

was convicted in December 1989 of kidnapping, robbery,

and attempted rape. (Cellmark)
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 159

State of California v. Black

March 1989

Santa Ana

Defendant enters guilty plea to sexual molestation of two

step-daughters after being told of prosecution plans to

seek DNA analysis of fetal remains from an abortion

performed on the 17-year-old victim.

State of California v. Cathcart

November 1989

Santa Ana

DNA evidence admitted. Trial pending. (Lifecodes)

State of California v. Chavez

June 1988

San Mateo County

Prosecutors dismiss rape charges against defendant, in

custody for 7 months, after polymerase chain reaction

analysis (PCR) excludes the defendant. (Forensic Science

Associates)

State of California v. Davis

December 1989

Ventura County

DNA evidence admitted. Defendant convicted in fall

1989 of first-degree murder, sodomy, and sexual assault.

(Cellmark)

State of California v. Harris

June 1989

Santa Ana

Hearing. Orange County prosecutors seek to introduce

DNA evidence in rape trial. Admissibility pending.

State of California v. Littleton

December 1989

San Diego

Hearing held in December 1989 to admit DNA evidence

in rape case. Decision pending. (Cellmark)

State of California v. Luna

November 1989

Ventura County

DNA evidence admitted. Defendant convicted of rape in

November 1989. (FBI)

State of California v. Marlow

November 1989

Hollister

DNA evidence offered at pretrial hearing. Defendant is

charged with double murder and multiple rapes.

Admissibility ruling and trial pending. (Cellmark)

State of California v. Martinez

1988

I.os Angeles

Introduction of DNA evidence successfully opposed by

the District Attorney’s office. (Forensic Science

Associates)

State of California v. Mend

Riverside County

PCR case. (Forensic Science Associates)

State of California v. Wilds

December 1989

Los Angeles County

DNA evidence ruled admissible in rape-robbery case.

Prosecutors said they waited a year before settling on

what they considered the best case to use DNA evidence

in. Jury selection began in January 1990.

Associated Press report, Jan. 26, 1989

DNA analysis used to identify skull of a 3-year-old who

disappeared in 1984 during a desert camping trip at

Joshua Tree National Monument.

Colorado

State of Colorado v. Fishback

November 1989

Denver

DNA evidence admitted. Defendant convicted of rape.

(Cellmark)

State of Colorado v. Gallagher

November 1988

El Paso County

DNA evidence admitted. After a 4-day, nonjury trial, the

defendant was convicted of sexual assault. (Cellmark)

State of Colorado v. Groves

September 1989

Castle Rock

Suspected serial killer charged with 3 murders; a suspect

in 14 murders.

State of Colorado v. Lindsey

February 1989

El Paso County

DNA evidence admitted, but not considered by jury in

sexual assault and burglary case. DNA evidence was

linked to first of two attacks on the victim; however,

charges related to first incident were dismissed.

Defendant convicted and sentenced to life in prison.

(Cellmark)

State of Colorado v. Richardson

June 1989

Jefferson County

Defendant found not guilty of murder, but guilty of

accessory to murder. DNA evidence not found on

defendant, but was found on companion also charged with

murder (see State of Colorado v. Rivera).

State of Colorado v. Rivera

December 1989

Jefferson County

Defendant was tried for murder in December 1989. DNA

testing admitted. Defendant convicted. (Lifecodes)
160 ● Genetic Witness: Forensic Uses of DNA Tests

State of Colorado v. Robinson

Lifecodes testifies at evidentiary hearing. Defendant

exculpated of murder charge. (Lifecodes)

State of Colorado v. Sandoval

March 1989

Jefferson County

DNA test admitted as evidence in case of sexual assault,

kidnapping, and robbery. (Cellmark)

State of Colorado v. Wortham

February 1989

Pitkin County

Jury convicted defendant of rape and burglary. Prosecution relied on DNA test of semen sample. Defendant

convicted.

Associated Press report, Aug. 31, 1989

A headless, handless torso found in December 1988 was

found to be that of a missing woman. Cellmark’s DNA

test confirmed that the body was related to the father and

sister of the missing woman. Arapahoe County Sheriff

said this is the first case in Colorado, and possibly the

Nation, in which DNA was used to identify an unknown

body.

Connecticut

State of Connecticut v. Green

November 1989

Hartford

DNA testing admitted. Defendant pleaded guilty to

first-degree assault, and was sentenced in November 1989

to a 20-year prison term.

State of Connecticut v. Hinton

October 1989

New London

Arguments were heard in October 1989 on a State prison

inmate’s request for DNA tests to prove his claim that he

was wrongfully convicted of rape in 1982. Judge said he

would issue a decision on the request in early 1990.

State of Connecticut v. Sivri

October 1989

Trumbull

Pre-trial hearing re: DNA testing.

State of Connecticut v. Williams

June 1989

Stamford

PCR test conducted fails to show a link between

defendant and woman stabbed to death in a shopping

center parking lot. (Forensic Science Associates)

Delaware

State of Delaware v. Pennell

December 1989

Wilmington

DNA evidence admitted, but population statistical data

not admitted. Defendant convicted of two counts of

first-degree murder. Hung jury on third count.

District of Columbia

Green v. District of Columbia

Convicted in June 1989, Green pursued DNA testing,

which revealed that he was not the individual whose

semen had stained the victim’s clothing. Rape, kidnapping, and sodomy charges were dropped in early 1990.

Florida

State of Florida v. Andrews

October 1988

Orange County

DNA evidence admitted. Andrews convicted in November 1987 of raping and slashing a woman. The use of such

evidence upheld by 5th District Court of Appeals in

October 1988.

State of Florida v. Beene

February 1989

Okaloosa County

DNA evidence admitted. Defendant convicted of multiple

counts of sexual assault. (Cellmark)

State of Florida v. Bentzel

January 1989

Jacksonville

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. Bishop

December 1988

Bay County

DNA test admitted in case charging armed burglary and

assault with a firearm. Judge found defendant guilty on

both counts. (Cellmark)

State of Florida v. Burroughs

November 1989

Miami

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. Forrest

January 1989

West Palm Beach

Defendant, the suspect in the so-called Congress Avenue

rapes, was convicted of rape by a jury after DNA evidence

showed defendant had fathered the victim’s aborted fetus.

(Lifecodes)
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings . 161

State of Florida v. Helton

September 1989

Escambia County

DNA evidence admitted. Defendant convicted of six

counts of rape, one count of attempted rape, attempted

first-degree murder with a weapon, and petty theft.

(Cellmark)

State of Florida v. Herndon

December 1989

Miami

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. Hill

January 1988

Broward County

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. James

November 1988

Ft. Lauderdale

DNA tests conducted. No result from testing. Lifecodes

provided testing and was called to testify at trial.

(Lifecodes)

State of Florida v. Jenkins

June 1988

Orange County

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. Jones

March 1988

Putnam County

DNA evidence admitted. Defendant convicted of murder,

robbery, and sexual battery. This was the first capital case

using DNA evidence. Case submitted for review to

Florida’s appellate court. (Cellmark)

State of Florida v. Jones and Griffin

September 1989

Leon County

DNA evidence admitted in murder case. Both defendants

convicted. (Cellmark)

State of Florida v. Martinez

April 1988

Deland

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. McGriff

November 1988

Quincy

DNA evidence admitted in murder-rape case. Defendant

convicted of murder; hung jury on rape charge. (Lifecodes)

State of Florida v. Moore

September 1989

Broward County

DNA evidence admitted. Defendant charged with rape

and armed kidnapping; convicted of assault. (Cellmark)

State of Florida v. O’Connor

May 1989

Miami

DNA testimony offered at pretrial hearing of murder case.

Defendant pleaded guilty prior to trial. (LifeCodes)

State of Florida v. Palmer

September 1988

Ft. Lauderdale

DNA tests conducted. No result from testing. Lifecodes

provided testing and was called to testify at trial.

(Lifecodes)

State of Florida v. Partain

September 1988

Ocala

DNA tests conducted. No result from testing. Lifecodes

provided testing and was called to testify at trial.

(Lifecodes)

State of Florida v. Power

June 1989

Sanford

DNA evidence used to prosecute defendant in three rapes.

Sentenced to 125 years in prison. (Lifecodes, Forensic

Science Associates)

State of Florida v. Reid

April 1989

Clearwater

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Florida v. Robinson, Coleman, and Frazier

June 1989

Escambia County

DNA evidence admitted in trial of three men charged with

drug-related murders of four people and the attempted

murder of fifth. DNA evidence linked one of the

defendants to the rape. Defendants were found guilty of

rape and murder. (Cellmark)

State of Florida v. Rogers

May 1989

St. Petersburg

DNA evidence admitted in sexual battery case. Defendant

convicted. (Lifecodes)

State of Florida v. Russell and Johnson

January 1989

Flagler County

DNA evidence admitted. Defendants convicted of sexual

battery and child abuse and sentenced to life imprisonment. (Cellmark)
162 ● Genetic Witness: Forensic Uses of DNA Tests

State of Florida v. Savage

November 1989

Titusville

DNA evidence admitted after expert testimony at pretrial

hearing. Defendant convicted of murder. (Lifecodes)

State of Florida v. Weed

July 1989

Pinellas County

DNA evidence admitted. Defendant convicted of kidnapping and rape. (Cellmark)

State of Florida v. Wike

June 1989

Milton

Defendant found guilty of murdering 6-year-old girl and

slashing the throat of and raping her 8-year-old sister.

Georgia

State of Georgia v. Caldwell

October 1989

Marietta

Pretrial hearings in May and October 1989 to determine

admissibility of DNA tests. Case pending. (Lifecodes)

State of Georgia v. Grier

December 1989

Bibb County

DNA evidence admitted. Defendant convicted of raping

a 91-year-old woman. Sentenced to life in prison. (FBI)

State of Georgia v. Redding

September 1988

Decatur

DNA evidence admitted after pretrial hearing in rape case.

Defendant pleaded guilty. (Lifecodes)

State of Georgia v. Smith

November 1988

Gainesville

DNA evidence admitted after pretrial hearing. Defendant

pleaded guilty to rape. (Lifecodes)

State of Georgia v. Whitner

March 1989

Conyers

DNA evidence admitted in rape case. Defendant convicted. (Life-codes)

Hawaii

State of Hawaii v. Lohr

March 1989

Honolulu

Defense proposes, prosecution and court agree, to DNA

testing of defendant in sexual assault case. Case pending.

(FBI)

State of Hawaii v. Manning

April 1989

Wailuku

DNA evidence is admitted. Defendant found guilty of

three cases of assault and burglary. (FBI)

Idaho

State of Idaho v. Horsley

May 1988

Sandpoint

DNA evidence admitted in rape case. Defendant convicted. (LifeCodes)

Illinois

State of Illinois v. Daniels

December 1989

Cook County

DNA evidence admitted. Defendant convicted in October

1989 of rape and murder. Sentenced to life term in prison

in December 1989.

Case of Gary Dotson

August 1989

Cook County

Cook County judge vacates 1979 rape conviction after

DNA test exculpates defendant. Dotson had been convicted in a 1977 rape, for which he spent 6 years in jail.

Alleged victim recanted story in 1985, and Governor

James Thompson granted clemency, but rape conviction

remained on his record. Dotson had requested that the

case be reopened for new trial after PCR tests excluded

him. (Forensic Science Associates)

State of Illinois v. Dugan

May 1989

Du Page County

Pre-trial hearing set for 1983 case of abduction, rape, and

murder. Tests link defendant to 1983 kidnapping, rape,

and murder of girl. Pending.

State of Illinois v. Lipscornb

October 1989

Champaign

Lifecodes provides testing and expert witness for pretrial

hearing in rape case. Admissibility pending. (Lifecodes)

Indiana

State of Indiana v. Hopkins

April 1989

Fort Wayne

Cellmark’s DNA test results admitted in case charging

rape, sodomy, and murder. Defendant convicted and

sentenced to 60 years in prison. Lifecodes expert also

testified. (Cellmark, Lifecodes)

State of Indiana v. Jones

August 1989

Marion County

DNA evidence admitted. Defendant convicted of rape and

robbery. (Cellmark)
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 163

State of Indiana v. Lockhart

August 1989

Crown Point

DNA evidence admitted. Defendant found guilty of rape

and murder. Jury recommended death penalty. Defendant

sentenced to death. (Cellmark)

Iowa

State of Iowa v. Brown

August 1989

Polk county

DNA evidence admitted. Defendant convicted of firstdegree murder. (Cellmark, Lifecodes)

State of Iowa v. Vargason

February 1989

Johnson County

DNA evidence admitted. Defendant convicted of thirddegree sexual abuse.

Kansas

State of Kansas v. Pioletti

May 1988

Wichita

DNA evidence admitted. Defendant convicted of murder.

State of Kansas v. Searles

PCR case. (Forensic Science Associates)

State of Kansas v. Smith

February 1989

Marion County

Defendant convicted of first-degree murder and rape in

which DNA typing was used as evidence. Trial of

defendant, who is Black, was moved to Junction City

from Marion County because all Black residents of that

county were relatives or acquaintances of the defendant.

Sentenced to life in prison. (Lifecodes)

State of Kansas v. Thomas

October 1989

Johnson County

DNA evidence admitted. Defendant convicted of firstdegree murder. (FBI)

State of Kansas v. Wilson

December 1989

Saline County

FBI report on DNA admitted. Judge rules that defendant

is to stand trial on charges of rape and aggravated

burglary. (FBI)

Louisiana

State of Louisiana v. Quatrevingt

January 1990

New Orleans

DNA evidence admitted in murder-rape case. Defendant

convicted. (Lifecodes)

Maine

State of Maine v. McLeod

December 1989

Portland

The prosecution, in a sexual molestation case, withdrew

DNA evidence during a preliminary hearing on the

reliability of the data. (Lifecodes)

Maryland

State of Maryland v. Abbott

September 1988

Anne Arundel County

DNA evidence admitted. Defendant pleaded guilty to

assault and battery charges after tests linked him to the

1987 rape of a relative.

State of Maryland v. Bailey

November 1988

Baltimore

Rape and armed robbery charges against defendant

dropped after DNA tests proved he could not have been

the man who raped and robbed a guest at a Baltimore City

hotel in July 1988.

State of Maryland v. Benton

March 1989

Montgomery County

DNA evidence admitted. Defendant convicted of rape and

other charges; sentenced to life term in prison. (Cellmark)

State of Maryland v. Cobey

July 1989

Montgomery County

Defendant found guilty of rape after DNA evidence ruled

to meet the Frye standard. Defendant sentenced to life,

plus 10 years. The case was submitted for appellate

review, and the Court of Special Appeals affirmed the use

of DNA evidence in July 1989. This was Cobey’s third

trial. The first ended in a mistrial, and his conviction in the

second trial (where evidence based on chromosome

variant analysis was introduced) was overturned on

appeal. Appeals Court subsequently upheld the admissibility of the DNA evidence.

State of Maryland v. Edwards

May 1989

Montgomery County

Trial pending on July 1989 sex offense.

State of Maryland v. Hargrove

January 1989

Montgomery County

Rape case. DNA evidence admitted following pretrial

hearing. Defense stipulated to the DNA testing results.

The trial resulted in a hung jury. Defendant was scheduled

to be retried. (Cellmark)
164 ● Genetic Witness: Forensic Uses of DNA Tests

State of Maryland v. Jenkins

October 1987

Charles County

Rape case. Charles County Circuit Court judge orders

DNA testing to be performed. DNA sample too degraded,

however, to successfully perform the testing. (Cellmark)

State of Maryland v. Lee

May 1989

Montgomery County

DNA evidence admitted. Defendant convicted of rape.

(Cellmark)

State of Maryland v. Rager

September 1989

Anne Arundel County

DNA evidence admitted. Defendant (who “dreamed” he

raped his neighbor) convicted of rape and sentenced to 12

years in prison.

State of Maryland v. Stavrakas

August 1989

Prince George’s County

DNA evidence admitted. Defendant convicted of rape.

(FBI)

State of Maryland v. Tasker

September 1988

Anne Arundel County

Defendant pleads guilty to second-degree rape and draws

5-year prison sentence in case where DNA evidence was

introduced.

State of Maryland v. Tu

November 1989

Montgomery County

DNA evidence admitted. Defendant convicted of murdering his common law wife; no body was recovered.

(Cellmark)

State of Maryland v. Wilkenson

November 1989

Baltimore County

Defendant arrested for kidnapping. DNA tests indicate

identification of the stolen 16-pound baby.

State of Maryland v. Williams

May 1989

Montgomery County

DNA evidence admitted. Defendant pleads guilty to

first-degree murder. (Cellmark)

State of Maryland v. Yorke

September 1988

Baltimore County

DNA evidence admitted in rape case.

Massachusetts

Commonwealth of Massachusetts v. Curnin

September 1989

Worcester

DNA evidence admitted. Defendant convicted of rape.

(Cellmark)

Michigan

State of Michigan v. Adams et al.

October 1989

Oakland County

Expert testimony at pretrial hearing in rape and serial rape

case. Judge rules that DNA is admissible. Trial pending.

(Cellmark)

State of Michigan v. DuJardine

September 1989

Ottawa County

DNA evidence admitted following a Frye hearing.

Defendant convicted; sentenced in September 1989 to life

in prison. (Lifecodes)

State of Michigan v. Fagan

September 1988

Flint

DNA evidence admitted in rape case. Defendant convicted.

State of Michigan v. McMillan

September 1989

Ingharn county

Rape-murder case in which DNA identification from hair

follicles is awaiting acceptance by the court.

State of Michigan v. Perkins

April 1989

Oakland County

DNA evidence admitted. Defendant awaiting trial on rape

and murder charges. (Cellmark)

State of Michigan v. Szeman

October 1989

Oakland County

DNA evidence admitted in October 1989 following

pretrial hearing. Defendant faces 49 charges in connection

with 10 sexual assaults.

Minnesota

State of Minnesota v. Nielson

September 1989

Ramsey County

DNA evidence admitted. Defendant convicted of firstdegree murder and sentenced to life imprisonment.

(Cellmark)
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 165

State of Minnesota v. Plaster

September 1989

Ramsey County

DNA evidence admitted in first-degree murder case.

Defendant convicted. (FBI)

State of Minnesota v. Schwartz

Minnesota Supreme Court ruled in November 1989 that

DNA tests performed by Cellmark did not meet guidelines for scientific reliability and cannot be used against

defendant, who was charged with first-degree murder.

Mississippi

State of Mississippi v. Jenkins

September 1989

DeSoto County

DNA evidence admitted. Defendant convicted of capital

murder and sentenced to death by injection. (Cellmark)

State of Mississippi v. Mettetal

June 1989

Union County

DNA evidence admitted. Defendant convicted of murder.

(Cellmark)

State of Mississippi v. Parker

October 1989

Neshoba County

DNA evidence admitted. Defendant convicted of capital

murder and sexual assault. (Cellmark)

State of Mississippi v. Weaver

February 1989

Hinds County

DNA evidence admitted. Defendant convicted of rape and

sentenced to life without parole. (Cellmark)

Missouri

State of Missouri v. Davis

August 1989

Boone County

DNA evidence admitted. Defendant was found guilty of

murder. (Cellmark)

State of Missouri v. Thomas

March 1989

St. Louis

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

Associated Press report, Nov. 11, 1989

Investigators in Columbia looking into the rape and

murder of a 5-year-old girl seek to obtain samples from

six suspects. Child’s body was recovered in November

1989.

Montana

State of Montana v. Drummond

September 1989

Jefferson County

Sexual intercourse without consent allegedly committed

by a State institution attendant against a developmentally

disabled patient. The victim gave birth and DNA comparisons were done by Lifecodes. Defendant pleaded guilty

to the offense. (Lifecodes)

New Hampshire

State of New Hampshire v. Barnaby

September 1989

Hillsborough County

DNA analysis admitted, according to State Attorney

General’s Office.

State of New Hampshire v. Chase

September 1989

Rockingham County

DNA analysis admitted, according to State Attorney

General’s Office.

State of New Hampshire v. Parker

September 1989

Merrimack County

DNA analysis underway, according to State Attorney

General’s Office.

New Jersey

State of New Jersey v. Beard

December 1989

Union County

Nearly 3 months after being charged with murder, the

defendant was released after a judge ruled that authorities

arrested the wrong man. The primary suspect in a 1975

Georgia murder disappeared after the crime. Mistakenly,

his cousin (the defendant in this case) was arrested. DNA

tests conducted by Lifecodes proved the jailed man was

not the father of a man known to be the son of the suspect.

(Lifecodes)

Associated Press report, Dec. 14, 1988

It seemed to be an open-and-shut case against a man

charged with sexual assault. DNA testing by showed

defendant’s sample did not match semen taken from

victim. (Lifecodes)

Associated Press report, Mar. 25, 1989

Unidentified female head discovered at a golf course in a

Hopewell Township. DNA testing to be conducted once

police get an idea of identity.
166 ● Genetic Witness: Forensic Uses of DNA Tests

New Mexico

State of New Mexico v. Collins

October 1989

Santa Fe

A man once charged with killing his step-daughter was

released from prison in October 1989 pending the

outcome of DNA testing. Open murder charges against

the defendant were dismissed in the interim.

New York

State of New York v. Arashi

November 1988

New York

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of New York v. Bailey

July 1988

Albany

Rape case. DNA evidence admitted after expert testimony

at pretrial hearing. Defendant pleaded guilty. (Lifecodes)

State of New York v. Berries

November 1989

Defendant charged with rape. No result from DNA test.

(Lifecodes)

State of New York v. Burton

March 1989

New City

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)

State of New York v. Buxton

December 1988

Albany

Defendant charged with rape. No result from DNA test.

(Lifecodes)

State of New York v. Castro

August 1989

Bronx

Life-codes’ test found to meet Frye standard and is ruled

admissible for exclusion purposes, inadmissible for

inclusion purposes. Defendant pleaded guilty to murder.

(Lifecodes)

State of New York v. Davis

May 1989

Queens

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of New York v. Drozic

November 1989

Erie County

Defendant indicted in rape case submits to DNA testing.

According to files released to media, defendant linked to

series of rapes. Defendant pleaded guilty to three rapes in

November 1989.

State of New York v. Golub

November 1989

Nassau County

Hearing held in October 1989, regarding admissibility of

DNA evidence. Defendant charged with second-degree

murder. (Lifecodes)

State of New York v. Gonzales

May 1989

Riverhead

DNA evidence admitted in murder case. Defendant

pleaded guilty. (Lifecodes)

State of New York v. Hwang

October 1989

Mineola

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)

State of New York v. Jones

October 1989

Albany County

A thrice-convicted felon pleaded guilty in October 1989

to rape after DNA tests implicated him.

State of New York v. Lawrence

November 1989

White Plains

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)

State of New York v. Lolisco

December 1989

Suffolk county

Defendant arrested in December 1989 after DNA tests

implicated him in the rape and homicide of a teenage girl.

State of New York v. Lopez

October 1988

Queens

Defendant convicted in 1988 of three rapes and one

robbery after DNA evidence was admitted. (Lifecodes)

State of New York v. Predmore

December 1988

Binghamton

DNA evidence admitted. Defendant pleaded guilty to

murder. (Cellmark)

State of New York v. Rhem

July 1989

Albany County

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 167

State of New York v. Scheff

January 1989

White Plains

Westchester County man accused of rape exonerated by

DNA test. Charges dismissed. (Lifecodes)

State of New York v. Smith

October 1989

New York City

Man charged with raping and killing a doctor in her

Bellevue Hospital office agrees to DNA testing aimed at

determining whether he acted alone. DNA test implicated

him; defendant convicted. (Lifecodes)

State of New York v. Walker

March 1989

Jamaica

Rape case. No result from DNA testing. (Lifecodes)

State of New York v. Wesley

August 1988

Albany

DNA evidence admitted in murder-rape case. Defendant

convicted. (Lifecodes)

State of New York v. Williams

PCR case. (Forensic Science Associates)

State of New York v. Zambrana

October 1987

New City

DNA evidence admitted. Defendant convicted of murder.

Central Park Wilding Case

October 1989

New York City

Youths charged in the beating and rape of a female jogger

during a “wilding” rampage ordered to give samples of

hair, blood, and saliva for DNA testing. FBI tests proved

inconclusive.

North Carolina

State of North Carolina v. Hamrick

September 1989

Forsythe County

Defendant was released, and rape and kidnapping charges

were dismissed after DNA tests exculpated him.

State of North Carolina v. McCarty

December 1989

Duplin county

Rape-incest case. A DNA paternity test was admitted at

trial. Defendant was convicted. (Cellmark)

State of North Carolina v. Mills

March 1989

Salisbury

DNA evidence admitted. Defendant convicted of murder.

(Cellmark)

State of North Carolina v. Pennington

December 1989

Forsythe County

DNA evidence admitted. Defendant convicted of rape. In

December 1989, the North Carolina Supreme Court

agreed to hear an appeal regarding the admissibility of the

DNA test results. (Cellmark)

State of North Carolina v. Satterfield

September 1989

Alamance County

DNA evidence admitted at trial. Defendant was convicted

of rape and kidnapping. (Cellmark)

Ohio

State of Ohio v. Biddings

March 1989

Columbus

DNA tests resulted in 21 additional charges against the

defendant in a series of attacks known as the “handcuff

rapes.” Defendant now faces 123 charges in connection

with sexual attacks on 35 women from October 1984 to

August 1988.

State of Ohio v. Blair

September 1989

Clark County

DNA evidence admitted. Defendant convicted of murder.

(Cellmark)

State of Ohio v. Borgmann

June 1989

Hamilton County

DNA testing was performed for the defense in this case.

Judge ruled test results admissible. Defendant was found

guilty of rape. (Cellmark)

State of Ohio v. Burgette

May 1989

Toledo

Defendant pleads guilty to rape and kidnapping charges

after DNA tests link him to the crimes.

State of Ohio v. Dascenzo

July 1988

Montgomery County

Cellmark testified at motion hearing and jury trial where

DNA evidence was admitted in aggravated murder case.

Defendant was found guilty. (Cellmark)

State of Ohio v. Gordon

January 1989

Franklin County

DNA evidence admitted. Defendant convicted of five

counts of rape and kidnapping. (Cellmark)
168 . Genetic Witness: Forensic Uses of DNA Tests

State of Ohio v. Kinley

March 1989

Springfield

Defendant charged in two murders after DNA tests linked

the man to the incident.

State of Ohio v. McWhite

September 1989

Lucas County

DNA evidence admitted. DNA from tissue scraped from

victim’s fingernails did not match the defendant. However, the defendant was convicted of two counts of

‘aggravated murder. (Cellmark)

State of Ohio v. Pierce

July 1989

Delaware County

DNA evidence admitted. Defendant convicted of rape.

(Cellmark)

State of Ohio v. Reese

October 1989

Cuyahoga County

DNA evidence admitted. Defendant convicted of rape,

aggravated burglary, and theft; sentenced 40 to 100 years.

(Cellmark)

State of Ohio v. Tague

June 1988

Montgomery County

Judge assigned from Perry County rules that DNA

evidence will be admitted in Montgomery County trial

where defendant is charged with aggravated murder and

kidnapping.

State of Ohio v. Thomas

September 1989

Montgomery County

DNA evidence introduced in rape-murder case. Defendant found guilty of all charges and was sentenced to life

in prison, plus 10 to 25 years. (Cellmark)

United States v. Yee, Veri, and Bonds

October 1989

U.S. District Court, Toledo

Three members of the Hell’s Angels motorcycle gang

were arrested on murder charges. Admissibility of DNA

evidence pending. (FBI)

Associated Press report, Dec. 7, 1989

Pike County Sheriff’s Department awaiting DNA test

results from FBI so suspect can be arrested. According to

local authorities, FBI reported a backlog of 60 cases, and

that results in this case would not be issued for 3 months.

Oklahoma

State of Oklahoma v. Hunt

September 1987

Norman

First time Lifecodes testifies regarding DNA evidence in

criminal case. Defendant acquitted of murder charges.

(Lifecodes)

State of Oklahoma v. Reed

May 1988

Oklahoma City

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Oklahoma v. Taylor

January 1989

Oklahoma City

DNA evidence admitted. Defendant convicted of rape,

burglary, oral sodomy, and robbery. (Lifecodes)

Associated Press report, Sept. 26, 1989

DNA tests implicated a suspect in four rapes. However,

the suspect was slain by police following a robbery in

April 1989. (FBI)

Oregon

State of Oregon v. Dorson

November 1989

Lincoln County

DNA evidence admitted in aggravated murder case.

Defendant convicted in November 1989.

State of Oregon v. Futch

May 1989

Clatsop County

DNA test results offered for admission at 7-month pretrial

hearing, which concluded in December 1989. (Lifecodes)

Pennsylvania

Commonwealth of Pennsylvania v. Conyers

August 1989

Dauphin County

DNA evidence admitted. Defendant convicted of murder

and rape; sentenced to two consecutive life terms, plus 5

to 10 years. (Cellmark)

Commonwealth of Pennsylvania v. James

PCR case. (Forensic Science Associates)

Commonwealth of Pennsylvania v. McCullum

June 1989

Allegheny County

DNA evidence admitted in murder-rape case. Defendant

convicted. (Cellmark)

Commonwealth of Pennsylvania v. Osellanie

July 1989

Lackawanna County

DNA test inconclusive in case against defendant, who was

charged with murder. Authorities said DNA was not the

primary evidence, and that the test results would have no

adverse impact on the case. (Cellmark)
Appendix A--Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 169

Commonwealth of Pennsylvania v. Pestinikas

First criminal DNA case in the United States (1986). PCR

case. (Forensic Science Associates)

Commonwealth of Pennsylvania v. Smith

August 1989

Harrisburg

DNA evidence admitted in rape-burglary case. Defendant

convicted. (Cellmark)

Commonwealth of Pennsylvania v. Thomas

September 1989

Cannonburg DNA evidence offered at pretrial hearing in

rape case. Defendant pleaded guilty. (Lifecodes)

Commonwealth of Pennsylvania v. Trubia

December 1988

Lackawanna County

DNA evidence accepted in murder-rape case. Defendant

convicted.

Commonwealth of Pennsylvania v. Whitman

October 1989

Lebanon County

Defendant pleads guilty to first-degree murder, but

mentally ill to charges of rape and involuntary deviate

sexual intercourse. DNA evidence would have been

offered had the case gone to trial.

Commonwealth of Pennsylvania v. Woodson

March 1989

Allegheny County

Defense stipulates to DNA test results. Defendant found

guilty of rape. (Cellmark)

Associated Press report, Feb. 23, 1989

Police in State College released new details of a Pennsylvania State University student’s 1987 murder, including

information that police have a DNA test of the killer.

Police released information in hopes of generating new

leads in the case.

Rhode Island

In re: Juvenile

September 1989

Case involving rape of a nursing home resident. Lifecodes

conducted test. Juvenile admitted sufficient facts to

establish the charge against him; sentenced to 3 years at

a juvenile facility. (Lifecodes)

State of Rhode Island v. Otero

September 1989

Testing by Lifecodes. Trial pending.

State of Rhode Island v. Scurry

September 1989

Testing by FBI. Trial pending.

South Carolina

State of South Carolina v. Daniels

July 1989

DNA tests reveal that defendant’s blood did not match

DNA patterns in semen samples taken from rape victims.

Police were looking for a man wearing a stocking mask

who was believed to be responsible for 12 rapes over a

2-year period. Defendant said his troubles began when he

jokingly donned a Halloween mask one day and walked

from his sister’s house in Summerville to his home in

Lincolnville. Authorities were not convinced of first DNA

tests. Second tests were negative and defendant was

released.

State of South Carolina v. Evans

April 1989

Charleston County

DNA evidence admitted in rape-burglary case. Defendant

convicted. (Lifecodes)

State of South Carolina v. Ford and Fraser

April 1989

DNA evidence admitted. Defendant convicted on charges

of criminal sexual conduct, kidnapping, and conspiracy.

(Lifecodes)

State of South Carolina v. Mitchell

August 1989

Columbia

DNA evidence admitted. Hung jury on rape charges.

(Lifecodes)

State of South Carolina v. Sellers

December 1989

Orangeburg

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

South Dakota

State of South Dakota v. Wimberly

December 1989

Meade County

Defendant found guilty of rape. (FBI)

Tennessee

FBI testimony in rape case in Blountville, Tennessee on

Dec. 11, 1989, results in admission of DNA evidence.

Trial pending.

Texas

State of Texas v. Balawajder

PCR case. (Forensic Science Associates)

State of Texas v. Bethune

January 1989

Harris County

Defendant convicted of raping a 74-year-old woman after

introduction of DNA evidence. (Lifecodes)
170 ● Genetic Witness: Forensic Uses of DNA Tests

State of Texas v. Clarke

PCR case. (Forensic Science Associates)

State of Texas v. Danzinger

PCR case. (Forensic Science Associates)

State of Texas v. Fuller

PCR case. (Forensic Science Associates)

State of Texas v. Kelly

November 1988

Tarrant County

Defendant convicted in the slaying of a 63-year-old

woman following a trial in which DNA testing was

admitted into evidence. (Lifecodes)

State of Texas v. Glover

October 1988

Dallas

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Texas v. Hicks

January 1989

Fairfield

DNA evidence admitted in murder-rape case. Defendant

convicted. (Lifecodes)

State of Texas v. Leon

May 1989

Henderson County

DNA tests completed. The 15-year-old defendant—

certified to stand trial as an adult for capital murder,

aggravated sexual assault, and two armed robberies—

pleads guilty.

State of Texas v. Lockhart

October 1988

San Antonio

DNA evidence linking defendant to a Florida murder

victim was admitted at a Texas sentencing hearing on Oct.

17-18, 1988. The defendant, convicted of murdering a

Beaumont policeman, received the death penalty. Defendant was accused of going on a nationwide killing spree,

and was also charged with capital murder in slayings in

Indiana and Florida.

State of Texas v. Lopez

PCR case. (Forensic Science Associates)

State of Texas v. Mandujano

May 1989

Bryan

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Texas v. McFarland

PCR case. (Forensic Science Associates)

State of Texas v. Perryman

June 1989

Piano

DNA evidence admitted in sexual assault case. Defendant

convicted. (Lifecodes)

State of Team v. Schultze

September 1989

Palestine

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)

State of Texas v. Trimboli

April 1988

Tarrant County

A DNA test that triple-murder defendant Ronald Trimboli

had hoped would clear his name instead gave prosecutors

additional evidence against him. The tests concluded that

semen found on the bedspread where one of the three

victims was raped matched a sample Trimboli had given

for the test. Trimboli’s two earlier trials for the three

murders both ended in mistrials, first because of jury

misconduct and later because a jury deadlocked, 6 to 6. In

February 1989, defense lawyers, who had earlier demanded the tests, announced plans to seek exclusion of

the tests at trial. Presiding judge granted a defense motion

requiring prosecutors to furnish detailed data related to

the tests, and to send the defense team to Lifecodes, where

the tests were done, at State expense. The third trial began

on Mar. 27, 1989, and the defendant was found guilty of

three murders in April 1989. (Lifecodes, Forensic Science

Associates)

State of Terns v. Vickers

July 1989

Beaumont

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

State of Texas v. Williams

August 1988

Bryan

DNA evidence admitted in rape case. Defendant convicted. (Lifecodes)

Associated Press report, Feb. 22, 1989

DNA testing was reported in two investigations. In one,

a police officer in Houston, arrested and charged with

kidnapping and rape, provided a blood sample that was to

be used in DNA matching. The other, an immigration

case, involves a woman who was indicted by Federal

authorities on kidnapping charges for taking a child from

Mexico and bringing him to the United States, according

to the FBI. Blood tests were taken to determine the

relationship between the woman and the child.
Appendix A-Reported Uses of DNA Testing in Criminal Investigations and Proceedings ● 171

Utah

State of Utah v. Bickmore

April 1989

Ogden

DNA evidence admitted. Mistrial declared on other

grounds.

Associated Press report, Mar. 4, 1989

DNA tests conducted on severed legs found in supermarket trash container in Salt Lake City area.

Vermont

United States v. Jakobetz

November 1989

U.S. District Court, Burlington

Admissibility hearing pending in rape case. Defense

attorney has filed request that genetic evidence not be

used in court. In August 1989, judge ruled that hair, blood,

and saliva samples could be taken from defendant for

testing.

Virginia

Commonwealth of Virginia v. Breer

October 1989

Arlington County

Defendant is charged with two rapes. DNA evidence

expected to be introduced at trial.

Commonwealth of Virginia v. Copeland

June 1989

Portsmouth

DNA evidence admitted in murder case. Defendant

convicted of murder. (LifeCodes)

Commonwealth of Virginia v. Ford

February 1989

Henrico County

Case involving charges of rape, breaking and entering,

and abduction. DNA testing admitted. (Cellmark)

Commonwealth of Virginia v. Johnson

June 1989

Rockingham County

Defendant pleads guilty just prior to trial; DNA evidence

had been ruled admissible after a motions hearing.

(Cellmark)

Commonwealth of Virginia v. Reynolds

February 1988

Henrico County

Murder case. DNA evidence admitted. (Cellmark)

Commonwealth of Virginia v. Spencer

January 1990

Arlington County and Richmond

Defendant convicted four times-July 1988, September

1988, January 1989, and May 1989-of capital murder

and rape where DNA test was admitted into evidence.

Spencer received the death sentence, which is automatically reviewed. Virginia Supreme Court upheld the

admission of DNA tests. In January 1990, the U.S.

Supreme Court refused to hear Spencer’s appeal, thus

allowing the Virginia High Court ruling to stand.

Commonwealth of Virginia v. Trent

January 1989

Roanoke

Judge dismissed charges of statutory rape against defendant because, although DNA tests showed the man had

sex with a 14-year-old girl, there was insufficient

evidence of criminal intent. Defendant claimed he was

drunk at the time, and thought he was having sex with his

wife.

Commonwealth of Virginia v. Vasquez

January 1989

Richmond

Vasquez, who had earlier pleaded guilty to second-degree

murder, was released from prison in January 1989 after

being granted executive clemency by Virginia Governor

Baliles. DNA testing in Commonwealth of Virginia v.

Spencer led authorities to believe that Spencer, not

Vasquez, was responsible for the homicide to which

Vasquez had pleaded guilty.

Associated Press report, May 13, 1989

Authorities in Campbell County plan to use DNA tests in

seeking identification of the mother of a suffocated baby

found in the Campbell County landfill.

Washington

State of Washington v. Buckner

February 1989

Stevens County

DNA evidence admitted. Defendant convicted of firstdegree murder and rape. (Lifecodes)

State of Washington v. Cauthron

May 1989

Everett

Jury finds defendant guilty of seven counts of rape. DNA

evidence was recovered from six of the seven attacks.

Defendant sentenced to 51 years in prison. (Cellmark)

State of Washington v. Chapple

May 1989

Spokane County

Defendant charged with two murders. Trial pending.

State of Washington v. Evans

October 1989

Pierce County

DNA evidence admitted. Defendant convicted of rape and

robbery. (FBI)
172 ● Genetic Witness: Forensic Uses of DNA Tests

State of Washington v. Kalakowsky

June 1989

Spokane County

DNA evidence admitted. Defendant convicted of four

counts of first-degree rape and one count of attempted

first-degree rape. Sentenced to 54 years in jail.

(Lifecodes)

State of Washington v. Shriner

October 1989

Pierce County

Judge rules that DNA testing is to proceed in sexual

assault case. (Cellmark)

State of Washington v. Young

February 1989

Snohomish County

DNA tests exclude Young, who had been identified by the

victim as the rapist. Charges dropped.

West Virginia

State of West Virginia v. Ferrell

January 1989

Petersburg

DNA evidence admitted in murder case. Defendant

convicted. (Lifecodes)

State of West Virginia v. Woodall

July 1989

Defendant, serving 335 years and two life terms for

kidnapping and raping two women, undergoes DNA

testing after several attempts are denied. DNA tests

showed that samples were too degraded for testing to be

accurate. West Virginia Supreme Court admitted test

results in July 1989; rules that Woodall can follow normal

appeals process. (Cellmark)

Wisconsin

State of Wisconsin v. Banks

February 1989

Kenosha County

DNA evidence admitted, defendant convicted of rape.

(Cellmark)

Military

United States v. Luke

March 1988

Us. Army

Defendant charged with murder, robbery, and sexual

battery. DNA evidence admitted. Defendant pleaded

guilty.

United States v. Scott

January 1988

U.S. Marine Corps

Rape case. Military judge approved request for DNA

tests, but DNA in sample too degraded to perform the

testing.
Appendix B

Survey Instrument for OTA Survey of

State and Local Crime Laboratories

As part of this assessment, OTA surveyed all State and The following is a reproduction of the survey questionlocal crime laboratories identified in the 1988 U.S. naire.

Department of Justice, Federal Bureau of Investigation

Directory of Crime Laboratories Representing Local,

State and Federal Systems (see ch. 6).

–173–
174 ● Genetic Witness: Forensic Uses of DNA Tests

SURVEY OF STATE AND LOCAL CRIME LABORATORIES

Survey by the Biological Applications Program

Office of Technology Assessment

U.S. Congress

Washington, D.C. 20510-8025

Please Respond by March 13,1989

The Office of Technology Assessment is conducting a survey of U.S. state and local crime laboratories as part

of an assessment of Forensic Uses of Genetic Tests. Please read each question and mark the space below

the question that corresponds to your answer. After each answer continue with the next question unless there

IS an instruction to skip to a particular question or section. Only aggregate data will be presented in the

report, so individual information will not be identified with any particular facility. Please call Margaret

Anderson if you have any questions (202)228-6695.

SECTION 1: GENERAL QUESTIONS

1. Do you believe DNA typing is:

very imporlant to develop for advancing the mission of this crime

laboratory? (1)

somewhat important, but only an additional technology in an array of

existing technologies? (2)

not very important to the mission of this crime laboratory? (3)

2. What is the total number of non-clerical staff members in your facility?

3. What is your crime laboratory’s annual budget?

4. What role, if any, do you see for the FBI in DNA testing? (Please check all that apply)

research (methods development and evaluation) (1)

training (2)

casework for state and local labs (3)

maintenance of centralized DNA data files (4)

reference library (5)

define standards (6)

certify laboratory personnel (7)

provide proficiency samples for quality assurance (8)

other, what? (9)

5. Do you believe that DNA testing results should be incorporated into a database (e.g., local, state, or

national) so that they can be exchanged among law enforcement agencies?

yes (1)

no (2) SKIP to Q 7
AppendixB-Survey Instrument for OTA Survey of State and Local Crime Laboratories . 175

6. What types of data files would be most useful? (Please rank from 1 = most useful to 4 = least

useful. Ignore our code numbers such as (l), (2))

population data (1)

crime scene evidence from cases in which

a subject hasn’t been identified (2)

known offender files (3)

missing persons/unidentified deceased (4)

7. What do you see as the most important issues involving DNA testing?

8. Have you plans for utilizing or do you currently utilize forensic DNA testing? (Please check all that

apply)

yes, presently contracting (1) Please answer SECTION Ill

yes, DNA tests on site (2) Please answer SECTION IV

yes, have plans for on-site

DNA testing (3) Please answer SECTION II

no, we do not currently use (4) Please answer SECTION II

SECTION 11: NOT CURRENTLY CONDUCTING DNA TESTING

9. If you are not currently conducting DNA testing either on-site or contracting, do you have plans or

funding to contract for DNA testing:

in the next 12 months? (1)

in the next 24 months? (2)

10. Do you have provisions to contract out DNA testing if necessary in the future?

yes, we will contract as necessary (1)

no, we do not intend to contract (2)

yes, we have provisions, but cost

may prevent us from contracting (3)

IF YOU ARE NOT CURRENTLY CONDUCTING DNA TESTS OR CONTRACTING FOR THEM,

THIS COMPLETES YOUR SURVEY. THANK YOU VERY MUCH.
176 ● Genetic Witness: Forensic Uses of DNA Tests

SECTION Ill: CONTRACTING FOR DNA TESTING

I l . If you are not conducting DNA analysis on-site, have you submitted budget provisions to do so that

have not yet been approved?

yes (1) If yes, how much? (3)

n o (2)

12. Which facilities have you contracted with? Please list all facilities and the number of specific cases

for each facility. Include any test or trial samples as well.

13. When you send specimens out to private laboratories, do you conduct a pre-screening test on them

beforehand?

yes (1)

no (2)

14. Based on the types of crimes that you would or are currently using DNA testing on, how many

samples do you anticipate sending out annually in the future?

15. Do you intend to restrict or institute a formal protocol to determine the type of crimes that DNA

testing can be used on?

yes (1)

no (2)

If yes, what type and/or criteria? (3)

IF IN ADDITION TO CONTRACTING, YOU ARE CONDUCTING ON-SITE DNA TESTING,

PLEASE ANSWER SECTION IV. IF NOT, THIS COMPLETES YOUR SURVEY. THANK YOU

VERY MUCH.

SECTION IV: ON-SITE

16. How many non-clerical staff members are there in the section performing DNA testing?

17. What is the annual budget in the section performing DNA testing?
Appendix B-Survey Instrument for OTA Survey of State and Local Crime Laboratories . 177

18. If you are conducting DNA testing on-site, have you or do you anticipate an increase in professional staff positions to coordinate or to conduct DNA analysis?

yes (1)

no (2)

19. Will positions handling DNA samples require extra training above and beyond the existing academic and work experience of these personnel?

yes (1)

no (2)

If yes, what? (3)

20. Please rank the following factors for relative importance in your decision to pursue DNA typing onsite. (Use 1 = most important to 4 = least important. Ignore our code numbers such as (l), (2))

cost of contracting out (1)

wanted the shortest turnaround time for samples (2)

control of evidence is important (3)

it’s important that we have state-of-the-art technology (4)

21. Are any non-criminal justice agencies in your state currently using the crime laboratory for other

purposes (e.g., paternity, child support enforcement, missing persons)?

yes (1)

no (2)

If yes, please name the type of agency and purpose: (3)

22. Are you creating or contributing to any DNA testing data files at this time?

yes (1)

no (2) SKIP to Q 25

If yes, please describe: (3)

23. If yes, will these files be maintained and regulated:

at the local level (1)

at the state level (2)

at the national level (3)

24. How do you plan to store DNA testing material not specifically assigned to an ongoing investigation? After completing this question, SKIP to Q 26.

DNA samples (1)

gels (2)

autoradiographs (3)

electronically captured prints (4)

other (Please describe) (5)
178 ● Genetic Witness: Forensic Uses of DNA Tests

25. [f you are not creating files, do you have plans to computerize the results of DNA testing, and what

stage have those plans reached? (Please check all that apply)

still preliminary (1)

,

hardware in place (2)

software in place (3)

other (Please explain) (4)

26. Do you currently have an NRC license for use of radioactive markers? If not, are you applying for

one?

yes (1)

no (2)

applying for a license (3)

27. Do you intend to restrict or institute a formal protocol to determine the type of crimes that DNA

testing can be used on?

yes (1)

no (2)

If yes, what type and/or criteria? (3)

THANK YOU VERY MUCH.
Appendix C

Acknowledgments

OTA would like to thank the members of the advisory panel who commented on drafts of this report and the many

individuals and organizations that supplied information for the study. In addition, OTA acknowledges the following

individuals who reviewed drafts of this-report:

Ronald T. Acton

University of Alabama, Birmingham

Birmingham, AL

Dan Adams

Office of the Attorney General of Massachusetts

Boston, MA

Robert C. Allen

Medical University of South Carolina

Charleston, SC

Sue Anderson

Chicago, IL

Jeffrey Ashton

Assistant State’s Attorney

Orlando, FL

Bernard Auchter

National Institute of Justice

Washington, DC

John Ballantine

Office of the Medical Examiner, Suffolk County

Hauppauge, NY

Jan S. Bashinski

California DNA Lab

Berkeley, CA

Peter G. Beeson

Office of the Attorney General of New Hampshire

Concord, NH

Robert P. Bennett

Office of the Attorney General of North Dakota

Bismarck, ND

Robert A. Bever

Genetic Design, Inc.

Greensboro, NC

Paul R. Billings

New England Deaconess Hospital

Boston, MA

Edward T. Blake

Forensic Science Associates

Richmond, CA

Bruce Budowle

Federal Bureau of Investigation

Quantico, VA

Brian L. Burgess

Office of the Attorney General of Vermont

Montpelier, VT

Beverly J. Burke

Office of the Corporation Counsel of the

District of Columbia

Washington, DC

John E. Burris

National Academy of Sciences

Washington, DC

R. Alta Charo

University of Wisconsin

Madison, WI

Byron Chatfield

Office of the Attorney General of Oregon

Salem, OR

James J. Coman

Office of the Attorney General of North Carolina

Raleigh, NC

Catherine T. Comey

Federal Bureau of Investigation

Quantico, VA

John P. Connor

Office of the Attorney General of Montana

Helena, MT

Edward L. Dance

Crime Laboratory, Kentucky State Police

Frankfort, KY

Steven D. Ebert

Office of the Attorney General of Wisconsin

Madison, WI

John Edward Farley

Office of the Attorney General of Rhode Island

Providence, RI

Paul B. Ferrara

Virginia Bureau of Forensic Science

Richmond, VA

Robert I. Field

Dilworth, Paxson, Kalish & Kauffman

Philadelphia, PA

-179–
180 . Genetic Witness: Forensic Uses of DNA Tests

Barry A.J. Fisher

Scientific Services Bureau, Los Angeles County

Sheriff’s Office

Los Angeles, CA

William Fitzgerald

Office of the Attorney General of Guam

Agana, GU

Theodore Friedmann

University of California, San Diego

La Jolla, CA

R.E. Gaensslen

University of New Haven

West Haven, CT

Daniel D. Gamer

Cellmark Diagnostics

Germantown, MD

Barry D. Gaudette

Central Forensic Laboratory,

Royal Canadian Mounted Police

Ottawa, Ontario, Canada

Andrew Geiser

Gaithersburg, MD

Paul L. Gimenez

Office of the Attorney General of the Virgin Islands

St. Thomas, VI

Jo Ann Given

Naval Investigative Services

Norfolk, VA

Richard Givens

Attorney-at-Law

New York NY

Dorothy Gordimer

Crime Laboratory, Union County Prosecutor’s Office

Westfield, NJ

Lionel H. Grundy

Home Office

London, England

Laura Lee Hall

Office of Technology Assessment

Washington, DC

Dan Hanaway

Attorney General, Wisconsin

Madison, WI

Rockne P. Harmon

District Attorney’s Office, Alameda County

Oakland, CA

Linda F. Harrison

School of Law, Georgia State University

Athens, GA

John W. Hicks

Federal Bureau of Investigation

Washington, DC

Theodore Holder

Office of the Attorney General of Arkansas

Little Rock, AR

Edward E. Hueske

Northern Regional Laboratory,

Arizona Department of Public Safety

Flagstaff, AZ

Robert Ianni

Office of the Attorney General of Michigan

Lansing, MI

Edward Imwinkelried

School of Law, University of California, Davis

Davis, CA

Dirk Janssen

Crime Laboratory, Wisconsin Department of Justice

Milwaukee, WI

Kathleen Jennings

Office of the Attorney General of Delaware

Wilmington, DE

Donald M. Johnson

National Crime Information Center

Washington, DC

Randolph N. Jonakait

New York Law School

New York NY

Roger Kahn

Crime Laboratory, Metro-Dade Police Department

Miami, FL

Michael Katzer

Office of the District Attorney, Albany County

Albany, NY

James J. Kearney

Federal Bureau of Investigation

Quantico, VA

Frank J. Kelley

Attorney General, Michigan

Lansing, MI

Margaret Kuo

Orange County Sheriff-Coroner’s Crime Laboratory

Santa Ana, CA
Appendix C-Acknowledgments . 181

Terry L. Laber

Minnesota Bureau of Criminal Apprehension

St. Paul, MN

Timothy D. Leathers

U.S. Department of Agriculture

Peoria, IL

John N. Linssen

Crime Laboratory, Wisconsin Department of Justice

Milwaukee, WI

Don MacClaren

Crime Laboratory, Washington State Patrol

Seattle, WA

Michael T. McDonnell

Automated Microbiology Systems, Inc.

San Diego, CA

Gary T. Marx

Massachusetts Institute of Technology

Cambridge, MA

Frederick R. Millar, Jr.

Office of the Attorney General of California

San Diego, CA

Keith L. Monson

Federal Bureau of Investigation

Quantico, VA

Laurence Mueller

University of California, Irvine

Irvine, CA

Peter J. Neufeld

New York, NY

Kenneth W. Nimmich

Federal Bureau of Investigation

Washington, DC

Kathleen Nolan

The Hastings Center

Briarcliff Manor, NY

Carla M. Noziglia

Crime Laboratory, Las Vegas Metro Police Department

Las Vegas, NV

Shannon Odelberg

University of Utah

Salt Lake City, UT

Linley E. Pearson

Attorney General, Indiana

Indianapolis, IN

Rickie L. Pearson

Office of the Attorney General of Kentucky

Frankfort, KY

Joseph L. Peterson

University of Illinois, Chicago

Chicago, IL

James M. Pollock

Crime Laboratory, Florida Department of

Law Enforcement

Jacksonville, FL

Warren Price, III

Attorney General, Hawaii

Honolulu, HI

Noreen F. Purcell

New Mexico State University

Las Cruces, NM

Christopher Pyle

Mount Holyoke College

South Hadley, MA

Carlos L. Rabren

Alabama Department of Forensic Sciences

Auburn, AL

Lisa J. Raines

Industrial Biotechnology Association

Washington, DC

Emmet A. Rathbun

Federal Bureau of Investigation

Washington, DC

Richard M. Rau

National Institute of Justice

Washington, DC

Dennis J. Reeder

National Institute of Standards and Technology

Gaithersburg, MD

Priscilla M. Regan

George Mason University

Fairfax, VA

Philip R. Reilly

Shriver Center for Mental Retardation

Waltham, MA

Rex E. Riis

Office of the Attorney General of South Dakota

Pierre, SD

Ira Robbins

Washington College of Law, American University

Washington, DC

Richard Roberts

Cold Spring Harbor Laboratory

Cold Spring Harbor, NY
182 ● Genetic Witness: Forensic Uses of DNA Tests

Stanley D. Rose

Perkin Elmer Cetus

Emeryville, CA

Anthony Sarcione

Office of the Attorney General of Pennsylvania

Harrisburg, PA

George F. Sensabaugh

University of California

Berkeley, CA

Donna-Marie Seyfried

The Perkin-Elmer Corp.

Norwalk, CT

David T.Stafford

University of Tennessee

Memphis, TN ,

David A. Stoney

University of Illinois, Chicago

Chicago, IL

Richard L. Tanton

Palm Beach Sheriff’s Crime Laboratory

West Palm Beach, FL

Enrico N. Togneri

Washoe County Sheriff’s Crime Laboratory

Reno, NV

Richard E. Tontarski, Jr.

Bureau of Alcohol, Tobacco, and Firearms

Rockville, MD

George L. Trainor

E.I. du Pent de Nemours & Co.

Wilmington, DE

John K. Van de Kamp

Attorney General, California

Sacramento, CA

Clifton VanderArk

Central Regional Crime Laboratory,

Arizona Department of Public Safety

Phoenix, AZ

Victor Weedn

Armed Forces Institute of Pathology

Washington, DC

Steven Westheimer

Office of the Attorney General of New Mexico

Santa Fe, NM

Raymond L. White

Howard Hughes Medical Institute

Salt Lake City, UT

Jerry Williams

Office of the Attorney General of American Samoa

Pago Pago, AS

Luther S. Williams

National Science Foundation

Washington, DC

Jan Witkowski

Banbury Center

Cold Spring Harbor, NY

Fred C. Wood

Office of Technology Assessment

Washington, DC

Harold Young

Office of the Attorney General of Iowa

Des Moines, IA

Marc Zimmerman

University of Michigan

Ann Arbor, MI

Additionally, OTA gratefully acknowledges the assistance of two contractors who provided material for this assessment:

Eric S. Lander, The Whitehead Institute for Biomedical Research, Cambridge, MA, “Reliability and Validity of DNA

Typing For Forensics,” October 1989.

Susan Sanford, MedSciArtCo, Washington, DC.
Appendix D

Acronymns and Glossary

A

AABB

AAFS

AFIS

APB

ASCLD

ASHG

ASHI

BJS

c

CAC

CACLD

CLIA

CTS

DHHS

DNA

Doc

DOJ

FBI

FSA

FSF

FSRTC

G

HCFA

HGML

HLA

ISFH

mtDNA

NCIC

NIST

NLETS

OMIM

OTA

PCR

PDB

PIR

RFLP

SSN

Acronyms

—adenine

—American Association of Blood Banks

—American Academy of Forensic Sciences

—Automated Fingerprint Identification Systems

—Advisory Policy Board (NCIC)

—American Society of Crime Laboratory

Directors

—American Society of Human Genetics

—American Society of Histocompatibility

and Immunogenetics

—Bureau of Justice Statistics (DOJ)

—cytosine

—California Association of Criminalists

—California Association of Crime Laboratory

Directors

—Clinical Laboratory Improvement Amendments of 1988

—Collaborative Testing Services

—U.S. Department of Health and Human

Services

—deoxyribonucleic acid

—U.S. Department of Commerce

—U.S. Department of Justice

—Federal Bureau of Investigation (DOJ)

—Forensic Science Associates

—Forensic Science Foundation

—Forensic Science Research and Training

Center (FBI/DOJ)

—guanine

—HealthCareFinance Administration (DHHS)

—Human Gene Mapping Library

—human leukocyte antigen

—International Society for Forensic Haemogenetics

—mitochondrial DNA

—National Crime Information Center

—National Institutes of Health

—National Institute of Justice

—National Institute of Standards and Technology (DOC)

—National Law Enforcement Telecommunications System

—On-Line Mendelian Inheritance in Man

—Office of Technology Assessment

—polymerase chain reaction

—Protein Data Bank

—Protein Identification Resource

—restriction fragment length polymorphism

—social security number

T —thymine

Triple I —Interstate Identification Index (NCIC)

TWGDAM-Technical Working Group on DNA Analysis Methods (FBI/DOJ)

—variable number of tandem repeats

Glossary of Terms

Allele: Alternative form of a genetic locus (e.g., at a locus

for eye color there might be alleles resulting in blue or

brown eyes); alleles are inherited separately from each

parent.

Autoradiogram: An x-ray film image showing the

position of radioactive substances. Sometimes called

‘‘Autocad. ”

Autoradiograph: See autoradiogram.

Autoradiography: A technique for identifying radioactively labelled molecules or fragments of molecules.

Autosome: Chromosome not involved in sex determination. In a complete set of human chromosomes, there

are 44 autosomes (22 pairs).

Band shift: The phenomenon of DNA fragments in one

lane of a gel migrating slower or faster than identical

fragments in another lane. As visualized on an

autoradiogram, the overall patterns would be the same,

but out of register. Factors responsible for band shift

include contaminants, salt concentration, and DNA

concentration.

Base pair: Two complementary nucleotides (adenosine

and thymidine or guanosine and cytidine) held together by weak bonds. Two strands of DNA are held

together in the shape of a double helix by the bonds

between base pairs.

Blot: See Southern blot.

Cell: The smallest component of life capable of independent reproduction and from which DNA is isolated for

forensic analysis.

Chromosome: A threadlike structure that carries genetic

information arranged in a linear sequence. In humans,

it consists of a complex of nucleic acids and proteins.

Controls: Tests designed to demonstrate that a procedure

worked correctly and performed in parallel with

experimental samples. Controls yield certain expected

results; when the observed results for the controls

deviate from what is expected, then the results for the

case samples cannot be considered reliable.

Deoxyribonucleic acid (DNA): The molecule that

encodes genetic information. DNA is a doublestranded helix held together by weak bonds between

base pairs of nucleotides.

DNA: See deoxyribonucleic acid.

DNA band: Referring to the visual image, e.g., on a

autoradiograrn or an ethidium bromide stained gel, that

represents a particular DNA fragment.

–183-
184 ● Genetic Witness: Forensic Uses of DNA Tests

DNA probe: Short segment of DNA that is labeled with

a radioactive or other chemical tag and then used to

detect the presence of a particular DNA sequence

through hybridization to its complementary sequence.

DNA sequence: Order of nucleotide bases in DNA.

Electrophoresis: Technique used to separate molecules

such as DNA fragments or proteins. In forensic uses of

DNA tests, electric current is passed through a gel,

usually composed of a substance called agarose, and

the fragments of DNA are separated by size. Smaller

fragments will migrate farther than larger pieces.

Enzyme: A protein that acts as a catalyst, speeding the

fate at which a biochemical reaction proceeds, without

being permanently altered or consumedly the reaction

so that it can be used repeatedly.

Gel: The semi-solid matrix used in electrophoresis to

separate molecules. In forensic DNA analysis, the

substance usually used is agarose, although acrylamide

can also be used

Gene: The fundamental unit of heredity; an ordered

sequence of nucleotide base pairs to which a specific

product or function can be assigned.

Genome: All the genetic material in the chromosomes of

a particular organism; its size is generally given as its

total number of base pairs.

Genotype: The genetic constitution of an organism, as

distinguished from its physical appearance, or phenotype.

Hardy-Weinberg equilibrium: In a large, random,

intrabreeding population, not subjected to excessive

selection, migration, or mutation, the gene and genotype frequencies will remain constant overtime, so that

for most single-locus probe analyses, the likelihood of

being a homozygote (one band) with genotype alal

will be (pl)2, where pl is the frequency in the

population of allele al

. For heterozygotes with two

bands, the chance that a person will have genotype

al/a2~ will be 2p1/2p2, where pI and p2 are the respective

frequencies of how often bands al and a2 occur.

Heterozygous: Having two different alleles at a particular

locus. For most forensic DNA probes and individuals,

if the person is heterozygous at the locus the probe

detects, the autoradiogram displays two bands.

HLA: See human leukocyte antigen.

Homozygous: Having the same allele at a particular

locus. For most forensic DNA probes and individuals,

if the person is homozygous at the locus the probe

detects, the autoradiogram displays a single band.

Human leukocyte antigen (HLA): Located on the

surface of most cells, except blood cells, these

protein-sugar structures differ among individuals and

are important for acceptance or rejection of tissue or

organ grafts and transplants. The locus of one particular class of these antigens, HLA DQx-1, is useful for

forensic analysis using PCR.

Hybridization: The process of joining two complementary strands of DNA, or of DNA and RNA, together to

form a double-stranded molecule.

Junk DNA: Sequence of DNA for which no specific

coding function has yet been assigned. Also called

noncoding DNA.

Linkage disequilibrium: The phenomenon of a specific

allele of one locus being associated with an allele of

another locus on the same chromosome with a

frequency greater than expected by chance.

Locus: A specific, physical position on a chromosome.

Marker: A gene with a known location on a chromosome

and a clear-cut phenotype that is used as a point of

reference when mapping another locus; or, referring to

DNA fragments of known base pair length run on gels

from which the size of unknown DNA sample

fragments can be determined.

Mitochondria: Structures, or organelles, found within a

cell that are responsible for generating the cell’s (and

hence organism’s) energy. Mitochondria contain DNA

molecules that are inherited only from an individual’s

mother. An individual and his or her siblings will share

the same mitochondrial DNA pattern-the pattern of

their mother (and other maternal relatives, including

the maternal grandmother and maternal aunts and

uncles).

Multilocus probe: DNA probe that detects genetic

variation at multiple sites in the genome. An autoradiogram of a multilocus probe application yields a

complex, stripe-like pattern of 30 or more bands per

individual. Compare Single-1ocus probe.

Nucleotide: The unit of DNA consisting of one of four

bases—adenine, guanine, cytosine, or thymineattached to a phosphate-sugar group. The sugar group

is deoxyribose in DNA. (In RNA, the sugar group is

ribose and the base uracil substitutes for thymine.)

Phenotype: The appearance of an individual or the

observable properties of an organism that result from

the interaction of genes and the environment.

Polymerase chain reaction (PCR): An in vitro process,

through which repeated cycling of the reaction reproduces a specific region of DNA, yielding millions of

copies from the original.

Polymorphism: The existence of more than one form of

a genetic trait.

Probe: In forensic applications, a short segment of DNA

tagged with a reporter molecule, such as radioactive

phosphorus (32P), used to detect the presence of that

particular complementary DNA sequence.

Protein: A biological molecule whose structure is

determined by the sequence of nucleotides in DNA.

Proteins are required for the structure, function, and

regulation of cells, tissues, and organs in the body.

Some traditional forensic genetic markers are proteins.

Recombinant DNA technology: Processes used to form

a DNA molecule through the union of different DNA
Appendix D-Acronyms and Glossary ● 185

molecules, but now commonly used to refer to any

techniques that directly examine DNA.

Replication: The synthesis of new DNA from existing

DNA. PCR is an in vitro technology based on the

principles of replication.

Restriction endonuclease: An enzyme that has the

ability to recognize a specific DNA sequence and cut

it at that sequence.

Restriction enzyme: See restriction endonuclease.

Restriction fragment length polymorphism (RFLP):

Variations in the size of DNA fragments produced by

a restriction endonuclease at a polymorphic locus.

RFLP analysis: DNA technique using single-locus or

multilocus probes to detect variation in the DNA sequence by revealing size differences in DNA fragments

produced by the action of a restriction enzyme. See

restriction fragment length polymorphism.

Serology: Scientific discipline concerned with the study

of body fluids.

Single-locus probe: DNA probe that detects genetic

variation at only one site in the human genome. An

autoradiogram using one single-locus probe usually

displays one (homozygote) or two (heterozygote)

bands. Compare multilocus probe.

Southern blot: The nylon membrane to which DNA has

adhered after the process of Southern blotting.

Southern blotting: The technique for transferring DNA

fragments separated by electrophoresis from the gel to

a nylon membrane, to which DNA probes that detect

specific fragments can then be applied.

Standardization: In forensic uses of DNA tests, refers to

a national system that uses a single restriction endonuclease with, in whole or part, certain designated DNA

probes; critical to databanking considerations. Compare standards.

Standards: Criteria established for quality control and

quality assurance; or, known test reagents, such as

molecular weight standards. Compare standardization.

Tandem repeats: Multiple copies of the identical (or

nearly identical) DNA sequence arranged in direct

succession at a particular site on a chromosome. See

variable number of tandem repeats.

Tag polymerase: DNA polymerase-the enzyme used to

form double-stranded DNA from nucleotides and a

single-stranded DNA template-isolated from the

bacterium Thermus aquaticus, which normally lives in

hot springs. Taq polymerase can withstand the high

temperatures required in the repeating cycles of PCR.

Variable number of tandem repeats (VNTR): Repeating units of a core DNA sequence, for which the core

number varies between individuals, thus providing the

basis for RFLP analysis. See tandem repeats.
Index
Index

Accreditation, 77-79

Admissibility

DNA tests, 14, 16-17,98-101, 103-105, 107, 157-172

DNA tests, limited or barred, 16, 103, 105, 108, 157

scientific evidence, 14, 15, 91, 93, 95-%

State statutes for DNA testing, 107

Advisory Committee on Automated Personal Data Systems, Federal Code of Fair Information Practices,

127

Advisory Policy Board (APB)-NCIC, 20, 125-127

Alabama

number of DNA cases in, 15

reported uses of DNA typing in, 16, 158

Alaska

number of DNA cases in, 15

reported uses of DNA typing in, 16, 158

American Academy of Forensic Sciences (AAFS), 72

American Association of Bioanalysts, clinical laboratory

regulation, 13, 78

American Association of Blood Banks (AABB)

proficiency testing program, 79

quality assurance standards for paternity testing of, 72

American Association of Trial Lawyers, 73

American Bar Association, 73

American Board of Criminalistics, 76

American Civil Liberties Union, 73

American Osteopathic Association, clinical laboratory

regulation, 13, 78

American Society for Microbiology, survey of membership in Hopkins case, 142

American Society of Crime Laboratory Directors (ASCLD),

72, 141, 146

accreditation program, 12, 77-78, 146

proficiency testing program, advisory capacity of, 72,

146

support for national databank based on FBI RFLP

protocol, 124

survey of members, 142

American Society of Histocompatibility and Immunogenetics (ASHI), quality assurance guidelines of, 72

American Society of Human Genetics (ASHG)

preservation of DNA samples, points to consider by,

133

quality assurance guidelines, points to consider by, 72

American Type Culture Collection, 121

Andrews, Tommie Lee, 99, 108, 105, 160

Antitrust Division (U.S. Department of Justice), 78

Argentina, 51

Arizona

law establishing DNA databank in, 16,20, 122, 123

number of DNA cases in, 15

reported uses of DNA typing in, 16, 158

Arkansas

number of DNA cases in, 15

reported uses of DNA typing in, 16, 158

Army (U.S.)

reported use of DNA typing in, 172

see also Military

Ashton, Jeffrey, 99

Attorney General (U. S.)

oversight and setting of standards, 29-30

role in crime-related information exchange, 125

Australia, 24, 145

Automated Fingerprint Identification Systems (AFIS),

114

Band shift, 10-11,63,65

Beirne, D., 119

Biotechnology Science Coordinating Committee, monitoring DNA technologies, 81

Brandeis, Justice, 111

Bureau of Justice Statistics (BJS), study of rates of

recidivism, 22, 129

California

law establishing DNA databank in, 16,20, 122-123

Martinez case, 157, 159

number of DNA cases in, 15

reported uses of DNA typing in, 16, 157, 158-159

California Association of Crime Laboratory Directors

(CACLD), 72

proficiency test administered by, 79-80,105

survey of interest in DNA typing conducted by, 142

California Association of Criminalists (CAC), 72,76

California Department of Justice, 72

Canada

Gander, Newfoundland incident, 130

Royal Canadian Mounted Police, 24, 145

Casselman, Murrel, 89

Castro, Jose, 103

Cellmark Diagnostics (Maryland), 148

costs of services, 25, 149

crime laboratories contracting with, 149

criminal cases and investigations examined by, 157-

172

testimony as expert witnesses by, 98

Certification, 76-77

Cetus Corp. (California)

Forensic Science Associates’ licensing agreement with,

148

patent for PCR, 148-149

test kit marketed by, 149

Civil liberties, 21-23

policy options for, 35-38

see also Privacy

Clinical laboratories

–189–
190 ● Genetic Witness: Forensic Uses of DNA Tests

Federal regulation of, 12-13,29,71,78

proficiency testing in, 80

State regulation of, 75-76

see also Clinical Laboratory Improvement Amendments of 1988

Clinical Laboratory Improvement Amendments of 1988

(CLIA), 12-13,78

Cobey, Kenneth, 108

Collaborative Testing Services (CTS), proficiency testing

program, 79

College of American Pathologists, clinical laboratory

regulation, 13,77,78

Colorado

law establishing DNA databank in, 16,20, 123

number of DNA cases in, 15

reported uses of DNA typing in, 16, 159-160

Computers

analyzing DNA tests using, 18-21, 113, 114-120

cost-effectiveness in court, 118-120

cross-jurisdictional networks of, 19-20, 125-128

FBI model system, 119

interpretation of PCR test results, 117-118

interpretation of RFLP analysis, 114-117, 118

interpretation of RFLP analysis, potential problems,

18, 119

storing DNA results in, 19-21, 120-128

verification and reliability of, 18, 119

see also Databanks

Congress, U. S., policy issues and options for, 26-38

Connecticut

Hinton case, 157, 160

number of DNA cases in, 15

proposed law establishing DNA databank in, 16, 20,

124

reported uses of DNA typing in, 16, 160

Consensus Development Program (NIH), 28,73-74

Constitution, U. S., 75,80,81,82

considerations in obtaining biological evidence, 97-98

Fifth Amendment, 17,97-98

Fourteenth Amendment, 17,98

Fourth Amendment, 17,98, 108

Right to privacy, 128

Sixth Amendment, 17,98

see also Privacy

Controls

for PCR, 69-71

for single-locus probe analysis, 62-64

costs

FBI equipment and computer, 118-120

FBI estimates of DNA typing, 25, 143-144

forensic services by private laboratories, 25, 149

of DNA typing, impact on defense, 17-18, 26, 101

onsite DNA testing, 23-25

paternity services by private laboratories, 149

quality assurance, 14,79

savings to courts in, 17, 100

to States of implementing DNA databank networks,

127

Council on Forensic Science Educators, 72

courts

DNA in, 14, 16-17,98-100, 157-172

pretrial hearings of DNA evidence in, 101, 103-105

role in quality assurance, 82

scientific evidence in, 14, 16, 91, 93, 96

trial strategy when using DNA in, 107

Crime laboratories

budgets of, 144-145

budget requests for DNA testing of, 150

contracting by, 148-150

involvement in DNA testing of State and local,

147-152

not currently using DNA testing, 147-148

onsite DNA testing by, 150-151

OTA survey of, 23-26, 129, 141, 144-153

plans for DNA testing by, 23-25, 147, 148

Databanks

access to information in, 133-134

accessibility to State criminal history files in, 22-23,

128, 134

creation and use of, 19, 120-128

crime laboratories’ interest in, 19, 146-147, 152

de facto national, 21, 113

ethnic and racial data collected in, 20-21,68, 120-121,

122

existing storehouses of genetic information, 121

fair information practices, 127-128

FBI plans for types of, 19, 120-124, 151

information exchange via, 20, 125-128

information proposed for storage in, 131-132

investigatory uses of, 19-21, 120, 121-124, 134-135

maintenance and management of, 20, 125-128

policy options for advisability of, 32-34

policy options for standardization for, 34-35

population statistics in, 19, 120-121

privacy of DNA information in, 21-23, 128-135, 136

proposed use to locate missing children, 130-131

recidivism as a justification for, 22, 129

role of NCIC, 20, 125-127

security and accountability, 127

standardization, 14,21,46, 83, 124, 136

State laws for establishing DNA, 16,20, 122-124

technical considerations in establishing, 124-125

see also Computers; Privacy

Davis, Aubrey J., 101

Davis v. Mississippi, 134

Delaware

number of DNA cases in, 15

Pennell case, 157, 160

reported uses of DNA typing in, 16, 160

Denmark 24, 145

Department of Commerce (U.S.), 28,75
Index ● 191

Department of Health and Human Services (U. S.)

clinical laboratory regulation, 13, 78

Consensus Development Program (NIH), 73

quality assurance and performance under Medicare, 81

Department of Justice (U.S.). See Federal Bureau of

Investigation; Attorney ,General (U. S.)

District of Columbia

number of DNA cases in, 15

reported uses of DNA typing in, 16, 160

DNA

composition and structure of, 3-4, 6,41-43

sources of, 4, 15,42, 104

variability and uniqueness of, 3,4143,59, 83

DNA analysis. See DNA testing, terminology

DNA databanks. See Databanks

DNA fingerprinting. See DNA testing, terminology

DNA identification. See DNA testing, terminology

DNA markers

population genetics and variation of, 7,43-44, 122

variable number of tandem repeats, 44

see also DNA; Population genetics; Restriction fragment length polymorphism; Statistics

DNA patterns

in murder casework 11,50,65

in paternity casework 9,61

in rape casework 7,50,60, 117

revealed by multilocus probes, 47

revealed by single-locus probes, 4, 47

using PCR/HLA DQx-1, 50

DNA prints. See DNA testing, terminology

DNA profiling. See 20DNA testing, terminology

DNA sequencing, 50

DNA testing

advantages of, 17,50, 100

considerations for declaring a match in, 63-64

controversies over setting standards for, 10-11, 82, 85

courtroom use of, 14-17, 98-100, 157-172

crime laboratories’ interest in, OTA survey, 23-26,141,

144-153

criminal investigations using, 14, 157-172

criticisms and limitations of, 17-18, 101

defense-initiated use of, 99-100

equipment needs for, 143

exclusion through, 157

impact on murder cases of, 51-52

impact on rape cases of, 51-52

international uses of, 24, 145

medically informative, 19, 37-38, 130-132

newborn infants, 130-131

novel applications of, 7, 51

paternity disputes, 14,52

quality assurance considerations for, 11-14,71-82

reliability of, 7-8, 60, 83

State laws addressing admissibility of, 14, 107

surveys to assess interest in (non-OTA), 142

terminology of OTA report, 3,41

uses of, present and future, 6-7, 8, 50-52,53

Validity of, 7-8, 10, 59-60, 83, 103

DNA typing. See DNA testing

Dotson, Gary, 119, 162

Drug testing laboratories, Federal regulation of, 12,29,71

Due process, 17,98, 128

Economics. See Costs; Funding

Einstein, Albert, 57

Electrophoresis Society, 73, 124

Everhart, Jeffrey L., 101

Evidence

biological, 96-98

DNA as, 96-109

DNA as exculpatory, percent by FBI laboratory, 157

rules and standards concerning the law of, 91

standards for admitting scientific, 91,93,95-96

statistical, 104-105, 107

Expert testimony

costs of, 25, 149

provided by FBI and commercial laboratories, 14,98

requirements under the Frye test, 93,95

requirements under the relevancy test, 96

use of, 91,93

Fair Information Practices, 127-128

Federal Bureau of Investigation (FBI)

cases and samples handled by, 23

computer networks and databanks, advisory role of,

122, 125-129, 151

criminal cases and investigations examined by, 157-

172

DNA Analysis Unit, 23-24, 143, 152

DNA databank types proposed by, 19, 120-122

percent suspects excluded in cases by, 157

proficiency testing, role of, 144

responsibilities for data files, 20,22, 127

roles suggested by crime laboratories for, 26, 146-147

survey of interest in DNA typing conducted by, 142

testimony as expert witnesses, 23,98

see also Forensic Science Research and Training

Center; National Crime Information Center; Technical Working Group on DNA Analysis Methods

Federal Rules of Evidence. See Relevancy test

Federal Trade Commission (U.S.), 78

Fifth Amendment to U.S. Constitution, 17,97-98, 135

Finland, 24, 145

Florida

Andrews case, 99, 108, 160

law establishing DNA databank in, 16,20, 123

number of DNA cases in, 15

private access to criminal history files in, 22, 128,134

reported uses of DNA typing in, 16, 160-162

Forensic science

education and training in, 76-77

policy options for funding in, 30-32
192 ● Genetic Witness: Forensic Uses of DNA Tests

professional societies in, 72

Forensic Science Associates (FSA)-California, 148-149

costs of services, 25, 149

crime laboratories contracting with, 149

criminal cases and investigations examined by, 157-

172

licensing agreement with Cetus. Corp., 148

testimony as expert witnesses by, 98

Forensic Science Foundation (FSF), proficiency testing

program, 79

Forensic Science Research and Training Center (FSRTC)

mission of, 141

research by, 141, 143

training by, 23, 143

validation studies of DNA testing by, 23, 143

Visiting Scientist Program of, 23, 143

see also Federal Bureau of Investigation

Fourteenth Amendment to U.S. Constitution, 17,98, 128

Fourth Amendment to U.S. Constitution, 17,98,108,135

Frye case, 93

Frye, James Alfonso, 93

Frye test, 93-95

advantages and drawbacks of, 95

comparison to relevancy test, 16, 96

Funding

mechanisms by crime laboratories for DNA testing,

150

policy options for, 30-32

Gander, Newfoundland, 130

GenBank, 121

General Accounting Office (U.S. Congress), quality

assurance in drug testing laboratories, 12,71

GeneScreen (Texas), 148

Genetic markers, traditional, 6,41,50,83

Genetics Society of America, 73

Gennan Corp. (Ohio), 148

Georgia

number of DNA cases in, 15

reported uses of DNA typing in, 16, 162

Guidelines

TWGDAM, 74

voluntary professional, 72-73

Hardy-Weinberg equilibrium, 67

Hawaii

number of DNA cases in, 15

reported uses of DNA typing in, 16, 162

Health Care Finance Administration (HCFA), clinical

laboratory regulation, 13,78

Holmes, Justice, 57

Houston, Cpl. Carl, 130

Human Gene Mapping Library (HGML), 121

Human Genetic Mutant Cell Repository, 121

Human Genome Mapping Project

computer spin-off technologies from, 113, 117

identification of loci for DNA sequencing from, 50

Human leukocyte antigen (HLA)--HLA DQx-1

casework using, 50

discrimination power of, 48

PCR examination at, 48-49

Idaho

number of DNA cases in, 15

reported uses of DNA typing in, 16, 162

Illinois

Dotson case, 119, 162

law establishing DNA databank in, 16,20, 123

number of DNA cases in, 15

reported uses of DNA typing in, 16, 162

Imperial Chemical Industries PLC (United Kingdom),

148

India, 24, 145

Indiana

Hopkins case, 142, 162

number of DNA cases in, 15

proposed law establishing DNA databank in, 16, 20,

124

reported uses of DNA typing in, 16, 162-163

International Association of Chiefs of Police, 125-126

International Electrophoresis Society, 124

International Society for Forensic Haemogenetics (ISFH),

quality assurance guidelines of, 72

Interstate Identification Index (Triple 1)-NCIC, 22, 125

Iowa

law establishing DNA databank in, 16,20, 123

number of DNA cases in, 15

reported uses of DNA typing in, 16, 163

Ireland, 24, 145

Israel, 24, 145

Italy, 24, 145

Jack, Melanie, 100

Japan, 24, 145

Jeffreys, Alec, 148

Joint Commission on Accreditation of Healthcare Organizations, clinical laboratory regulation, 13,77,78

“Junk” DNA, 19,38, 131-132

Kansas

Mosley case, 100

number of DNA cases in, 15

reported uses of DNA typing in, 16, 163

Kentucky, number of DNA cases in, 15

Korea, Republic of, 24, 145

Law Enforcement Assistance Administration, 144

Law Enforcement Standards Laboratory (National Institute of Justice), 75

Legislation

State admissibility of DNA tests, 14, 107

State DNA databanking, 16, 19,20, 122-124
Index ● 193

Leicester case, 8, 134-135, 148

Licensing

of personnel, 74-76

of facilities, 77

Lifebank Inc. (New York), 131

Lifecodes, Corp. (New York), 149

costs of services, 25, 149

crime laboratories contracting with, 149

criminal cases and investigations examined by, 157-

172

testimony as expert witnesses by, 98

Louisiana

law addressing the admissibility of DNA in, 14, 107

number of DNA cases in, 15

reported uses of DNA typing in, 16, 163

Maine

McLeod case, 157, 163

number of DNA cases in, 15

reported uses of DNA typing in, 16, 163

Marine Corps (U. S.)

reported use of DNA typing in, 172

see also Military

Maryland

clinical laboratory licensing in molecular biology,

75-76

Cobey case, 108, 163

law addressing the admissibility of DNA in, 14, 107

number of DNA cases in, 15

reported uses of DNA typing in, 16, 163-164

Massachusetts

number of DNA cases in, 15

private access to criminal history files in, 22, 128, 134

proposed law establishing DNA databank in, 16, 20,

124

reported uses of DNA typing in, 16, 164

Match (DNA patterns), considerations for declaring and

reporting, 63-66

Mays, Kimberly, 131

Mays, Robert, 131

Mendel, Gregor, 41

Michigan

number of DNA cases in, 15

proposed law establishing DNA databank in, 16, 20,

124

reported uses of DNA typing in, 16, 164

Military (Us.)

number of DNA cases in, 15

potential use of DNA typing and DNA databanks by,

130

reported uses of DNA typing in, 157, 172

Minnesota

law addressing the admissibility of DNA in, 14, 107

law establishing DNA databank in, 16,20, 123

number of DNA cases in, 15

reported uses of DNA typing in, 16, 164-165

Schwartz case, 105, 108, 157, 165

statistical evidence in, 105, 107

Mississippi

number of DNA cases in, 15

reported uses of DNA typing in, 16, 165

Missouri

number of DNA cases in, 15

reported uses of DNA typing in, 16, 165

Mitochondrial DNA (mtDNA), 51

Moennsens, Andre A., 89

Montana

number of DNA cases in, 15

reported uses of DNA typing in, 16, 165

Mosley, Johnny D., 100

Multilocus probes, 68-69

patterns revealed by, 47

population genetics of, 69

Murder

DNA patterns from actual cases of, 11,50,65

impact of DNA on, 17, 51

incidents reported (1988), 17, 51

recidivism statistics for, 22, 129

National Academy of Sciences, 28,73

National Association of Criminal Defense Lawyers, 73

National College of District Attorneys, 73

National Conference of Commissioners on Uniform State

Laws, role in quality assurance of, 27

National Crime Information Center (NCIC)

DNA information, policy of, 126-127

DNA profiles indexed in, 20, 125

records held by, 125

role in exchanging criminal history information, 125-

127

safeguards for databanks of, 22, 134

National District Attorneys’ Association, 126

National Institute of Justice (NIJ), 31-32,73,75

National Institute of Standards and Technology (NIST),

role in quality assurance of, 28-29, 75

National Institutes of Health (NIH)

Consensus Development program, 28,73-74

FBI joint project with, 141

Recombinant DNA Advisory Committee, monitoring

DNA technologies, 13, 81

National Law Enforcement Telecommunications System

(NLETS), 20,125

National Probation and Parole Association, 126

National Sheriffs’ Association, 126

Nebraska, number of DNA cases in, 15

Negligence litigation, 76

Netherlands, the, 24, 145

Nevada

law addressing the admissibility of DNA in, 14, 107

law establishing DNA databank in, 16,20, 123-124

number of DNA cases in, 15

New Hampshire
194 ● Genetic Witness: Forensic Uses of DNA Tests

number of DNA cases in, 15

reported uses of DNA typing in, 16, 165

New Jersey

number of DNA cases in, 15

reported uses of DNA typing in, 16, 165

New Mexico

number of DNA cases in, 15

reported uses of DNA typing in, 16, 166

New York

Castro case, 103, 157, 166

Forensic DNA Analysis Panel, 152

number of DNA cases in, 15

reported uses of DNA typing in, 16, 166-167

New Zealand, 24, 145

North Carolina

number of DNA cases in, 15

reported uses of DNA typing in, 16, 167

North Dakota, number of DNA cases in, 15

Norway, 24, 145

Office of Technology Assessment (OTA)

findings on validity and reliability of DNA tests by,

7-8,59-60

instrument for survey by, 173-178

reports on human genetics and biotechnology by, 41

results of survey of crime laboratories, 23-26,129,141,

144-153

Ohio

number of DNA cases in, 15

proposed law establishing DNA databank in, 16, 20,

124

reported uses of DNA typing in, 16, 167-168

Oklahoma

number of DNA cases in, 15

reported uses of DNA typing in, 16, 168

Olmstead v. United States, 111

On-Line Mendelian Inheritance in Man (OMIM), 121

Oregon

number of DNA cases in, 15

reported uses of DNA typing in, 16, 168

Paternity cases, 99

child support enforcement, 52

cost savings to court in, 52

DNA patterns from, 9,61

number of facilities handling, 52

Pennsylvania

number of DNA cases in, 15

reported uses of DNA typing in, 16, 168-169

Pitchfork case, 8, 134-135

Poland, 24, 145

Policy, issues and options for Congress, 26-38

Polymerase chain reaction (PCR)

amplification of DNA using, 4,47-50,69-71

computer technologies used with, 117-118

contamination as a problem of, 69-70

controls for, 69-71

HLA DQx+l amplification using, 48-50,70-71, 119

misincorporation with, 70

mitochondrial DNA amplification using, 51

novel applications using, 48,50,51

population genetics considerations for, 70-71

possible technical standards for, 10,69-70

schematic of DNA using, 6,48

use in actual casework, 50, 119

validity and reliability, 59-60

Ponce, Vilma, 103

Popper, Sir Karl R., 57

Population frequencies. See Population genetics; Statistics

Population genetics

disagreement about, 10,66

ethnic and racial considerations in databanks, 20-21,

37,68, 120-122

interpreting DNA test results using, 8-10, 62, 66-71

role in forensic investigations, 6, 134-135

validity of underlying principles applied to forensic

casework, 66

see also Statistics

Privacy, 21-23, 128-136

debates about storing DNA v. storing DNA test results,

21, 132-133

medically informative DNA tests, 21-22, 37-38, 130-

132

personal information and, 128

policy options to address issues in, 35-38

regulations by NCIC to ensure, 22, 134

Privacy Act of 1974

Code of Fair Information Practices as a model for, 127

exemptions for criminal justice agencies, 22, 128, 134

protection of information in Federal databases, 22,128

Probes. See Multilocus probes; Single-locus probes

Proficiency testing

AABB program, 79

controversy over availability and use of results of, 80

controversy over CTS-FSF program, 79

FBI plans for, 80

United Kingdom program, 79

Protein Data Bank (PDB), 121

Protein Identification Resource (PIR), 121

Quality assurance, 83-85

clinical laboratories, 12-13,29,71, 75-76,78, 80

costs of, 14, 79

drug testing laboratories, 12,29,71

Federal role in, 14-16,73-75, 80-82

flexibility in programs for, 14,79

mechanisms for, 11-14, 71-82

policy options for, 27-30

professional societies’ role in, 12,72-73

State role in, 12,75-77

see also Regulation; Standards
In&x*195

Quality control, 62,71

Rape

DNA patterns from actual cases of, 7,50,60, 117

impact of DNA on, 17, 52, 99

incidents reported (1988), 17, 52

recidivism statistics for, 22, 129

Recidivism, 22, 129

Regulation

accreditation, 77-79

certification, 76-77

clinical laboratories as a model for, 12-13, 29, 71,

75-76,77,78,80

drug laboratories as a model for, 12,29,71

Federal role in, 80-82

licensing, 75-76,77

policy options for, 27-30

proficiency testing, 79-80

State role in, 75-77

see also Quality assurance; Standards, setting of

Relevancy test, 14, 16-17,96

comparison to Frye test, 16, 96

expert testimony under, 96

Reliability

increasing challenges to, 8

of DNA test results, 60

of DNA tests per se, 7-8,60

Research, funding for forensic, 31-32

Restriction enzymes, used by FBI and commercial

laboratories, 46

Restriction fragment length polymorphism (RFLP)

analysis and interpretation, 4,4347, 60-68

basis for, 43-44

population genetics, 66-68

see also Multilocus probes; Single-locus probes; Southern blotting; Variable number of tandem repeats

Rhode Island

number of DNA cases in, 15

reported uses of DNA typing in, 16, 169

Right to counsel, 17,98

Schmerber v. California, 97-98

Schwartz, Thomas, 105

Scientific evidence

expert testimony, 91, 93

Frye test, 93,95

relevancy test, 96

standards for admitting, 91, 93

see also Evidence; Statistics

Search and seizure, 17,98, 135

Cobey case, 108

Secret Service (U.S.), 125

Self-incrimination, 17,97-98, 135

Senate Committee on Labor and Human Resources

(U.S.), 3

Sessions, William S., 1, 111

Sexual assault. See Rape

Sheindlin, Judge Gerald, 103

Single-locus probes

analysis and interpretation using, 44-47,60-68

computer analysis of DNA tests using, 114-117, 118

considerations for choosing, 62

controls for test using, 61,62-64

evidence size limitation for analysis with, 47

patterns revealed by, 4,47

population genetics of, 66-68

possible technical standards for, 60-66

reporting that patterns match using, 63-66

schematic using, 5,45

Sixth Amendment to U.S. Constitution, 17,98

Social security number (SSN), use as a nat.ional identifier,

21, 113, 115

Society of Heredity and Evolution, 73

South Africa, 24, 145

South Carolina

Ford case, 89, 169

number of DNA cases in, 15

reported uses of DNA typing in, 16, 169

South Dakota

law establishing DNA databank in, 16,20, 123-124

number of DNA cases in, 15

reported uses of DNA typing in, 16, 169

Southern Association of Forensic Scientists, 77

Southern blotting, 44,4647,60-61

Spencer, Timothy W., 101, 108

Standardization

as distinct from standards, 83

importance to crime laboratories of, 145-146

importance to DNA databanking of, 14,21,46,83,124,

136

international cooperation on, 24, 145

policy options for, 34-35

role in quality assurance of, 83

Standards

controversies over setting, 10-11, 82, 85

crime laboratories’ view of FBI role in, 25, 147

for legal admissibility of scientific evidence, 14,16-17,

91,93,95-96

for PCR, possible technical, 10,69-70

for RFLP analysis, possible technical, 10-11,60-66

operational, 10, 82

policy options for setting, 27-30

technical, 10, 82

see also Guidelines; Quality assurance

Statistics

as evidence in court, 101, 104-105, 107

calculating for RFLP analysis, 67

database considerations of population, 120-122

see also Population genetics

Supreme Court, U.S.

privacy of criminal history records, 134

refusal to hear appeal in Spencer case, 101
196 ● Genetic Witness: Forensic Uses of DNA Tests

ruling on congressional authority to impose conditions

on funds, 81

Sweden, 24, 145

Switzerland, 24, 145

TJ. Hooper, The, 57

Teale, Edwin Way, 39

Technical Working Group on DNA Analysis Methods

(TWGDAM)-FBI

computer database model of, 13, 122, 127, 144

members of, 144

quality assurance program of, 13-14,74-75,77, 144

statistics, 13

Tennessee

number of DNA cases in, 15

reported uses of DNA typing in, 16, 169

Texas

number of DNA cases in, 15

reported uses of DNA typing in, 16, 169-170

Trimboli case, 100, 170

Thompson, Governor James (Illinois), 162

Thorton, John I., 139

Training

policy options for funding, 31

education and requirements for, 76-77

Trimboli, Ronald Stephen, 100, 170

Triple I. See Interstate Identification Index

Twigg, Arlena, 130-131

Twigg case, 130-131

Uhrig, Hal, 39,99

United Kingdom

DNA typing in, 24, 145

DNA’s criminal debut, Leicester case, 8, 135

immigration case, first use in forensic context, 68

multilocus probe analysis in, 47, 68

proficiency testing in, 79

United States v. Williams, 89

University of New Haven (Connecticut), survey of

interest in DNA typing conducted by, 142

Utah

number of DNA cases in, 15

reported uses of DNA typing in, 16, 170-171

Validity

DNA tests per se, 7-8,59-60

principles of population genetics, 10,66

Variable number of tandem repeats (VNTR), 44

Vermont

number of DNA cases in, 15

reported uses of DNA typing in, 16, 171

Virginia

child support enforcement and DNA testing in, 52

law establishing DNA databank in, 16,20, 123-124

number of DNA cases in, 15

onsite DNA testing in, 150-151

reported uses of DNA typing in, 16, 171

Spencer case, 101, 108, 171

Washington

law establishing DNA databank in, 16,20, 123-124

number of DNA cases in, 15

reported uses of DNA typing in, 16, 171-172

Webb, Cathleen Cromwell, 119

West Germany, 24, 145

West Virginia

number of DNA cases in, 15

reported uses of DNA typing in, 16, 172

Woodall case, 108, 157, 172

Williams, John, 39

Wisconsin

number of DNA cases in, 15

reported uses of DNA typing in, 16, 172

Wyoming, number of DNA cases in, 15

Yugoslavia, 24, 145