PRIVACY and PROGRESS

inWhole Genome Sequencing

Presidential Commission 

for the Study of Bioethical Issues

October 2012

PRIVACY and PROGRESS

inWhole Genome Sequencing

Presidential Commission 

for the Study of Bioethical Issues

Washington, D.C.

October 2012

http://www.bioethics.gov
PRIVACY and PROGRESS in Whole Genome Sequencing

ii

ABOUT THE PRESIDENTIAL COMMISSION FOR 

THE STUDY OF BIOETHICAL ISSUES

The Presidential Commission for the Study of Bioethical Issues (the Commission) 

is an advisory panel of the nation’s leaders in medicine, science, ethics, religion, 

law, and engineering. The Commission advises the President on bioethical issues 

arising from advances in biomedicine and related areas of science and technology. 

The Commission seeks to identify and promote policies and practices that 

ensure scientific research, health care delivery, and technological innovation are 

conducted in a socially and ethically responsible manner. 

For more information about the Commission, please see http://www.bioethics.gov.
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CONTENTS

Letter of Transmittal to the President ................................................................................ v

Members of the Commission .............................................................................................vii

Staff and Consultants .........................................................................................................viii

Acknowledgements ...............................................................................................................ix

Executive Summary ..............................................................................................................1

Basic Ethical Principles for Assessing Whole Genome Sequencing ..................... 3

Recommendations ...................................................................................................... 4

Strong Baseline Protections While Promoting Data Access and Sharing .............. 5

Data Security and Access to Databases................................................................... 6

Consent .................................................................................................................... 7

Facilitating Progress in Whole Genome Sequencing .............................................. 9

Public Benefit ........................................................................................................ 11

Introduction .................................................................................................... 13

The Promise of Whole Genome Sequencing.......................................................... 22

Privacy Concerns ...................................................................................................... 23

Policy and Governance ............................................................................................. 26

Ethical Principles ...................................................................................................... 27

Respect for Persons ................................................................................................. 28

Public Beneficence ................................................................................................. 28

Responsible Stewardship ........................................................................................ 29

Intellectual Freedom and Responsibility ............................................................... 29

Democratic Deliberation ...................................................................................... 30

Justice and Fairness ............................................................................................... 30

The Commission’s Process ....................................................................................... 30

About This Report .................................................................................................... 31

CHAPTER 1: Ethical Principles ....................................................................... 33

The Public Benefit of Whole Genome Sequencing ............................................... 35

Privacy Concerns Raised by Whole Genome Sequencing ................................... 36

Privacy and the Law ............................................................................................. 37

The Meanings of Privacy ....................................................................................... 38

Restricted Access .......................................................................................... 38

Autonomy ..................................................................................................... 40

The Value of Medical Privacy ............................................................................... 41
PRIVACY and PROGRESS in Whole Genome Sequencing

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Privacy in Whole Genome Sequencing................................................................. 43

Privacy and the Ethical Principles ....................................................................... 45

Reconciling Competing Ethical Claims ................................................................ 48

Conclusion................................................................................................................. 50

CHAPTER 2: Policy and Governance............................................................................51

Privacy Concerns About Genetic and Whole Genome Sequence Data.............. 52

Current Sharing of Specimens and Whole Genome Sequence Data .................. 54

U.S. Federal Agency Activity................................................................................ 55

Commercial Genetic Testing Companies.............................................................. 59

Privacy Regulations .................................................................................................. 59

U.S. Privacy Regulations...................................................................................... 60

International Approaches to Regulating Genetic Information ............................ 65

Legal Protections of Genetic and Whole Genome Sequence Data .....................66

Conclusion................................................................................................................. 68

CHAPTER 3: Analysis and Recommendations.............................................................71

Strong Baseline Protections While Promoting Data Access and Sharing .......... 74

Data Security and Access to Databases.................................................................. 80

Consent...................................................................................................................... 87

Facilitating Progress in Whole Genome Sequencing............................................ 99

Public Benefit .......................................................................................................... 102

Appendices.....................................................................................................105

Appendix I: Glossary of Key Terms ..................................................................... 106

Appendix II: Genetic and Genomic Background Information ......................... 109

Understanding Basic Genetic Architecture........................................................ 109

Genetic Variation................................................................................................ 112

How Genetic Variants Translate into Disease ....................................................114

Sequencing Strategies .......................................................................................... 116

The Challenges of Analyzing Whole Genome Sequence Data and Identifying 

Disease Associations..............................................................................................117

Appendix III: Guest Presenters to the Commission Regarding Privacy and 

Whole Genome Sequencing ..................................................................................119

Appendix IV: U.S. State Genetic Laws................................................................. 121

Endnotes........................................................................................................125
v

Presidential Commission for the Study of Bioethical Issues

President Barack Obama

The White House

1600 Pennsylvania Avenue, NW

Washington, DC 20500

Dear Mr. President:

On behalf of the Presidential Commission for the Study of Bioethical Issues, we present to you Privacy 

and Progress in Whole Genome Sequencing. In this report, the Commission assessed how to reconcile 

expected societal benefit from advances in whole genome sequencing with privacy risks that fall to the 

individuals who share their genomic data. 

The Commission held four public meetings on this topic and heard from speakers addressing a wide 

range of issues related to this report. The Commission also queried 18 federal agencies about their 

current frameworks for safeguarding genetic and whole genome sequence data and information. In 

addition, the Commission solicited public comment and received numerous informative responses.

Whole genome sequencing promises to provide the means to better understand health and disease 

processes and to tailor personalized therapies that could bring about cures and otherwise enhance 

quality of life for individuals and society broadly. As the cost to sequence an entire human genome 

continues to fall, the potential exists for rapid advances in wellness and health care resulting from 

this new technology. Essential to achieving those advances is the need to share, compare, and pool 

data. However, as the ease with which the acquisition and sharing of whole genome sequencing 

information increases, so do questions and concerns about privacy and security. The Commission 

offers 12 recommendations to improve current practices and to help ensure privacy and security as 

the field of genomics advances.

The Commission recommends strong baseline protections for whole genome sequence data to protect 

individual privacy and data security while also leaving ample room for data sharing opportunities that 

propel scientific and medical progress. Other recommendations include that clinicians and researchers 

use robust and understandable informed consent procedures and engage in productive exchanges of 

those collections of genomic information that are based on such consent procedures. The Commission 

recommends that the federal government facilitate broad public access to the important clinical 

advances that result from whole genome sequencing. The Commission also urges federal and state 

governments to ensure a consistent floor of individual privacy protections covering whole genome 

sequence data across state lines, regardless of how the data were obtained.

The Commission is honored by the trust you have placed in us and we are grateful for the opportunity 

to serve you and the nation in this way.

Sincerely,

Amy Gutmann, Ph.D. 

Chair 

James Wagner, Ph.D.

Vice-Chair

1425 New York Avenue, NW, Suite C-100, Washington, DC 20005

Phone 202-233-3960 Fax 202-233-3990 www.bioethics.gov
PRIVACY and PROGRESS in Whole Genome Sequencing

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vii

PRESIDENTIAL COMMISSION FOR THE STUDY OF BIOETHICAL ISSUES

AMY GUTMANN, Ph.D., CHAIR

President and Christopher H. Browne

Distinguished Professor of Political Science, University of Pennsylvania

JAMES W. WAGNER, Ph.D., VICE CHAIR

President, Emory University

YOLANDA ALI, M.B.A.

Michael J. Fox Foundation

Founder’s Council; 

Emory Neurosciences

Community Advisory Board

ANITA L. ALLEN, J.D., Ph.D.

Henry R. Silverman Professor of Law 

and Professor of Philosophy, 

University of Pennsylvania Law School

JOHN D. ARRAS, Ph.D.

Porterfield Professor of Biomedical

Ethics, Professor of Philosophy,

University of Virginia

BARBAR A F. ATKINSON, M.D.

Executive Vice Chancellor Emeritus, 

University of Kansas Medical Center;

Professor Emeritus of Pathology and 

Laboratory Medicine, University of

Kansas School of Medicine

NITA A. FAR AHANY, J.D., Ph.D.

Professor of Law and Research Professor 

of Genome Sciences and Policy,

Duke University

ALEXANDER G. GARZA, M.D., M.P.H.

Assistant Secretary, Office of Health

Affairs and Chief Medical Officer,

Department of Homeland Security

CHRISTINE GR ADY, R.N., Ph.D.

Chief, Department of Bioethics, 

National Institutes of Health 

Clinical Center

STEPHEN L. HAUSER, M.D.

Robert A. Fishman Distinguished 

Professor and Chair of the Department 

of Neurology, University of California, 

San Francisco

R AJU S. KUCHERLAPATI, Ph.D.

Paul C. Cabot Professor, Department 

of Genetics, Harvard Medical School; 

Professor, Department of Medicine, 

Brigham and Women’s Hospital

NELSON L. MICHAEL, M.D., Ph.D.

Colonel, Medical Corps, U.S. Army;

Director, U.S. Military HIV Research 

Program, Walter Reed Army Institute 

of Research

DANIEL P. SULMASY, M.D., Ph.D., FACP

Kilbride-Clinton Professor of Medicine

and Ethics, Department of Medicine

and Divinity School; Associate Director,

The MacLean Center for Clinical Medical

Ethics, University of Chicago
PRIVACY and PROGRESS in Whole Genome Sequencing

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PRESIDENTIAL COMMISSION FOR THE STUDY OF BIOETHICAL ISSUES 

STAFF* AND CONSULTANTS

Executive Director

Lisa M. Lee, Ph.D., M.S.

Associate Directors

Michelle Groman, J.D.

Kayte Spector-Bagdady, J.D., M. Bioethics

Communications Director

Hillary Wicai Viers, M.S.J.

Senior Advisors

David DeGrazia, Ph.D., M. Stud.

Paul A. Lombardo, Ph.D., J.D.

Jonathan D. Moreno, Ph.D.

Alan Rubel, Ph.D., J.D.

Research Staff

Misti Ault Anderson, M.S., M.A.

Kavita M. Berger, Ph.D.

Rachel S. Bressler, J.D.

Eleanor Celeste, B.A.

Chris Havasy, Sc.B.

Debra J.H. Mathews, Ph.D., M.A.

Eleanor Mayer, J.D., M. Bioethics

Karen Meagher, Ph.D.

Olivia Nevitt, M.P.H.

Anne C. Pierson, J.D.

Elizabeth R. Pike, J.D., LL.M.

Cary Scheiderer, Ph.D.

Michelle Spektor, B.S.

Michael N. Tennison, M.A.

Victoria Wilbur, B.A.

Consultants

Burness Communications

Kathi E. Hanna, M.S., Ph.D.

Administrative Staff

Svetlana Cicale, M.A.

Tynetta Dreher

Rachel Petri, B.A.

Esther E. Yoo, B.A.

Fellows and Interns

Jennifer Dreyfus, M.B.A., M. Bioethics

Taylor Goodspeed, B.A.

Olwen Jaffe, B.A.

Kathleen O’Connor, M.B.A., M.S.W.

Kristina Pyclik, B.A.

Nicolle Strand, B.A.

Raafay Syed, B.A. 

Jennifer Therrien, B.S.

*Includes former and part-time research staff
ix

ACKNOWLEDGEMENTS

The Commission is grateful to the many individuals who contributed their time, 

energy, and expertise to this report. The Commission offers particular thanks to 

the exceptional speakers, many of whom travelled great distances to participate 

in the Commission’s public meetings. The Commission sincerely thanks the 

many people who shared their personal stories. The Commission could not 

include all of their stories in this report, but all of the hopes and concerns that 

they disclosed regarding whole genome sequencing added critical personal insight 

to the Commission’s deliberations and recommendations. The Commission also 

appreciates the dedicated federal department and agency employees who shared 

their experience, expertise, and insight with the Commission. 

The Commission is blessed with an enormously talented staff, and thanks them 

for their painstaking research and thoughtful insights on the practice, promise, 

and ethics of whole genome sequencing. The Commission extends its special 

thanks to Senior Advisors Paul Lombardo and Alan Rubel, and to Executive 

Director Lisa M. Lee who has been a strong and steady guiding force not only 

for the staff but also for this report and the Commission’s public meetings. The 

Commission would also like to thank former Executive Director Valerie Bonham, 

who expertly guided this report through its inception. Associate Director Kayte 

Spector-Bagdady and Senior Policy and Research Analysts Debra J.H. Mathews 

and Cary Scheiderer have earned the Commission’s utmost appreciation for their 

remarkable efforts on its behalf to ensure a comprehensive assessment of this 

important topic.
PRIVACY and PROGRESS in Whole Genome Sequencing

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1

EXECUTIVE SUMMARY
PRIVACY and PROGRESS in Whole Genome Sequencing

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Over the course of less than a decade, whole genome sequencing has 

progressed from being one of our nation’s boldest scientific aspirations to 

becoming a readily available technique for determining the complete sequence 

of an individual’s deoxyribonucleic acid (DNA)—that person’s unique 

genetic blueprint. With this tremendous advance comes the accumulation 

of vast quantities of whole genome sequence data and complex questions of 

how—across a multitude of clinical, research, and social environments—to 

protect the privacy of those whose genomes have been sequenced. Collections 

of whole genome sequence data have already been key to important medical 

breakthroughs, and they hold enormous promise to advance clinical care and 

general health moving forward. To realize this promise of great public good 

ethically, individual interests in privacy must be respected and secured. 

Large-scale collections of genomic data raise serious concerns for the individuals participating. One of the greatest of these concerns centers around 

privacy: whether and how personal, sensitive, or intimate knowledge and use 

of that knowledge about an individual can be limited or restricted (by means 

that include guarantees of confidentiality, anonymity, or secure data protection). Because whole genome sequence data provide important insights into 

the medical and related life prospects of individuals as well as their relatives—

who most likely did not consent to the sequencing procedure—these privacy 

concerns extend beyond those of the individual participating in whole genome 

sequencing. These concerns are compounded by the fact that whole genome 

sequence data gathered now may well reveal important information, entirely 

unanticipated and unplanned for, only after years of scientific progress. 

Another privacy concern associated with whole genome sequencing is the 

potential for unauthorized access to and misuse of information. For example, 

in many states someone could legally pick up a discarded coffee cup and send 

a saliva sample to a commercial sequencing entity in an attempt to discover 

an individual’s predisposition to neurodegenerative disease. The information 

might then be misused, for example, by a contentious spouse as evidence of 

unfitness to parent in a custody case. Or, the information might be publicized 

by a malicious stranger or acquaintance without the individual’s knowledge 

or consent in a social networking space, which could adversely affect that 

individual’s chance of finding a spouse, achieving standing in a community, 

or pursuing a desired career path.
EXECUTIVE SUMMARY

3

Realizing the promise of whole genome sequencing requires widespread public 

participation and individual willingness to share genomic data and relevant 

medical information. This, in turn, requires public trust that any whole 

genome sequence data shared by individuals with clinicians and researchers 

will be adequately protected. Current U.S. governance and oversight of genetic 

and genomic data, however, do not fully protect individuals from the risks 

associated with sharing their whole genome sequence data and information. 

In particular, a great degree of variation exists in what protections states 

afford to their citizens regarding the collection and use of genetic data. Only 

about half of the states, for example, offer protections against surreptitious 

commercial genetic testing.

Currently, the majority of the benefits anticipated from whole genome 

sequencing research will accrue to society, while associated risks fall to 

the individuals sharing their data. This report focuses on reconciling the 

enormous public benefits anticipated from whole genome sequencing research 

with the potential risks to privacy of individuals, and the protections that 

must be foremost in our minds as we focus our policies to facilitate such 

privacy and progress.

Basic Ethical Principles for Assessing Whole Genome Sequencing 

Laws and regulations cannot do all of the work necessary to provide sufficient 

privacy protections for whole genome sequence data. The Commission has 

been mindful of how the five ethical principles set out in its first report, New 

Directions: The Ethics of Synthetic Biology and Emerging Technologies, apply 

to the ethics of whole genome sequencing. These principles—which flow 

from the ideal of respect for persons—are public beneficence, responsible 

stewardship, intellectual freedom and responsibility, democratic deliberation, 

and justice and fairness. This report, Privacy and Progress in Whole Genome 

Sequencing, enlists these principles along with those set forth in the Belmont 

Report (a landmark statement of ethics for research involving human 

participants). Privacy and Progress focuses on recommendations aimed at 

pursuing and securing the public benefits anticipated from whole genome 

sequencing while minimizing the potential privacy risks to individuals.

These principles suggest ethically important and practically useful guidelines 

for whole genome sequencing. Chief among these is the principle of respect 
PRIVACY and PROGRESS in Whole Genome Sequencing

4

for persons, which requires strong baseline protections for privacy and security 

of data, while public beneficence requires facilitating ample opportunities for 

data sharing and access to data by clinicians, researchers, and other authorized 

users. Respect for persons further requires that any collection and sharing of 

individual data be based on a robust process of informed consent. Responsible 

stewardship calls for oversight and management of whole genome sequence 

information by funders, managers, professional organizations, and others. The 

principle of intellectual freedom and responsibility provides further support 

for pursuing whole genome sequencing and seeking models for broad data 

sharing by promoting regulatory parsimony. Democratic deliberation urges 

all parties to consider changes to policies and practices in light of the evolving 

science and its implications for enduring ethical values. Finally, justice 

and fairness requires that we seek to channel the benefits of whole genome 

sequencing to all who can potentially benefit, and to ensure that the risks 

are not disproportionately borne by any subset of the population, including 

vulnerable or marginalized groups. 

Recommendations

Currently we are in a period of intense transition with respect to integrating 

whole genome sequencing into clinical care, as well as facilitating access to 

and use of whole genome sequence data for research purposes. Moreover, the 

challenges we face today are not precisely the same challenges we will face 

in one, five, or ten years, as genomic technologies continue to develop and 

mature. Due to the rapid development of technology, we need to craft policies 

that are flexible and agile enough to ensure that we do not constrain our 

ability to adapt to evolving technology and social norms related to privacy 

and access.

Recognizing that ethical obligations reach beyond what is legally enforceable, 

the Commission examines both the relevant ethical principles and the 

relevant legal requirements to offer guidance as to what (ethically) ought to 

be done and what (legally) must be done. This is the foundation on which the 

Commission builds its Privacy and Progress recommendations.
EXECUTIVE SUMMARY

5

Strong Baseline Protections While Promoting Data Access and Sharing

Presently, many national and state policies are in place to guard personally identifiable health information and records of participation in research. 

These policies should apply to all handlers of the data, from those who collect 

the data, to researchers who use them, to third-party storage and analysis 

providers (e.g., hosts of cloud computing services). Privacy protections should 

guard against unauthorized access to, and illegitimate uses of, whole genome 

sequence data and information while allowing for authorized users of these 

data to advance individual and public health. 

Recommendation 1.1

Funders of whole genome sequencing research; managers of research, clinical, 

and commercial databases; and policy makers should maintain or establish 

clear policies defining acceptable access to and permissible uses of whole 

genome sequence data. These policies should promote opportunities for 

models of data sharing by individuals who want to share their whole genome 

sequence data with clinicians, researchers, or others.

Strong baseline privacy protections require a spectrum of policies starting with 

data handling through the protection of persons from future disadvantage 

and discrimination arising from misuse of their whole genome sequence data. 

It is critical, however, to ensure that privacy regulations allow individuals to 

share their own whole genome sequence data with clinicians, researchers, and 

others in ways that they choose.

Recommendation 1.2

The Commission urges federal and state governments to ensure a consistent 

floor of privacy protections covering whole genome sequence data regardless 

of how they were obtained. These policies should protect individual privacy 

by prohibiting unauthorized whole genome sequencing without the consent 

of the individual from whom the sample came.

Treating like data alike is crucial to ensuring consistent protections for whole 

genome sequence information across the United States. Although states 

should enact genomic policies that are most relevant and important to their 

constituents, bringing such protections to a minimum standard that addresses 
PRIVACY and PROGRESS in Whole Genome Sequencing

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privacy—while still allowing individuals to share their own data—would 

provide just and fair protections regardless of where one happens to reside. 

Data Security and Access to Databases

Data privacy requires data security. Data security requires ethical responsibility and accountability from all those who handle whole genome sequence 

data. It must further be supported by policies and infrastructure to protect 

safe sharing of data. 

Recommendation 2.1

Funders of whole genome sequencing research; managers of research, clinical, 

and commercial databases; and policy makers should ensure the security of 

whole genome sequence data. All persons who work with whole genome 

sequence data, whether in clinical or research settings, public or private, 

must be: 1) guided by professional ethical standards related to the privacy 

and confidentiality of whole genome sequence data and not intentionally, 

recklessly, or negligently access or misuse these data; and 2) held accountable 

to state and federal laws and regulations that require specific remedial or 

penal measures in the case of lapses in whole genome sequence data security, 

such as breaches due to the loss of portable data storage devices or hacking.

Many observe that absolute privacy is not possible in this, or many other 

realms. The greater potential for harm is not by virtue of authorized others 

knowing about one’s whole genome make-up, but rather through the misuse of 

data that have been legally accessed. 

Recommendation 2.2

Funders of whole genome sequencing research; managers of research, 

clinical, and commercial databases; and policy makers must outline to 

donors or suppliers of specimens acceptable access to and permissible use of 

identifiable whole genome sequence data. Accessible whole genome sequence 

data should be stripped of traditional identifiers whenever possible to 

inhibit recognition or re-identification. Only in exceptional circumstances 

should entities such as law enforcement or defense and security have access 

to biospecimens or whole genome sequence data for non health-related 

purposes without consent.
EXECUTIVE SUMMARY

7

The consent process should communicate limits on access to and use of 

genomic data to those having their whole genome sequenced in clinical care, 

research, and consumer-initiated contexts. These policies should apply to the 

original recipient of the data as well as to all parties who work with the data, 

from those who collect the sample or data through third-party storage and 

analysis service providers. Those who work with whole genome sequence data 

should remain current on regulations regarding data privacy and security.

Recommendation 2.3

Relevant federal agencies should continue to invest in initiatives to ensure that 

third-party entrustment of whole genome sequence data, particularly when 

these data are interpreted to generate health-related information, complies 

with relevant regulatory schemes such as the Health Insurance Portability 

and Accountability Act and other data privacy and security requirements. 

Best practices for keeping data secure should be shared across the industry to 

create a solid foundation of knowledge upon which to maximize public trust.

Whole genome sequence data not stripped of traditional identifiers are 

considered “protected health information” and are covered under the Health 

Insurance Portability and Accountability Act’s Privacy, Security, and Enforcement Rules and the federal Common Rule for protecting human research 

participants. The same regulations, policies, and ethical guidelines that 

protect such health information should also be in place to govern the sharing 

of whole genome sequence data with third-party storage and analysis service 

providers. Public and the private sector parties should share their lessons 

learned to promote efficiency and avoid duplicating efforts.

Consent

Not unique to whole genome sequencing, a well-developed, understandable, 

informed consent process is essential to ethical clinical care and research. 

To educate patients and participants thoroughly about the potential risks 

associated with whole genome sequencing, the consent process must include 

information about what whole genome sequencing is; how data will be 

analyzed, stored, and shared; the types of results the patient and participant 

can expect to receive, if relevant; and the likelihood that the implications of 

some of these results might currently be unknown, but could be discovered in 
PRIVACY and PROGRESS in Whole Genome Sequencing

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the future. Respect for persons requires obtaining fully informed consent at 

the outset of diagnostic testing or research.

Recommendation 3.1

Researchers and clinicians should evaluate and adopt robust and workable 

consent processes that allow research participants, patients, and others to 

understand who has access to their whole genome sequences and other data 

generated in the course of research, clinical, or commercial sequencing, and to 

know how these data might be used in the future. Consent processes should 

ascertain participant or patient preferences at the time the samples are obtained.

Recommendation 3.2

The federal Office for Human Research Protections or a designated central 

organizing federal agency should establish clear and consistent guidelines for 

informed consent forms for research conducted by those under the purview of 

the Common Rule that involves whole genome sequencing. Informed consent 

forms should: 1) briefly describe whole genome sequencing and analysis; 2) 

state how the data will be used in the present study, and state, to the extent 

feasible, how the data might be used in the future; 3) explain the extent to 

which the individual will have control over future data use; 4) define benefits, 

potential risks, and state that there might be unknown future risks; and 5) 

state what data and information, if any, might be returned to the individual.

Each Common Rule agency has its own enforcement authorities to protect 

research participants. All agencies should work together as they develop clear 

and consistent guidelines for their informed consent forms. Clinical consent 

documents for whole genome sequencing will have to address a number of 

issues specific to whole genome sequencing: an explanation of the science, 

whether whole genome sequence data collected for clinical applications will 

be made available for research purposes, and what types of results will be 

produced through whole genome sequencing. For example, an important 

unsettled issue is the ethics of reporting incidental findings to individuals—

that is, information gleaned from whole genome sequencing research or 

clinical practice that was not its intended or expected object.
EXECUTIVE SUMMARY

9

Recommendation 3.3

Researchers, clinicians, and commercial whole genome sequencing entities 

must make individuals aware that incidental findings are likely to be 

discovered in the course of whole genome sequencing. The consent process 

should convey whether these findings will be communicated, the scope of 

communicated findings, and to whom the findings will be communicated.

Recommendation 3.4

Funders of whole genome sequencing research should support studies to 

evaluate proposed frameworks for offering return of incidental findings and 

other research results derived from whole genome sequencing. Funders should 

also investigate the related preferences and expectations of the individuals 

contributing samples and data to genomic research and undergoing whole 

genome sequencing in clinical care, research, or commercial contexts.

Individuals undergoing whole genome sequencing in research, clinical, 

and commercial contexts must be provided with sufficient information in 

informed consent documents to understand what incidental findings are, and 

to know if they will or will not be notified of incidental findings discovered 

as a result of whole genome sequencing. 

Facilitating Progress in Whole Genome Sequencing

Currently, large amounts of patient data are being collected in the health care 

setting, stripped of traditional identifiers, analyzed, and fed into research that 

might one day improve clinical care. This “learning health system” model 

both translates advances in health services research into clinical applications 

and collects data during clinical care to facilitate further advances in research. 

Learning health system advocates and others support standardized electronic 

health record systems and infrastructure to facilitate health information 

exchange so that data can be easily aggregated and studied. Integrating whole 

genome sequence data into health records in the learning health system model 

can provide researchers with more data to perform genome-wide analyses, 

which in turn can advance clinical care.
PRIVACY and PROGRESS in Whole Genome Sequencing

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Recommendation 4.1

Funders of whole genome sequencing research, relevant clinical entities, 

and the commercial sector should facilitate explicit exchange of information 

between genomic researchers and clinicians, while maintaining robust data 

protection safeguards, so that whole genome sequence and health data can be 

shared to advance genomic medicine.

Current sequencing technologies and those in development are diverse and 

evolving, and standardization is a substantial challenge. Ongoing efforts are 

critical to achieving standards for ensuring the reliability of whole genome 

sequencing results, and facilitating the exchange and use of these data.

Recommendation 4.2

Policy makers should promote opportunities for the public to benefit from 

whole genome sequencing research. Further, policy makers and the research 

community should promote opportunities for the exploration of alternative 

models of the relationship between researchers and research participants, 

including participatory models that promote collaborative relationships.

Respect for persons implies not only respecting individual privacy, but also 

respecting research participants as autonomous persons who might choose 

to share their own data. Public beneficence is advanced by giving researchers 

access to plentiful data from which they can work to advance health care. 

Regulatory parsimony recommends only as much oversight as is truly necessary and effective in ensuring an adequate degree of privacy, justice and 

fairness, and security and safety while pursuing the public benefits of whole 

genome sequencing. Therefore, existing privacy protections and those being 

contemplated should be parsimonious and not impose high barriers to data 

sharing. While the Commission supports the intellectual freedom this access 

will encourage, clinicians and researchers must also act responsibly to earn 

public trust for the research enterprise.
EXECUTIVE SUMMARY

11

Public Benefit

Thousands of citizens have participated in whole genome sequencing research 

personally, and all citizens help to support government investment in whole 

genome sequencing through their general participation in and support of our 

political system. Therefore, all citizens should have the opportunity to benefit 

from medical advances that result from whole genome sequencing. 

Special caution should be taken on the part of researchers to ensure that 

their participants accurately reflect as much as possible the rich diversity of 

our population. Different groups have genomic variants at different frequencies within their populations, and sufficiently diverse data must be collected 

so that advances arising from whole genome sequencing can be used for the 

benefit of all groups.

Recommendation 5

The Commission encourages the federal government to facilitate access to 

the numerous scientific advances generated through its investments in whole 

genome sequencing to the broadest group of persons possible to ensure that 

all persons who could benefit from these developments have the opportunity 

to do so.

Government investment in genomic research has resulted in public benefit 

through improved health care and in economic return on investment. The 

principle of justice and fairness requires that the benefits and risks of whole 

genome sequencing be distributed equitably across society. Research funded 

with taxpayer contributions should benefit all members of society. To these 

ends, researchers should be vigilant about including individuals from all sectors 

of society in their studies, so that research findings can be translated widely 

into improved clinical care. The federal government should follow through 

on its investment in research and assure that the discoveries of whole genome 

sequencing are integrated with clinical care to benefit the health of all. 
PRIVACY and PROGRESS in Whole Genome Sequencing

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13

INTRODUCTION
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The Potential of Whole Genome Sequencing

In 1996, Retta Beery gave birth to apparently healthy twins Alexis and Noah.1

It soon became clear, however, that something was wrong; the twins cried 

nonstop and had developmental problems. Over the next two years, Retta and 

her husband Joe endured the physical, emotional, and financial costs of visiting 

numerous specialists, putting their young twins through countless tests, and having 

their children undergo surgery. None of these steps provided results or solutions. 

In 1998, the twins were diagnosed with cerebral palsy and a related course 

of treatment was outlined. Although the treatment yielded some symptomatic 

improvement, Retta felt that the diagnosis was incorrect. In 2002, the Beerys 

were starting to look at wheelchairs and feeding tubes when Retta, after four 

years of research, stumbled upon an article on DOPA-responsive dystonia (also 

known as Segawa’s dystonia) and suspected that this was the disease that the twins 

had. The Beerys contacted a specialist, and after a physiological test the twins 

were diagnosed with Segawa’s dystonia. They began a new course of treatment to 

increase brain dopamine, which yielded a dramatic improvement in their health. 

In 2009, Alexis developed breathing problems and was forced again to 

endure multiple emergency room visits and a battery of tests and visits to 

specialists. In August 2010, the Beerys went to Baylor College of Medicine 

for diagnostic whole genome sequencing. By November, Alexis’s and Noah’s 

whole genomes had been sequenced. Their data were compared to other 

whole genome sequences in databases, such as the Baylor Human Genome 

Sequencing Center’s database, to reveal what was unique about the Beery 

twins’ genomes. Clinicians now had answers for the family. The geneticists 

had uncovered an extremely rare and only recently recognized genetic cause of 

DOPA-responsive dystonia producing a deficiency of not only dopamine but 

also serotonin production in the brain. Armed with this new information, 

the Beerys returned to their neurologist, who amended the treatment regimen 

for Alexis and Noah with an over-the-counter supplement. Within a month, 

Alexis’s breathing problems disappeared.

As a result of that final piece of the puzzle—the information provided by whole 

genome sequencing—Alexis is able to breathe normally and can now even 

compete in sports. Both children have a definitive diagnosis, and are expected 

to live long, healthy lives. 
INTRODUCTION

15

The Challenge of Privacy

Victoria Grove’s sisters struggled with a difficult genetic diagnosis: alpha-1 

antitrypsin deficiency. The genetic illness meant that her sisters’ bodies did not 

make enough of a protein that protected their lungs and liver from damage, 

which could lead to emphysema and liver disease. 

Victoria wanted to help them, and in 2004 agreed to enroll in a research study 

of families with alpha-1 antitrypsin deficiency. “I just knew I didn’t have it, so 

I signed up for the study.” But the tests came back positive—Victoria had the 

same genetic mutation as her sisters. She did not yet have any symptoms, and 

wanted to keep her test results private, so she did not tell her doctor. 

In 2005, Victoria got tested again to confirm the research study results. She 

used a private company and had the results sent directly to her. Victoria’s 

second test came back positive, and she chose again not to send the results to her 

doctor, fearing that the information would be included in her medical record. 

Victoria worried that this information could lead her insurance company to 

drop her coverage or charge her higher rates. Victoria kept her genetic results 

private for nearly three years. 

The pivotal moment came when Victoria felt she was coming down with a bout 

of pneumonia but could not convince the nurse practitioner who saw her to 

order the X-ray necessary to prescribe antibiotics. Victoria went home without 

antibiotics, her condition worsened, and she called back a few days later. The 

nurse asked Victoria to come in again, but Victoria told them she could not 

drive across town in the snowstorm that had immobilized the city. She could, 

however, get to a pharmacy near her house if the office called in the antibiotics. 

The nurse on the phone insisted this was not possible. “My emotions just took 

hold and I cried ‘I have alpha-1 and I need that antibiotic,’” Victoria said. “At 

that point the cat was out of the bag.”

Today Victoria gets regular treatments for her condition. She recognizes that 

fear kept her from providing her clinicians with crucial information. Still, she 

can’t convince either her brother or her son to get tested for alpha-1. Victoria 

says both men are aware that there is federal protection from discrimination 

in employment and health insurance, but fear that these laws will not provide 

sufficient protection. Her son already has to buy his own health insurance; he 
PRIVACY and PROGRESS in Whole Genome Sequencing

16

does not want any information in his medical record that could jeopardize 

his job or his access to health insurance. “I can imagine in a job situation, it’s 

expensive to take on someone if they’re ill. And you can always get rid of people 

for other reasons. I assume that’s going on.”

Whole genome sequencing offers great promise of medical advances that 

could benefit all of society, but this promise is tempered by the concerns of 

individual privacy. This tension between medical progress and the risks to 

privacy from whole genome sequencing is the subject of this report. To use 

whole genome sequencing to discover the changes in deoxyribonucleic acid 

(DNA) that underlie disease, scientists and clinicians must have access to 

whole genome sequence data from many individuals (for the definitions of 

scientific terms used in this report, see Appendix I: Glossary of Key Terms). 

Continued advances therefore depend on large numbers of individuals who 

are willing to share their whole genome sequence data for research purposes. 

Further, scientists are better able to make connections between variations in 

whole genome sequence data and specific diseases when additional health and 

demographic information accompanies these data. But this additional information might make it easier to identify an individual and discover his or 

her private health information.2

 Thus, while society stands to benefit from 

advances in improved medical treatment and diagnosis from whole genome 

sequencing, the privacy risks associated with sharing whole genome sequence 

data fall predominantly on the individuals themselves.

Whole genome sequencing is a technique that determines the complete 

sequence of DNA in an individual’s cells (See Figure 1. For more information 

regarding the science of whole genome sequencing, see Appendix II: Genetic 

and Genomic Background Information). Whole genome sequencing reveals 

the genetic blueprint for a person, generating information on every gene in the 

nucleus of one’s cells. Each person’s DNA is unique, and changes in DNA can 

lead to disease. The ability to link variations in DNA with health and disease 

outcomes, a process still in its infancy, holds promise for substantial public 

benefit.3

 These benefits have the potential to alter the way we treat cancer, 

heart disease, diabetes, Alzheimer’s disease, schizophrenia, and countless 

other illnesses.
INTRODUCTION

17

Figure 1: The Structure of DNA

Base pairs are combined 

into sets called genes

Individual gene sequences code for unique proteins

Proteins work

together to enable 

cells to function

DNA (Deoxyribonucleic acid)

Gene A

Protein A Protein B Protein C

Gene B Gene C

Chromosome

Genome

Cell

Nucleus

Nearly every cell in

the body contains

a complete copy

of the genome

The human genome is made up

of approximately 3 billion base pairs

G G

CC

A A

T T

Sugar-phosphate backbone

Base pair

The Commission believes that the ethical principles and recommendations in 

this report should not be limited to whole genome sequencing. Whole genome 

sequencing is the focus of this report because of its current promise to advance 

health. The ideas in this report, however, apply broadly to all studies using 

large-scale genetic and genomic data and information, including whole exome 

sequencing, genome-wide SNP analysis, and other large-scale genomic studies. 

The tools used to decipher and study whole genomes are evolving rapidly, and 

it is not clear what additional technologies will emerge in the near future. 

What is clear is that all current genetic and genomic research can be measured 

against the ethical principles and recommendations described in this report, 

and the Commission is optimistic that its recommendations will specifically 

accommodate future advances in large-scale sequencing and analysis. 
PRIVACY and PROGRESS in Whole Genome Sequencing

18

Current clinical uses of DNA information 

are limited mostly to specific genetic tests. If 

clinicians suspect a particular disease with a 

known genetic cause, such as Huntington’s 

disease, they can order a genetic test looking 

at one specific gene among the more than 

20,000 genes in the human genome. These 

tests examine only a few of the whole 

genome’s three billion pairs of building 

blocks. The price of sequencing a whole 

genome is dropping rapidly, however, and 

soon it will be less expensive to sequence 

an entire genome than to perform a few 

individual genetic tests. Once this happens, 

whole genomes might be sequenced in lieu of 

discrete genetic tests, and such information 

can be stored in a patient’s medical records. 

Then, if a clinician would like to find out 

something about a patient’s DNA in the 

future, he or she could examine the whole 

genome sequence data already stored in that 

patient’s record. For example, a patient’s 

response to a particular dose of warfarin, 

a drug that helps prevent blood clotting, is 

partly dependent on his or her genetic makeup. A clinician with access to a patient’s 

whole genome sequence can use it to identify 

drug sensitivity and reduce the time required 

to achieve the optimal dosage.4

The sheer amount of information contained 

in our genomes is what makes whole genome 

sequence data different from other medical 

information. Our whole genome sequence 

data can reveal predispositions to diabetes, 

cancer, or psychiatric conditions. The data 

TERMINOLOGY

Whole genome sequencing: 

determining the order of 

nucleotide bases—As, Cs, 

Gs, and Ts—in an organism’s 

entire DNA sequence

Whole genome sequence 

data: the file of As, Cs, Gs, 

and Ts that results from whole 

genome sequencing

Whole genome sequence 

information: facts derived 

from whole genome sequence 

data, such as predisposition to 

disease 

Genomics: the study of all 

the DNA (the genome) in an 

individual, and how parts of 

the genome interact with each 

other and the environment

Genetic test: a discrete test 

that examines a specific genetic 

location or a single gene, such 

as the test for Huntington’s 

disease 

Genotyping: analyzing a 

handful to thousands of 

discrete variants across the 

genome (i.e., more than a 

discrete genetic test, but 

less than whole genome 

sequencing)

For additional terminology, 

please see Appendix I: Glossary 

of Key Terms and Appendix 

II: Genetic and Genomic 

Background Information.
INTRODUCTION

19

can also reveal variations in DNA that are not yet understood. For example, 

an apparently healthy individual could be missing a small piece of DNA. The 

person seems healthy, but will that variant cause a problem in the future? 

Over 20,000 individual human genes have been identified. A major recent 

advance by the National Institute of Health’s (NIH) Encyclopedia of DNA 

Elements (ENCODE) project greatly enhanced our knowledge of the function 

of the genome through a flurry of scientific publications, finding that 80 

percent of the genome has a “biochemical function.”5

 For years, that number 

had stood at 10 percent.6

 Eric Lander, president of the Broad Institute, 

compared the results of the Human Genome Project, which sequenced the 

first full human genome, to a picture of the Earth from space, and compared 

the ENCODE project to Google Maps. The ENCODE Project is a major 

step toward demonstrating the function of the whole genome sequence that 

was determined in the Human Genome Project, much like Google Maps 

can refine a snapshot of the Earth by showing traffic, alternate routes, and 

the location of landmarks.7

 The function of 20 percent of the non-coding 

regions—regions of DNA that do not contain specific instructions for making 

proteins—is still unknown, but these regions might have functions that are 

yet to be determined.

Unlike genetic testing—which looks at the specific parts of the genome to 

reveal a variant at a specific location of a single gene indicating a particular 

disease—whole genome sequencing reveals an individual’s entire genome, 

including all variants within the genome. These variants are changes in the 

DNA sequence and range in size from small changes like a single base pair 

change, to larger changes such as a deletion of a portion of the DNA strand. 

As more information about our genomes becomes available, variants that 

might be revealed by whole genome sequencing include: specific known 

disease variants; variants of unknown significance (e.g., an unknown 

variant in the region that increases risk for heart disease); nonmedical 

genetic traits, including hair and eye color; carrier status variants, including 

variants that do not cause disease in the individual but could be passed 

on, such as mutations for hemophilia or cystic fibrosis; susceptibility genes, 

such as those that slightly increase susceptibility to diabetes, heart disease, 

or some cancers; and genes for conditions with late onset that will not 

affect an individual until much later in life, such as Alzheimer’s disease 
PRIVACY and PROGRESS in Whole Genome Sequencing

20

and Huntington’s disease.8 Only a small 

number of the genetic variants that whole 

genome sequencing might reveal have yet 

been studied enough to substantiate their 

connection to disease.9

“And so having the genome 

may be not incredibly powerful 

right now, but it opens the 

door to outrageous rates of 

discovery, which I’m pretty 

certain are going to happen 

over the next five to ten years.” 

Leonard D’Avolio, Associate Center 

Director for Biomedical Informatics, 

Massachusetts Veterans Epidemiology 

Research and Information Center, 

Department of Veterans Affairs, 

Instructor, Harvard Medical School. 

(2012). Genomic Privacy, Data Access, 

and Health IT. Presentation to PCSBI, 

May 17, 2012. Retrieved from http://

bioethics.gov/cms/node/713.

Whole genome sequencing also raises many 

potential concerns for individuals. One 

might shoulder the burden of knowing 

medical information regarding future 

adverse health conditions for which there 

is currently no treatment. Whole genome 

sequencing raises concerns about our privacy 

as well. Just as patients would not want to 

give anyone access to their medical record, 

many people might not want others to have access to their whole genome 

sequence data and information. With unauthorized access comes concerns 

about misuse of information. For example, someone could pick up a discarded 

coffee cup and send a sample of saliva—which contains DNA—from the 

rim of the cup to a commercial sequencing entity in an attempt to discover 

an individual’s predisposition to neurodegenerative disease. The information 

might then be misused by publicizing it in a social networking space, which 

could derail that individual’s chance of finding a spouse, achieving standing 

in a community, or pursuing a certain career path.

To yield medically useful information, an individual’s genomic sequence data 

needs to be coupled with clinical information about disease and compared to 

other genomic sequence data. Further, genomic research is complex because 

each person’s DNA naturally has thousands of variants, and the vast majority 

of these variants do not cause disease. The research and clinical power of 

whole genome sequencing lies in being able to compare a large number of 

whole genome sequence data sets that are linked with relevant health and 

disease states. This type of study allows researchers to identify sequence 

variations and associations between whole genome sequence variations and 

disease. For this reason, scientists need whole genome sequence data to be 

linked to clinical, laboratory, and socio-demographic data. This linking can 

be done by entering only relevant information (e.g., disease state or symptoms) 
INTRODUCTION

21

and excluding personally identifiable information, such as an individual’s 

name or address; but without access to relevant medical data, links between 

whole genome sequence variations and disease could not be identified.

Recent technological advances have facilitated storing and sharing of whole 

genome sequence data. Whole genome sequence data and associated health 

information can now be stored in genomic databases and biorepositories 

that contain digital information and physical samples, respectively, from 

large numbers of persons. By using these resources, researchers will have the 

volume of data they need to advance medical understanding for the public 

good through genomics. However, this data storage and sharing raises its own 

questions: How does one securely store these huge data files? Who should 

have access to these data files? How can these data be used productively, and 

how might they be misused? What constitutes “misuse”? What should the 

penalties be for misusing these data? The summation of all these issues—the 

unknowns, privacy, consent, data security, and data storage involved in whole 

genome sequencing—will require careful and sustained ethical attention.

This report delves into two crucial questions: What information about an 

individual’s whole genome should remain private, and when should it remain 

private? The Commission explores how, when, and why genomic information 

should remain subject to clear rules of confidentiality, secrecy, information 

security, decisional autonomy, and freedom from unwanted intrusion out of 

respect for individuals. Without trust in the confidentiality and security of the 

data, individuals could be less likely to participate in research. Conversely, with 

well-founded trust that their sense of privacy will be honored, individuals are 

treated with the respect to which they are entitled and might be more likely to 

contribute to the research enterprise that promises important public benefits.

This report therefore aims to pursue and secure the public benefit anticipated 

from whole genome sequencing while minimizing the potential privacy risks 

to individuals. The recommendations draw upon the principles that flow from 

the ideal of respect for persons, and are set forth in the Belmont Report, a 

landmark statement of ethics for research involving human participants, and 

those outlined in the Commission’s first report New Directions: The Ethics of 

Synthetic Biology and Emerging Technologies.

10
PRIVACY and PROGRESS in Whole Genome Sequencing

22

The Promise of Whole Genome Sequencing

Whole genome sequencing can help researchers and clinicians better 

understand the unique qualities of a disease, and, especially when combined 

with other information, might help select treatment methods.11 Researchers 

already have been able to help clinicians aid some children born with rare birth 

defects by sequencing and analyzing their whole genomes to diagnose and treat 

their illnesses.12 Researchers are also teaming up with clinicians in using whole 

genome sequence data to advance personalized medicine, including predicting 

an individual’s risk for a heart attack or determining the best dosage of 

medication for an individual.13 Researchers recently determined a fetal whole 

genome sequence using a blood sample from the mother, an innovation that 

could soon reach the clinic.14 And this is only the beginning of the whole 

genome sequencing era, which has the potential to revolutionize medicine. 

In 2000, the cost of sequencing a single human genome was estimated to 

be 2.5 billion dollars; it is anticipated that this cost will soon be $1,000. As 

the cost falls, whole genome sequencing will be increasingly integrated into 

clinical care. Clinicians can—and many will—incorporate whole genome 

sequence information into the clinic to promote the practice of personalized 

medicine.15 Nevertheless, little has been written about the ethical concerns 

of integrating whole genome sequencing into the clinical context, which is 

particularly problematic given the speed with which this could occur.16 The 

Commission therefore presents its recommendations mindful of the changing 

uses and implications of whole genome sequencing. Although this report 

focuses on issues related to privacy and sharing of whole genome sequence 

data, the Commission recognizes that another important unsettled issue is 

the ethics of reporting incidental findings to individuals—that is, information 

gleaned from whole genome sequencing research or clinical practice that was 

not its intended or expected object. The Commission plans to take up the 

issue of incidental findings in the future. 
INTRODUCTION

23

Privacy Concerns

At age 13, Brian Hurley learned from an ophthalmologist that he had retinitis 

pigmentosa and that at some unknown point in his life he would go blind. 

During high school, Brian learned about careers in law and thought this was 

something he could do well, regardless of eyesight. When he started law school, 

however, he realized he did not like it. Brian needed to find something he 

could do and wanted to do—not just something a blind person was considered 

capable of doing. 

Brian felt tremendous pressure to resolve his career path before he lost his 

vision: “In the beginning of a career, you try to figure out what you are good 

at and hopefully enjoy, but I was more concerned about could I do it well 

when blind.” Brian spent hours online searching for careers that might work, 

and successful blind professionals that he could use as role models. “It was like 

having a time bomb inside of me,” Brian said.

After college, Brian experienced a steady decline in his peripheral vision. At 

age 27, Brian stopped driving. During this time, Brian’s actual symptoms did 

not match the decline of his emotional state. Brian said he was so panicked 

that it took the joy out of his last few years before becoming legally blind. “If 

you took my mental condition, I might as well have been blind already.”

Then, at 33, Brian lost the majority of his eyesight. “The irony is, anticipation 

was much worse than the actual loss. It was a relief to stop worrying when the 

loss would occur.”

Today, at 39, and relieved of the anticipation, he enjoys his current role as 

a Public Affairs Program Director. Brian refuses to let his vision loss be an 

obstacle to his professional and personal goals.

 Brian recently learned of the eyeGENE® program at the National Institutes of Health. He wants to help with eye research—specifically research 

related to retinitis pigmentosa. He knows research is important and wants 

to contribute his data to help others. He does not, however, want his whole 

genome sequenced in the course of participating in research. 

Before enrolling in the eyeGENE® program, Brian spent three days with a 

lighted magnifier and 20 pages of consent forms to ensure that researchers 
PRIVACY and PROGRESS in Whole Genome Sequencing

24

would not sequence his entire genome and that they will not divulge findings 

about other diseases to him. Having lived with one time bomb, Brian understands its collateral damage. He never wants to carry that burden again. In his 

situation, Brian feels that having less information is better.

With regard to whole genome sequence data, privacy concerns are more 

complex than a simple decision about whether to undergo whole genome 

sequencing and, if so, whether the data should be included with an individual’s medical record. Individuals might have good reason for wanting to share 

particular parts of their genomic data—such as for the purposes of research—

but might also want to limit the extent to which others can access these data. 

The prevention of unauthorized use or disclosure of medical information about 

specific individuals has long been a serious ethical concern. Whole genome 

sequencing dramatically raises the privacy stakes because it necessarily involves 

examining and sharing large amounts of biological and medical information 

that is not only inherently unique to a single person but also has implications 

for blood relatives. Genomic information is inherited and determines traits 

like hair and eye color. Unlike a decision to share our hair or eye color, which 

does not reveal anything about our relatives that is not observable, a decision 

to learn about our own genomic makeup might inadvertently tell us something 

about our relatives or tell them something about their own genomic makeup 

that they did not already know and perhaps do not want to know. More than 

other medical information, such as X-rays, our genomes reveal something 

both objectively more comprehensive and subjectively (to many minds) more 

fundamental about who we are, where we came from, and the health twists 

and turns that life might have in store for us.

The fact that whole genome sequence information is uniquely connected 

to our conceptions of self is what could cause the inappropriate disclosure 

or misuse of this information to be so harmful. In theory, whole genome 

sequence information could be used to deny financial backing or loan 

approval, educational opportunities, sports eligibility, military accession, 

or adoption eligibility.17 Disclosing genomic information could affect the 

opportunities available to individuals, subject them to social stigma, and 
INTRODUCTION

25

cause psychological harm. The full extent of 

what whole genome sequencing can reveal 

is unknown, but we know that having 

one’s whole genome sequenced today could 

reveal genetic variants that increase the risk 

for certain conditions such as Alzheimer’s 

disease, which many people either do not 

want to know about themselves or others to 

know about them.

It is understandable, therefore, that whole 

genome sequencing heightens concerns 

about how unauthorized disclosure can threaten one’s individual privacy. But 

determining what privacy requires in the whole genome context is not straightforward. In the legal context, privacy is multidimensional and includes physical, 

informational, decisional, proprietary, associational, and intellectual aspects.18

While there is no consensus definition of privacy, in this report we consider 

privacy to be a general concept that includes confidentiality, secrecy, anonymity, 

data protection, data security, fair information practices, decisional autonomy, 

and freedom from unwanted intrusion.19 Whole genome sequencing calls for 

serious consideration of each of these components and their related ethical 

concerns. It also is important to recognize at the outset that, in some significant respects, parts of our genomic information are not and cannot be wholly 

private. When we routinely provide a blood sample in a clinical exam, decide to 

submit a DNA sample to be used in research, or unintentionally leave behind 

traces of DNA on a coffee cup that we discard in a public waste bin, we are 

providing some other individuals the opportunity to learn something about us. 

While doing everything possible to prevent any use of whole genome sequence 

data certainly would provide strong privacy protection, it would fail to allow 

the anticipated public benefit that is to be achieved by sharing whole genome 

sequence data and advancing science. Because preventing all whole genome 

sequence data sharing would stifle potentially life-saving and life-enhancing 

medical progress, we must focus on how best to protect confidentiality of 

data, ensure security of information from unauthorized access and uses, 

preserve decisional autonomy as to possible uses, and guarantee the freedom 

of individuals from unwanted and unwarranted intrusion.

“[H]arm is not the act...of 

distributing data. Harm comes 

from actions that are taken 

once the data have been 

distributed.”

John Wilbanks, Founder, Consent to 

Research; Senior Fellow, Kauffman 

Foundation; Research Fellow, Lybba. 

(2012). Privacy II – Control, Access 

and Human Genome Sequence Data. 

Presentation to PCSBI, February 2, 

2012. Retrieved from http://bioethics.

gov/cms/node/659.
PRIVACY and PROGRESS in Whole Genome Sequencing

26

Policy and Governance

“If you sequence people’s exomes you’re going to find stuff,” said Gholson Lyon, 

a physician and researcher previously at the University of Utah, now at Cold 

Spring Harbor Laboratory.

As part of his research, Dr. Lyon worked with a family in Ogden, Utah. Over 

two generations, four boys had died from an unknown disease with a distinct 

combination of symptoms—an aged appearance, facial abnormalities, and developmental delay. Dr. Lyon sought to identify the genetic cause of this disease, and 

collected blood samples from 12 family members who had signed consent forms. 

The family members understood these forms to mean that they would have access 

to their results.

Dr. Lyon conducted exon capture and sequencing of the X chromosome—a 

process that analyzes specific regions of the X chromosome and is a less expensive 

alternative to whole genome sequencing—to analyze the blood samples. Dr. 

Lyon and his colleagues identified a genetic mutation, and named the disease 

Ogden Syndrome after the family’s hometown.

After Dr. Lyon and his team identified the genetic basis of Ogden Syndrome, 

one of the family members contacted him. This young mother of one daughter 

had submitted a blood sample for Dr. Lyon’s research. She had not been pregnant at the time, but was now four months pregnant with her second child. 

She knew that she was carrying a boy and wanted to know if she was a carrier 

of the mutation. She wanted to be able to mentally and emotionally prepare 

herself and her family.

By reexamining his research data, Dr. Lyon was able to see that the expectant 

mother was a carrier of Ogden Syndrome. This meant that her son had a 50 

percent chance of being born with the disease. Dr. Lyon could not, however, 

legally share this important information with the family because he had conducted 

the original sequencing in a research laboratory that had not satisfied federally 

mandated standards designed to ensure the accuracy of clinical genetic results.

Instead, Dr. Lyon worked to have the mutation validated at a laboratory that 

satisfied those federal standards; this involved overcoming substantial bureaucratic hurdles and other obstacles that held up the process. During this time, 
INTRODUCTION

27

the baby boy was born and died of Ogden Syndrome at four months of age. 

While knowing the results would not have changed the outcome, Dr. Lyon feels 

he should have been able to do more for the family.

Dr. Lyon has become an outspoken advocate for conducting whole genome 

sequencing in laboratories that satisfy the federal standards so that researchers 

can return results to participants, if appropriate. Dr. Lyon wants clear guidance for laboratories conducting genetic research and clear language in consent 

forms that clarifies the results that participants should expect to have returned 

from the researchers.

Realizing the promise of whole genome sequencing requires widespread 

public participation and individual willingness to share genomic data and 

relevant medical information. This requires public trust that any whole 

genome sequence data shared by individuals with researchers and clinicians 

will be adequately protected. Individuals must trust that their whole genome 

sequence data will not be either intentionally or inadvertently disclosed or 

misused. Current U.S. governance and oversight of genetic and genomic 

data, however, do not fully protect individuals from the risks associated with 

sharing their whole genome sequence data and information. 

The Genetic Information Nondiscrimination Act of 2008 (GINA) is the 

leading federal protection of genetic information, but it offers only prohibition of genetic discrimination in health insurance and employment. GINA 

does not regulate access, security, and disclosure of genetic or whole genome 

sequence information across all potential users, nor does it protect against 

discrimination in other contexts. U.S. state laws on genetic information 

vary greatly in their protections of individuals, and they also fail to provide 

uniform privacy protections. In an era in which whole genome sequence data 

are increasingly stored and shared using biorepositories and databases, there 

is little to no systematic oversight of these systems. 

Ethical Principles

Laws and regulations cannot do all of the work necessary to provide sufficient 

privacy protections for whole genome sequence data. Individuals who obtain 
PRIVACY and PROGRESS in Whole Genome Sequencing

28

their whole genome sequence data also have a responsibility to thoughtfully 

consider to what extent they ought to act to protect their own privacy beyond 

current legal protection when considering whether to share their data and 

information publicly. 

In its previous reports, the Commission established an ethical framework for 

considering the implications of scientific advances, including emerging technologies, that can be applied in similar situations. That framework outlines principles 

developed to apply particularly to emerging biotechnologies that do not directly 

involve human therapy or human experimentation. These guiding principles are 

1) public beneficence, 2) responsible stewardship, 3) intellectual freedom and 

responsibility, 4) democratic deliberation, and 5) justice and fairness. 

As biomedical science has evolved over time, the lines between clinical care, 

human research, and research not involving human participants have become 

blurred. The principles developed by this Commission, which flow from the 

concept of respect for persons, are described in detail in New Directions: The 

Ethics of Synthetic Biology and Emerging Technologies,and also apply when 

considering the ethics of whole genome sequencing.20 As applied to the 

science of whole genome sequencing, these principles, along with the principle 

of respect for persons, guide us to focus on pursuing public benefit while 

minimizing both personal and public risk. 

Respect for Persons

Respect for persons provides a strong, enduring, and widely accepted 

foundation for this report’s recommendations for protecting individual 

privacy in the pursuit of public benefit. As set forth in the Belmont Report, 

respect for persons requires one to give great “weight to autonomous persons’ 

considered opinions and choices while refraining from obstructing their 

actions unless they are clearly detrimental to others.”21 The Belmont Report

recognizes that not all persons can act as autonomous agents, and makes clear 

that there are special responsibilities to those who cannot.

Public Beneficence

Public beneficence asks us to pursue and secure public benefits and minimize 

personal and public harm. It encompasses society’s duty to promote 

activities that have great potential to improve the public’s well-being.22
INTRODUCTION

29

Public beneficence also supports scientific enterprises that benefit society by 

increasing economic opportunities. 

Responsible Stewardship

Responsible stewardship calls upon governments and societies to proceed 

prudently in promoting scientific advancement by taking into account the 

interests and needs of those who are not in a position to represent themselves 

such as children, the mentally ill, future generations, or individuals that may 

be unaware of risks. Responsible stewardship expresses a shared obligation 

to act in ways that demonstrate respect for such individuals. Emerging 

technologies present particularly profound challenges for responsible 

stewardship because our understanding of their potential benefits and risks 

is incomplete and uncertain.23 This makes it all the more important that we 

take great care not to make choices that have a substantial chance of causing 

irreversible harm to current or future generations.

Intellectual Freedom and Responsibility

Intellectual freedom grants scientists, acting responsibly, the right to use 

their creative abilities to advance science and the public good. Sustained and 

dedicated creative intellectual exploration produces much of our scientific and 

technological progress. Intellectual responsibility, the complementary part of 

this principle, calls upon scientists to adhere to the ideals of research; to avoid 

harm to others; and to abide by all applicable policies, rules, and regulations. 

Institutions, policies, and practices of a free society—along with the many 

citizens who support them—collectively provide the means for scientists to do 

their work, and the culture that recognizes and upholds intellectual freedom. 

As a result, scientists bear profound collective responsibility to society.24

The Commission endorses the principle of regulatory parsimony, which 

encourages fostering an achievable balance of intellectual freedom and 

responsibility. Regulatory parsimony calls for “only as much oversight 

as is truly necessary to ensure justice, fairness, security, and safety while 

pursing the public good.”25 In this spirit, policy makers are obligated to 

avoid restrictive rules that offer few benefits and hinder progress in science, 

medicine, and health care.26
PRIVACY and PROGRESS in Whole Genome Sequencing

30

Democratic Deliberation

Democratic deliberation is an approach to collaborative decision making that 

embraces respectful debate of opposing views and active participation by 

citizens. Democratic deliberation warrants engaging the public and fostering 

dialogue among the scientific community, policy makers, and persons 

concerned with the issues raised by scientific progress.27 The principle of 

democratic deliberation acknowledges that while decisions must eventually 

be reached, those decisions need not (and often should not) be unalterable, 

particularly when subsequent developments warrant additional examination. 

It is in the spirit of democratic deliberation that the Commission was created, 

has undertaken its work in publicly open meetings, and offered all of its 

reports to the President and members of the public.

Justice and Fairness

The principle of justice and fairness relates to the distribution of benefits and 

burdens across society. A commitment to justice and fairness is a commitment to ensuring that the unavoidable burdens of technological advances do 

not fall disproportionately on any particular individual or group, and that 

the benefits are widely and equitably distributed.28 The principle of justice 

and fairness counsels that the numerous scientific advances stemming from 

investments in science and medicine should be made accessible to the broadest 

possible number of persons, consistent with the ability to advance science and 

medicine for the true benefit of the public. 

The Commission’s Process

In concert with the principle of democratic deliberation, the Commission 

invited experts from the public and private sectors to inform their deliberations. Over the course of four public meetings, speakers addressed issues of 

privacy, consent, data security, access to whole genome sequence data, views 

of the patient advocacy community, and relevant philosophical topics (for a 

complete list of Commission speakers, see Appendix III: Guest Presenters to 

the Commission Regarding Privacy and Whole Genome Sequencing). The 

Commission also posed a data call to the 18 Common Rule departments 

and agencies, asking them to identify relevant statutes, agency regulations, 

guidance documents, and policies that govern privacy and access to genetic 

information generally and whole genome sequence data specifically.29 Finally, 
INTRODUCTION

31

a Request for Information was published in the Federal Register that elicited 

many thoughtful comments from individuals and professional societies.30

The Commission identified the field of whole genome sequencing as an 

important topic for consideration because this rapidly advancing technology 

raises many ethical issues that have not been fully addressed. After careful 

consideration of where it could make the greatest contribution at the present 

time, the Commission chose to focus on privacy rather than address ethical 

issues that are currently under consideration or have been addressed by other 

high-level groups or federal agencies, including commercial genetic testing and 

other important and controversial topics relevant to whole genome sequencing.31

In focusing on the potential risks to individuals’ privacy, the Commission 

also recognizes the anticipated societal benefit of the scientific and medical 

applications of advances in whole genome sequencing. Reconciling these 

goals means addressing the competing concerns of ensuring confidentiality 

of whole genome sequence data, granting access to and use of these data, and 

empowering participants who want to share their data without weakening 

privacy protections for others. The Commission reviewed rules and regulations already in place that protect privacy and prevent discrimination based 

on genetic information (currently there are no state or federal laws explicitly 

addressing whole genome sequence data), and heard testimony about the technological security systems used to protect whole genome sequence data. The 

Commission heard from experts about the ways whole genome sequencing is 

being, and will continue to be, integrated into clinical care. In addition, the 

Commission heard from the patient advocacy communities who expressed 

their wishes for more participatory models of research. 

About This Report

With its guiding principles in mind, the Commission sought to reconcile 

the anticipated societal benefit of the scientific and medical applications of 

advances in whole genome sequencing with the potential risks to individuals’ 

privacy. Recognizing that our ethical obligations reach beyond what is legally 

enforceable, the Commission examined both the relevant ethical principles 

and the relevant legal requirements to offer guidance as to what (ethically) 

ought to be done and what (legally) must be done.32 This is the foundation 

upon which the Commission builds its recommendations, which apply to 

both the public and private sectors.
PRIVACY and PROGRESS in Whole Genome Sequencing

32

Accordingly, Chapter 1 deploys and applies the relevant ethical principles. 

Chapter 2 summarizes the legal framework governing whole genome 

sequencing and the legal protections provided for persons who decide to share 

their whole genome sequence data. Finally, Chapter 3 offers recommendations 

and guidelines that are aimed at reconciling the existing tension between 

minimizing risks to individuals and maximizing the anticipated future 

societal benefits of whole genome sequencing. The Commission intends that 

any changes resulting from these recommendations be prospective and not 

apply retrospectively to specimens already collected or stored in the research or 

clinical setting.

WORK OF PREVIOUS COMMISSIONS

Previous bioethics commissions have issued reports on topics related to genetics. In 1982, 

the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical 

and Behavioral Research published a report, Splicing Life, which addressed the ethical and 

social implications of genetic engineering (http://bioethics.georgetown.edu/documents/

pcemr/splicinglife.pdf). In 1983, the same commission issued a report on the ethical, 

social, and legal implications of genetic screening, counseling, and education programs, 

titled Screening and Counseling for Genetic Conditions (http://bioethics.georgetown.edu/

pcbe/reports/past_commissions/geneticscreening.pdf). 

Genetic issues were not revisited until the National Bioethics Advisory Commission (NBAC) 

discussed the issue of human cloning in 1997, in its report Cloning Human Beings

(http://bioethics.georgetown.edu/nbac/pubs/cloning1/cloning.pdf). In 1999, NBAC issued 

Research Involving Human Biological Materials: Ethical Issues and Policy Guidance, which 

focused on research involving human biological materials (http://bioethics.georgetown.

edu/nbac/hbm.pdf). 

In 2002, the President’s Council on Bioethics took up the issue of human cloning in its 

report, Human Cloning and Human Dignity: An Ethical Inquiry (http://bioethics.georgetown.

edu/pcbe/reports/cloningreport/pcbe_cloning_report.pdf). The Council also published The 

Changing Moral Focus of Newborn Screening, which sought to establish ethical principles 

to guide newborn genetic screening (http://bioethics.georgetown.edu/pcbe/reports/

newborn_screening/Newborn Screening for the web.pdf).
33

CHAPTER 1

Ethical Principles
PRIVACY and PROGRESS in Whole Genome Sequencing

34

Whole genome sequencing offers the promise of tremendous public 

benefit, and is expected to change substantially our ability to assess 

risk, diagnose, and treat disease. Achieving this public benefit requires that 

researchers have access to large amounts of whole genome sequence data and 

associated medical information to assess correlations between underlying 

genomic variants and expressed disease. While many of the potential benefits 

arising from whole genome sequencing will accrue to the broader public, the 

risks associated with collecting and sharing whole genome sequence data will 

be borne disproportionately by the individuals whose data are being shared. 

“The state of technology is 

that data acquisition is now...

relatively inexpensive, and 

while the free access to 

genetic data has many positive 

benefits, we need to represent, 

of course, the tension of that 

with all of the other personal 

privacy issues...”

Richard Gibbs, Wofford Cain Professor, 

Department of Molecular and Human 

Genetics; Director, Human Genome 

Sequencing Center, Baylor College of 

Medicine. (2012). Ethics and Practice 

of Whole Genome Sequencing in the 

Clinic. Presentation to PCSBI, February 

2, 2012. Retrieved from http://bioethics.

gov/cms/node/658.

Because whole genome sequencing begins 

with obtaining a sample from an individual, 

to reconcile anticipated public benefits with 

potential individual harms the Commission 

begins with the principle of respect for 

persons. Respect for persons is among 

the most enduring and widely accepted 

foundations for protecting individual 

privacy in the pursuit of public benefit, and 

it is well formulated in the Belmont Report,

a declaration of ethical principles regarding 

research involving human participants.33

Since biomedical science has evolved 

significantly since the Belmont Report’s

publication in 1979 from clinically focused 

research to research for public benefit, the 

Commission also applies five additional ethical principles which flow from 

the principle of respect for persons—as outlined in New Directions: The 

Ethics of Synthetic Biology and Emerging Technologies—to the field of whole 

genome sequencing.34 These five principles—public beneficence, responsible 

stewardship, intellectual freedom and responsibility, democratic deliberation, 

and justice and fairness—apply well not only to emerging biotechnologies, but 

also to scientific advancement and innovation generally. The Commission’s 

five principles are thus a useful supplement to the Belmont principles for the 

purpose of assessing the ethics of whole genome sequencing.
35

ETHICAL PRINCIPLES I

In the case of whole genome sequencing, as is true for many emerging medical 

technologies, there are tensions between some of these principles. Two of the 

principles—public beneficence and intellectual freedom and responsibility—

support the continued pursuit of whole genome sequencing research because 

of the promise of intellectual gains and substantial public benefit. Simultaneously, other principles—respect for persons, responsible stewardship, 

and justice and fairness—counsel the adoption of protections to minimize 

the privacy risks that could befall individuals. Drawing upon the process of 

democratic deliberation, the Commission sought to reconcile the potentially 

conflicting practical implications of these principles. It did so by taking into 

account various paths to the anticipated promise of this rapidly advancing 

technology, while respecting the ethical concerns of the increasing numbers 

of individuals facing the prospect of whole genome sequencing: concerns, 

for example, about confidentiality, information security, decisional autonomy, 

and freedom from unwanted intrusion into personal lives.

The Public Benefit of Whole Genome Sequencing

Scientists predict that whole genome sequencing research will foster better 

understanding of the genetic factors that contribute to human health and 

diseases including cancer, heart disease, diabetes, and neuropsychiatric 

conditions, as well as many rare diseases. Further, whole genome sequencing 

is expected to usher in an era of personalized medicine, providing information 

that might allow clinicians to tailor treatments or manage the health of 

individuals based on their genomic profile.

The Commission’s recommendations regarding the continued pursuit of whole 

genome sequencing to advance medical science are based primarily on the 

principles of public beneficence and intellectual freedom and responsibility. 

Public beneficence gives rise to a societal and governmental duty to promote 

individual activities and institutional practices, such as scientific and biomedical 

research, that have great potential to improve the public’s wellbeing.35

Public beneficence also supports scientific enterprises that advance the common 

good by increasing economic opportunities, a criterion that whole genome 

sequencing satisfies.36 The U.S. government invested billions of dollars in the 

Human Genome Project—a collaborative research project with the ambitious 

goal of sequencing the entire human genome. This investment has since generated 
PRIVACY and PROGRESS in Whole Genome Sequencing

36

$244 billion in personal income and $796 billion in overall economic impact.37 In 

2010 alone, the human genome sequencing projects and associated research and 

industry activity directly and indirectly generated over 300,000 jobs and brought 

in tax revenue of $3.7 billion.While not unique to whole genome sequencing, 

increased economic productivity is often a positive by-product, consistent with 

public beneficence, of scientific and medical progress.

Intellectual freedom grants scientists—acting responsibly—the right to use 

their creative abilities to advance science. Creative, sustained, and dedicated 

intellectual exploration is an essential aspect of scientific, technological, 

and clinical progress. At the same time, it serves to expand our general 

understanding of the world. 

However, both public beneficence and intellectual responsibility, the 

complement to intellectual freedom, caution against pressing forward with 

whole genome sequencing without regard to negative consequences. The 

principle of public beneficence requires both that public benefits be secured 

and that public harms be minimized. Likewise, intellectual responsibility calls 

upon all researchers and clinicians—including their staff and the institutions 

that support them—to adhere to the ideals of research, one component of 

which is avoidance of harm to others.38 Pursuing whole genome sequencing 

without considering potential harms would violate the clear and compelling 

mandates of public beneficence and intellectual responsibility. 

Privacy Concerns Raised by Whole Genome Sequencing

Respect for persons includes respect for the dignity and privacy of 

individuals. As a result, respect for privacy assumes special salience in 

discussions about ethics and genetics. Because whole genome sequence 

data provide important insights into the medical and related life prospects 

of individuals as well as their relatives (who most often did not consent to 

the sequencing procedure), whole genome sequencing poses real privacy 

concerns. These concerns are compounded by the fact that whole genome 

sequence data gathered now might reveal important information, entirely 

unanticipated and unplanned for, as science progresses. The potential power 

of the information contained in whole genome sequencing substantially 

raises the privacy stakes of medical information.
37

ETHICAL PRINCIPLES I

Privacy and the Law

Concerns about privacy are not new; worries 

about the proper boundaries between self, 

others, and government extend as far back 

in recorded human history as ancient Greece 

and Rome.39 The central role of privacy in 

U.S. culture and ethics is reflected in the 

tone of its laws. The word “privacy” does not 

appear in the U.S. Constitution. However, as 

American courts and scholars have observed, 

the Bill of Rights implicitly recognizes 

the value of privacy and rights of privacy 

through provisions guaranteeing: 1) freedom 

of speech, freedom of religious, political and 

personal association, and related forms of anonymity (First Amendment); 2) 

freedom from government appropriation of one’s home (Third Amendment); 

3) freedom from unreasonable search and seizure of one’s body and property 

(Fourth Amendment); 4) freedom from compulsory self-incrimination (Fifth 

Amendment); 5) freedom from cruel and unusual punishment, including 

unnecessarily extreme deprivations of privacy (Eight Amendment); and 6) 

other personal freedoms (Ninth Amendment). In addition to the Bill of Rights, 

the Supreme Court and state courts have marshaled the due process clause 

and language of “liberty” of the Fourteenth 

Amendment to strike down laws interfering 

with autonomous medical, marital, sexual, 

and family decision making. 

“Public trust is fundamental to 

the ongoing support of these 

activities and to participant 

willingness to actually 

contribute to the research. 

And without the participant 

willingness to contribute to 

the research, we will not move 

forward at all.”

Laura Lyman Rodriguez, Director of 

Office of Policy, Communications and 

Education, National Human Genome 

Research Institute. (2012). Presentation 

to PCSBI, August 1. Retrieved from 

http://bioethics.gov/cms/node/749.

“With advancing technologies 

it’s increasingly hard to keep 

secret our genetic information. 

There’s more data-sharing... 

but that doesn’t mean that we 

don’t have privacy interests 

here, it just means that we may 

need more explicit protections 

of those interests.”

Sonia Suter, Law Professor at George 

Washington University. (2012). 

Presentation to PCSBI, August 1. 

Retrieved from http://bioethics.gov/cms/

node/748.

A number of U.S. states have explicit privacy 

protection provisions in their constitutions 

that apply to privacy violations by state and, 

in some cases, private entities. The common 

law of some states includes a breach of confidentiality tort. Most states recognize one or 

more right to privacy torts, first proposed in 

the 1890 article “The Right to Privacy” by 

Samuel Warren and Louis Brandeis. This 
PRIVACY and PROGRESS in Whole Genome Sequencing

38

seminal article persuasively argued that courts should recognize a “right to be 

let alone” against unwanted intrusion and publicity.40 Today personal injury 

suits can be brought alleging intrusion upon seclusion; publication of private 

facts; publication placing one in a false light; and appropriation of name, likeness, or identity. 

The United States takes a sectoral approach to regulating privacy, which 

means that the United States specifically regulates privacy concerns in 

particular settings as they arise. In the past four decades, in response to 

pervasive new technologies and related business practices, state and federal 

authorities have enacted many statutes and agency rules protecting the privacy 

of data related to health, education, finances, taxes, the federal census, video 

rentals, lie-detection, motor vehicle records, library records, and electronic 

and telephonic communications. This sectoral approach means that a number 

of areas that have no specific laws currently do not receive even baseline 

privacy protections. By contrast, Europe regulates privacy comprehensively, 

providing privacy protections that are consistent across different types of data 

or information.41

The Meanings of Privacy

Privacy and associated terms, including confidentiality, anonymity, choice, and 

data protection, refer to related concepts. Discussions about ethics and whole 

genome sequencing sometimes inappropriately use these terms interchangeably. 

To enable clear ethical analysis in this report, we provide basic definitions of 

the family of privacy terms applicable to our work and map their relationships. 

Scholars differ in their precise definitions of the terms we use, but the language 

we present in this report is consistent with a general consensus view. The 

following definitions are meant to show how the Commission uses these terms 

and to help guide future discussions regarding ethics and genetics. They should 

not be taken as formal arguments for precise definitions.

Restricted Access

The term privacy is used here (and in many ethical and legal contexts) broadly 

to mean states of affairs by virtue of which the accessibility of persons, 

personal information, or personal property is limited or restricted. What is 

valued as “personal,” “sensitive,” or “intimate” may be restricted by virtue of, 
39

ETHICAL PRINCIPLES I

for example, spatial distances, physical barriers, electronic passwords, social 

norms, or customs. In the United States and other developed societies, health 

information is widely considered personal, sensitive, or intimate, and genetic 

information especially so. 

The term informational privacy refers generically to restricted access to information or data. “Confidentiality,” “anonymity,” and “data protection” are 

specific ways to protect informational privacy in the broad sense, with special 

relevance in clinical and health research settings. 

Confidentiality is used to denote restricting access to information or data to 

groups of specifically authorized recipients. In the medical context, health 

information is often limited by custom to close family and friends and by law 

to health practitioners, insurers, and professional researchers. Patients and 

research participants may even choose to keep health conditions secret from 

intimate kin by deliberately concealing the information. Confidentiality is 

closely connected with trusting relationships. One can share private information with another person on the understanding that he or she can be trusted 

to keep that information secret (i.e., will not divulge it to others). Patients 

entrust clinicians with medical information provided that they have a “need 

to know,” and understanding that the clinician will keep the information 

confidential. In the context of whole genome sequencing, data must be kept 

confidential; databases must be secure and information must not be divulged 

to unauthorized users.

Anonymity is used to denote restrictions on access to personally identifiable 

information pertaining to individuals or groups, achieved through 

intentionally disguising or removing identifiers. A health record can be made 

more anonymous, for example, by removing a patient’s name, address, or 

social security number. 

Data protection refers to measures designed to thwart deliberate or accidental 

disclosures of confidential or anonymous information. Health data that are 

electronically stored or transmitted can be protected with computer passwords 

and encryption. Health care providers employ technology to protect data, but 

ethical norms and business practices can also protect data from unauthorized 

access, use, and disclosure. 
PRIVACY and PROGRESS in Whole Genome Sequencing

40

Autonomy

The term “privacy” has a second distinct use in ethics and law. Privacy is 

a rough synonym of autonomy with respect to self-regarding conduct and 

intimate relationships. Here, privacy denotes the absence of substantial 

government or other outside interference with individuals’ decisions and 

choices. In traditional bioethics, the “privacy” at issue in euthanasia, birth 

control, and consent to research is this second understanding of privacy, 

which involves the ability to make autonomous decisions.

We note that there are other uses of “privacy,” some health-related, that do not 

play a major role in this report. Seeking greater precision and focus, privacy 

scholars and the courts commonly qualify the term “privacy” using descriptive adjectives. Indeed, they commonly speak of informational privacy in 

relationship to the collection, use, and sharing of information or data. They 

speak of physical privacy in relation to observing, concealing, and touching the 

human body, such as entering hospital rooms or respecting patient modesty. 

They refer to spatial, geographical, and locational privacy in relation to GPS 

and beeper technologies. They speak of associational privacy in relation to 

affiliation with like-minded people. They recognize decisional privacy in relation to independent decision-making. Less commonly, privacy scholars and 

the courts distinguish proprietary privacy in relation to repositories of personal 

identity and genetic ownership claims. And finally, they identify intellectual 

privacy in relation to interests in freedom of thought, conscience, and the 

right to read and access knowledge. 

There is ample debate and disagreement about the value of particular 

privacies and the basis for laws and policies promoting or regulating each 

type of privacy. In this report, the Commission focuses on informational and 

decisional privacy as they pertain to whole genome sequencing. We use the 

term “privacy” in reference to both limited access to genetic information and 

data, and to the absence of interference with decisions about the collection, 

use, and sharing of genetic information. A person whose whole genome 

is sequenced might have both decisional privacy concerns (about who is 

permitted to decide whether whole genome sequencing data are shared) and 

informational privacy concerns about whether such data will be shared in 

confidence, securely, or in de-identified form. 
41

ETHICAL PRINCIPLES I

Although the precise contours and content of privacy have changed substantially 

over time, with shifts in culture as well as technology, intense and widespread 

human interest in the protection of privacy is abiding, not only in the United 

States, but also around the world. Privacy protections promote a set of highly 

prized values. Although modern technology can facilitate unobserved and 

uninvited intrusions into homes, for example, what individuals choose to 

do in such a domain is generally valued as a matter of “privacy” and deemed 

legitimately “private,” unless that behavior violates particularly weighty ethical 

or legal limits. That is, there are constraints on what behavior can be considered 

legitimately private. In the inclusive understanding of what falls under the privacy 

umbrella we adopt here, what individuals choose to do at home is presumptively 

confidential, anonymous, intimate, secure, free from unwanted intrusion, and/or 

subject to decisional autonomy.42 Concern for privacy values (while additionally a 

means of enabling privacy at home and other vital privacies) also incorporates the 

increasingly elusive ideal of control over the flow of information regarding oneself, 

again subject to broad ethical and legal limits.43

The Value of Medical Privacy

The Commission agrees that respect for patient and participant privacy can 

greatly benefit individuals and the general public. Under the principle of 

respect for persons, and for the sake of public beneficence and justice and 

fairness, those who collect, use, or share health data should employ practices 

that include confidentiality, anonymity, and informed consent to shelter clinical patients and research participants from the unwanted glare and control 

of others. It is important to ensure that respect for patient and participant 

privacy not be compromised, not only in clinical care and research, but also 

in the publication or archiving of medical lectures, scholarly articles, and 

personal papers. Medical privacy remains an important ethical principle, 

despite the recognition that many people voluntarily share their health information or data, including genetic information and data, and despite the 

practical reality that modern institutional practices presuppose that a great 

deal of sensitive health information can and will be lawfully shared among 

providers, insurers, researchers, and the government. 

Medical privacy has many varieties of recognized public value. First, medical 

privacy encourages individuals to seek medical care. Individuals will be 
PRIVACY and PROGRESS in Whole Genome Sequencing

42

more inclined to pursue medical attention if they believe they can do so on 

a confidential basis. Practicing confidentiality assures that, in most cases, a 

patient can choose when to disclose an illness, condition, or genetic status. 

Confidentiality and anonymity enable individuals to exercise constitutionally 

protected liberties of autonomous medical decision-making by safeguarding 

information they do not choose to share because it is embarrassing or would 

expose them to discrimination or disapprobation. 

Second, medical privacy encourages frank 

disclosures in clinical and research settings. 

Individuals seeking care can be open and 

honest if they can trust that facts reported 

to or uncovered by clinicians or researchers 

will not be broadcast to the world at large. 

People are often embarrassed by symptoms, 

histories, and prospects of illness. Individuals 

concerned about discrimination, shame, or 

stigma have an interest in controlling the flow of information about their 

health. Some patients and participants believe they own personal information 

about themselves, especially genetic information, and should be able to 

control its release. 

Third, if individuals believe they can decide whether to share data, information, 

and biospecimens under conditions of confidentiality, anonymity, and 

informed consent, they might be more likely to participate in research. In the 

context of health research, ethics committees and institutional review boards 

properly require researchers to protect the privacy of research participants and 

their medical records. Obligations of privacy may require the use of coded 

information rather than names or “de-identification” procedures such as data 

aggregation. Some have argued that researchers must publish genomic data 

in ways that obscure the identities of whole families. Even statistical use of 

individuals’ health data has raised privacy concerns, as some have argued that 

for cultural or social reasons individuals might have an ethical interest in the 

uses of data sets without personal identifiers that include data about them.44

Fourth, alleviating the concerns about exposure and discrimination that keep 

patients away from clinicians enhances confidentiality, which can further the 

“It just seemed safer to keep it 

to myself...I didn’t know what 

somebody would do with that 

information in the future...and I 

was very concerned about it.” 

Victoria Grove, introductory vignette, 

referring to her decision to keep secret 

her positive genetic test for alpha-1 

antitrypsin deficiency.
43

ETHICAL PRINCIPLES I

goals of health care cost savings by ensuring that patients seek early medical 

care rather than waiting until their conditions worsen and require more 

dramatic medical intervention.45

The Commission recognizes that privacy, like most values, has ethical as well 

as practical limits. It is not an absolute public good. Certain diseases, conditions, and prescriptions must be reported to government to protect public health 

and safety. Health care providers and responsible adults are ethically obligated 

to report evidence of child neglect and abuse uncovered in treatment. Mental 

health providers have an ethical duty to warn police or potential victims of 

the credibly violent intentions of patients with mental illness. Situations arise 

in which medical confidentiality cannot be preserved because the media has a 

right to publish information or legal authorities have the authority to subpoena 

information for use in legal proceedings and investigations. Members of the 

military and civil servants serving in war zones may be also required to undergo 

mandatory genetic biobanking or testing for varied purposes. 

Privacy in Whole Genome Sequencing

Currently, whole genome sequencing involves generating, storing, sharing, 

and analyzing large amounts of data. Although members of the public express 

general comfort with the idea of sharing genomic data in biorepositories, 

privacy ranks among participants’ highest concerns.46 Data also show that 

for many, privacy concerns are an important obstacle to participation in large 

cohort studies.47 Although 60 percent of people surveyed said they would 

participate in a study that involved storing data in biorepositories, 91 percent 

of those potential research participants would be concerned about privacy.48

Additional data indicate that although a large majority of survey participants 

trust clinicians and researchers, they are concerned that results of genetic 

tests could end up in the wrong hands and be used against them.49 Most 

of the people interviewed following enrollment in one sequencing study 

indicated that their primary concern was that they be informed if there was a 

possibility that their data would be shared with other researchers and that it 

was important they maintain some control over who could have access to their 

genomic data. The participants wanted insurance companies and employers to 

be excluded from access to these data, but were comfortable with data sharing 

within the research community.50
PRIVACY and PROGRESS in Whole Genome Sequencing

44

Informational and decisional privacy concerns about the unauthorized 

disclosure or misuse of whole genome sequence data are not only common 

and intensely important in the minds of potential research participants, 

they are also objectively linked to the potential for serious harms from such 

disclosure and misuse. Potential harms include the risk of lost opportunities 

in employment, long-term health care, disability and life insurance, loan 

approvals, education, sports eligibility, military accession, and adoption 

eligibility.51 In areas that are far less amenable to any legal protection 

or recourse, individuals could find themselves facing social stigma from 

disclosure of sensitive genomic information, and subsequent disruption 

of their home, family, and community life.52 Risks that are more internal 

to, and variable among, individuals include being subject to psychological 

harms upon learning information that can be difficult to bear, including that 

one has a predisposition to a disease such as cancer or Alzheimer’s disease. 

Because whole genome sequence information directly implicates relatives, 

psychological harms often are not limited to the person whose genome is 

voluntarily being sequenced and publicly disclosed. Even individuals who 

learn that they do not carry a harmful variant may experience “survivor’s 

guilt” if another family member is affected.53

To date, the number of documented cases of discrimination on the basis of 

genetic test results is small.54 This might be due to the relatively few conditions 

for which there are currently definitive genetic tests, coupled with the expense 

and difficulty of conducting these tests. As a result, genetic information is 

rarely available to third parties. Another reason for the small number of 

reported cases, now and potentially in the future, might be the difficulty of 

uncovering and documenting discriminatory use of data.55 It is also possible 

that such discrimination might not occur, either because there are other more 

definitive bases on which to make insurance or employment decisions, or 

because all individuals have some form of disease predispositions. Regardless, 

legitimate concerns remain about the potential for differential treatment of 

individuals based on their genomic information, even if legally prohibited 

discrimination rarely occurs. If individuals lack assurances against misuse of 

their genomic information, their privacy concerns might motivate them to 

not share their whole genome sequence data, which could harm the research 

enterprise that generates life-saving discoveries. 
45

ETHICAL PRINCIPLES I

Privacy and the Ethical Principles

A robust set of ethical principles—respect for persons, responsible stewardship, and justice and fairness—supports the adoption of norms to minimize 

the privacy risks that could befall individuals while enabling research and 

clinical care for public benefit to continue. Respect for persons requires one 

to give great “weight to autonomous persons’ considered opinions and choices 

while refraining from obstructing their actions unless they are clearly detrimental to others.”56 Exercising autonomy includes self-determination, which 

requires that persons be allowed to make “important decisions about one’s 

life for oneself and according to one’s own values or conception of a good 

life.”57 Respect for persons highlights an individual’s autonomy and recognizes 

that we should respect individuals’ ability to decide for themselves what they 

value, and how and when to act on those values. For example, an autonomous 

person should be able to decide whether to undergo a medical procedure based 

on personal considerations of risks, benefits, costs, and cultural and religious 

views. Forcing an individual to undergo a procedure, even for their medical 

benefit, would violate that person’s autonomy and would fail to demonstrate 

respect for the individual as a person. Respect for persons also encompasses 

respect for the individual’s dignity and privacy. Therefore, violation of an 

individual’s privacy, such as the misuse or unauthorized disclosure of whole 

genome sequencing data, demonstrates a violation of the principle of respect 

for persons. 

Governments and societies that exercise responsible stewardship accept a duty 

to proceed prudently in promoting scientific advancement and emerging technologies. They recognize a shared duty to act in ways that demonstrate concern 

for all those who might be affected, and especially for those who are not in a 

position to represent themselves (e.g., children, the disenfranchised, vulnerable 

populations, and future generations). Rapidly advancing technologies such as 

whole genome sequencing present profound challenges for responsible stewardship because our understanding of the potential benefits and risks is largely 

incomplete and uncertain.58 This makes it important that governments and 

societies take great care not to make decisions that have a substantial chance of 

causing irreversible harm to current or future generations, and especially those 

who have little or no say over such decisions. Responsible stewardship advises 

against decisions that are entirely precautionary (no action without complete 
PRIVACY and PROGRESS in Whole Genome Sequencing

46

certainty of security) or entirely proactionary (no limitations on science). 

Heeding the principle of responsible stewardship therefore neither thwarts the 

development of new scientific enterprises nor lets science advance unchecked on 

the fallible assumption that it is safe.

The principle of justice and fairness is, in important part, a commitment 

to ensuring that the unavoidable burdens of technological advances do not 

fall disproportionately on any individual or group, and that the benefits are 

widely distributed.59 The principle of justice and fairness encompasses the 

idea of fair distribution in that it demands society ensure that risks not be 

disproportionately borne by any particular group and strive for “the broadest 

distribution of beneficial technologies.”60 As such, the principle of justice and 

fairness entails protection for those who decide to share their whole genome 

sequence data to reduce the chances that they will be harmed by unauthorized 

disclosure or misuse.

These three principles, taken together, suggest that individuals are entitled 

to privacy protections that prevent undue and disproportionate burden. But 

these protections are not absolute. Prohibiting all gathering and sharing of 

whole genome sequence data would protect privacy absolutely, but still would 

fail to adequately respect persons. A total prohibition prevents individuals 

from choosing to participate in whole genome sequence research, even if they 

consider themselves adequately protected; it also fails to take into account 

individuals’ other interests, such as an interest in excellent medical care. 

Respect for persons demands respect both for individuals’ privacy and for 

their interest in benefitting themselves and others from medical advances. 

The Commission emphasizes that there is extremely good reason for individuals to choose to share information in a context where there is adequate 

protection for individual privacy: whole genome sequencing has the potential 

to be of substantial public benefit. The ability to share information is the sort 

of important decision that is central to autonomous action, which respect for 

persons commits us to recognize. 

Respect for persons supports giving persons the opportunity to share their 

whole genome sequence information for scientific advancement, subject to 

strong baseline privacy protections. At the same time, individuals have a 

responsibility to safeguard their privacy as well as that of others, by giving 
47

ETHICAL PRINCIPLES I

thoughtful consideration to how sharing their whole genome sequencing data 

in a public forum might expose them to unwanted incursions upon their 

privacy and that of their immediate relatives. To be indifferent to the implications of disclosure of sensitive data and information about one’s self is to act 

irresponsibly. That being said, it can be good and virtuous to share sensitive 

data about oneself in appropriate circumstances, for example, for the good 

of public health research or public education.

To determine what baseline privacy protections should be, we need to 

distinguish between access to, use of, and possession of whole genome 

sequence data. To possess whole genome sequence data is to have a copy of the 

data file and, therefore, to have access to it at any time. Having access to data 

implies the ability to manipulate and work with the data files. It is possible to 

access data that one does not possess; a researcher might be allowed to access 

data files in a secure database to address research questions without keeping a 

copy of the data. One can have access to data even if one does not (and either 

ethically or legally cannot) use it, as when whole genome sequence data are 

stored on a server available to download, but one does not download them. 

The use of data refers to seeking answers to questions by analyzing the data. A 

researcher could use data in a protected database without having either access 

to or possession of the data by submitting a query to the database manager 

and then receiving the results of the query from the database manager. In 

these ways, it is possible to allow researchers to work with whole genome 

sequencing data through access to or use of the data while maintaining the 

security of the data themselves and protecting the privacy of the individuals 

who contributed to the database. The confidentiality of information or data 

about persons can be maintained through a number of means designed to 

prevent unauthorized access to the data: these means are collectively called 

informational security or data security. Examples of data security mechanisms 

include legal limitations, locked drawers, and computer firewalls. 

Presentations to this Commission indicated that whole genome sequence data 

could be used without actually possessing it: that is, technologies already are 

being developed to allow researchers to have limited computational access to 

select whole genome sequence data sets without physically transferring possession of all data files in the set.61 The researcher would be able to use the data 

for analysis, but would not maintain possession of the data. This means that 
PRIVACY and PROGRESS in Whole Genome Sequencing

48

possession of genomic information is neither necessary nor sufficient for its 

use. As with control of information, the use of information (including misuse 

and unauthorized use) in some cases will be of greater ethical salience than 

either access or possession.

Reconciling Competing Ethical Claims

The principles of public beneficence and intellectual freedom and responsibility support continued pursuit of whole genome sequencing to advance 

scientific understanding and medical progress. But these principles have 

components that suggest such pursuits should not be unrestrained. The 

positive argument for restraint is founded upon the principles of respect for 

persons, responsible stewardship, and justice and fairness, which together 

require implementing privacy protections and minimizing the chance of harm 

to individuals. But these principles do not suggest that privacy protections 

should erect absolute barriers to voluntary data sharing. 

In moving forward with whole genome sequencing, respect for persons requires 

informing individuals about the foreseeable consequences of their decision 

to share their genomic data, including who has access to their whole genome 

sequence data and how these data might be used in the future. Respect for 

persons also counsels individuals who collect samples to determine patient 

and research participant preferences at the time samples are obtained so that 

they can choose whether to participate, or whether feasible limits on the use 

of their whole genome sequence data can be agreed upon. Providing individuals who are choosing whether to share whole genome sequence data with the 

information necessary to make a fully informed decision about the potential 

consequences—including who can access the data and how the data will be 

used—allows individuals to make an autonomous decision. The principle of 

respect for persons applies to all whole genome sequence data regardless of 

whether they were obtained in a research or a clinical context.

The Commission’s principle of regulatory parsimony calls for “only as 

much oversight as is truly necessary to ensure justice, fairness, security, and 

safety while pursing the public good.”62 Regulatory oversight is appropriate 

in certain contexts—for example, disallowing certain types of research or 

permitting other types of research only when certain conditions are met. 

But some aspects of research—including data security protections for whole 
49

ETHICAL PRINCIPLES I

genome sequence data—remain outside 

most regulatory frameworks. For otherwise 

unregulated aspects of research, informed 

consent is one mechanism by which individuals can protect their own privacy. By 

informing individuals about the potential 

risks and benefits of participation in whole 

genome sequencing, along with information 

about the security protections in place, individuals can autonomously choose whether to 

provide a biological sample for use in whole 

genome sequencing research. In this way, 

informed consent is one means of reconciling the public good that can come from 

whole genome sequencing with the potential 

harms to individual privacy.

The Commission is a lso mindf ul of 

democratic deliberation, an approach to 

collaborative decision-making that embraces 

respectful debate of opposing views and 

active participation by citizens. Democratic 

deliberation warrants engaging the public 

and fostering dialogue among the scientific 

community, policy makers, and those concerned with the issues raised by 

whole genome sequencing.63 In this spirit, the Commission sought input from 

a broad range of voices, including members of the patient advocacy community calling for more participatory models of research and from researchers 

who feared further administrative burden.

The principle of democratic deliberation acknowledges that while decisions 

(e.g., recommendations, policies, and guidance documents) must be reached 

in a timely manner, those decisions need not—and generally should not—be 

unalterable, particularly when relevant new information emerges. Modern 

societies change rapidly, especially in the domain of science and technology, 

and decisions in changing realms are best considered provisional rather 

than permanent. Researchers and clinicians must be particularly mindful 

NEWBORN SCREENING

In the case of Beleno v. Texas 

Department of State Health 

Services parents sued, claiming 

that the Texas Department 

of State Health Services 

collected and stored newborn 

blood samples, subsequently 

making them available for 

research purposes, without 

seeking parental consent. The 

parents argued that the lack of 

proper consent was a violation 

of privacy. The out-of-court 

settlement that was reached 

resulted in the destruction of 4 

million similar specimens that 

had been collected without 

parental consent.

Sources: Beleno v. Lakey, No. SA-09-

CA-188-FB (W.D. Tex. Sept. 17, 2009).; 

and Aaronson, B. (2010, December 8). 

Lawsuit alleges DSHS sold baby DNA 

samples. The Texas Tribune, TribBlog. 

Available at: http://www.texastribune.

org/texas-state-agencies/departmentof-state-health-services/lawsuitalleges-dshs-sold-baby-dna-samples/.
PRIVACY and PROGRESS in Whole Genome Sequencing

50

of the deliberative value of provisionality, of being tentative or temporary, 

as whole genome sequencing moves from the realm of research and enters 

the broader clinical context.64 The transition is already raising new challenges, and the policies that were once created with the assumption that the 

research realm is clearly and cleanly separated from clinical contexts may 

no longer be either sustainable or desirable due to the reciprocal relationship 

that has developed between them. Clinical samples, stripped of identifiers 

and transferred to genomic databanks and biorepositories for broader use by 

researchers, contribute to the common good by making possible research that 

could not be done without large numbers of samples from which to generate 

data. Subsequently, medical benefits developed as a result of such research will 

be available to the broader population including the persons from whom the 

deidentified clinical samples were taken.

Conclusion

The Belmont principles and the principles articulated by this Commission 

suggest ethically important and practically useful guidelines for whole 

genome sequencing. Chief among these is that the principle of respect for 

persons requires strong baseline protections for privacy and security of data, 

while public beneficence requires facilitating ample opportunities for data 

sharing and access to data by clinicians, researchers, and other authorized 

users. Respect for persons further requires that any collection and sharing of 

an individual’s data be based on a robust process of informed consent. The 

principle of responsible stewardship calls for oversight and management of 

whole genome sequence information by funders, managers, professional 

organizations, and others. The principle of intellectual freedom and 

responsibility provides further support for pursuing whole genome sequencing 

and seeking models for broad data sharing by promoting regulatory parsimony. 

Democratic deliberation is the foundation of the process that gave rise to this 

document, and others like it, and will continue to be the foundation moving 

forward. Democratic deliberation urges all parties to consider changes to 

policies and practices in light of the evolving science and its implications for 

enduring ethical values. Finally, the principle of justice and fairness requires 

that we seek to channel the benefits of whole genome sequencing to all who 

may potentially benefit, and ensure that the risks are not disproportionately 

borne by any particularly vulnerable or marginalized group. 
51

CHAPTER 2

Policy and Governance
PRIVACY and PROGRESS in Whole Genome Sequencing

52

This chapter describes current policy and legal protections of genetic 

information and the ways in which genome sequence data are shared in 

the United States. There is no comprehensive federal law that protects genetic 

privacy. The Genetic Information Nondiscrimination Act (GINA) prohibits 

discrimination by employers and health insurers based on the results of genetic 

tests, but does not provide privacy protections. In addition, GINA does not 

address the complexity of large-scale genomic data. Many states have laws 

governing genetic information and some of these laws provide privacy protections, 

but the laws vary greatly from state to state. As a result, our laws lack the 

specificity required to encourage participation and secure public benefits from 

this emerging science, while still ensuring the protection of privacy.

To gain the most benefit from recent innovations in whole genome 

sequencing, researchers need as much data as possible, derived from broad 

public participation in whole genome sequencing research. Widespread 

participation will be achieved only if participants trust the research enterprise 

and are comfortable that their privacy interests are protected. Currently, the 

patchwork of state and federal laws does not provide uniform protection of 

genomic data privacy. Protecting privacy interests of individuals requires a 

spectrum of conditions to be in place, including ethical and trustworthy 

behavior by researchers and clinicians, sufficient security of information 

technology, and policies and laws that hold violators accountable. 

Privacy Concerns About Genetic and Whole Genome Sequence Data

For as long as the nature of genetics and heritability has been understood, there 

have been concerns about misuse. During most of the 20th century, erroneous 

notions about genetics led to eugenic policies based on the idea that genetic 

“inferiority” should be eliminated. Since the launch of the Human Genome 

Project in 1990, scientific knowledge about genetic information has grown 

exponentially, especially in identifying genetic variations that cause disease. 

This new information has resulted in a heightened concern about privacy, and 

the implications of others knowing an individual’s genetic information.

To draw meaningful conclusions and answer broad research questions, 

researchers aggregate and share whole genome sequence data from large 

numbers of individuals. To garner widespread participation in research and 

maintain trust in the enterprise, users and holders of whole genome sequence 
53

POLICY AND GOVERNANCE II

data must guide themselves according to at least three facets of privacy and 

confidentiality. The first facet, the individual, requires fostering ethical 

behavioral norms for researchers and clinicians. Participants, patients, and 

consumers must be assured that those who have contact with identifiable 

data intend to use them in an ethical manner—namely, only for those uses 

for which the participant, patient, or consumer has given consent. Many 

individuals trust researchers and medical professionals to consider their needs 

along with the greater good, despite substantial privacy concerns. A 2010 

study of research participants’ views on genomic research indicated that, while 

individuals expressed concerns about privacy and data security, they also 

understood the value of sharing whole genome sequence information. Overall, 

concerns about privacy did not outweigh their sense of the importance of 

sharing genomic data in the interest of a larger social good.65

The second facet of privacy protection is information technology. Participants 

and patients must be assured that their data are secure. A 2006 survey queried 

the public’s wariness about health information technology systems and found 

that 80 percent of survey participants were concerned about identity theft 

and fraud, 77 percent about health information being used for marketing 

purposes, and 55 percent about health information being misused by insurers 

or employers.66 These concerns highlight the need for secure information 

technology systems tailored to sensitive biomedical information, including 

whole genome sequence data and information. These concerns build upon the 

need for fundamental trust in the ethical behavior of data users and in the 

security of the systems that store these data—participants and patients should 

be assured that they can rely on their consent to allow identified data to be 

used for certain purposes and not for others. 

The third facet of privacy protection is policy. Policy-level protection requires 

that systems be in place to provide clear institution-level expectations of 

training and preparation to handle whole genome sequencing data and 

information, to ensure an atmosphere of trust and an expectation of security, 

and to provide recourse should individual and information technology privacy 

protections fail.

While rapid advancement of genomic science in the past decade has led to 

vast potential for valuable research and societal benefits through medical 
PRIVACY and PROGRESS in Whole Genome Sequencing

54

advances, privacy and confidentiality concerns persist. Without reliable 

protection from potential harms, perceived and real fears of privacy violation 

and discrimination could cause individuals to balk at sharing their whole 

genome sequence data, thus stifling scientific progress.

Current Sharing of Specimens and Whole Genome Sequence Data

The past few years have seen the rise of sharing whole genome sequence 

data through biorepositories (facilities that store large numbers of physical 

biospecimens containing genetic material and associated data and 

information that researchers can access) and databases. Biorepositories 

are categorized generally into four groups: disease-specific (e.g., cancer 

databases); longitudinal population studies (e.g., the United Kingdom 

biorepository); isolated populations (e.g., the Faroe Islands); or twin registries, 

used to distinguish between genetic and non-genetic bases for disease.67

Biorepositories often have different missions and different governance 

structures and must reconcile the rights of individuals with potential societal 

benefit accordingly. Other organizations, such as academic institutions, 

government agencies, and private not-for-profit entities, store data in 

databases—repositories that do not contain physical biospecimens, but rather 

electronic versions of genome sequence files. For many purposes, it is no 

longer necessary to maintain actual stored DNA from an individual once 

the genome sequence data have been collected, because it is easier to share 

electronic data files than physical specimens. 

Despite these differences, biorepositories and their associated databases share 

some commonalities. The collection of specimens and data and subsequent 

storage in biorepositories and databases give rise to risks that might include 

minor harm to the donor in obtaining the biospecimen (such as bruising upon 

blood withdrawal); nonphysical harms such as discrimination, stigmatization, 

and untoward psychological impact upon discovering unwelcome information; group harms, like those incurred by the Havasupai; and ethical harms 

that arise when individuals are not treated with respect and dignity.68 Various 

laws and regulations govern the ways that these data currently are collected, 

shared, and used in the United States and around the world. 
55

POLICY AND GOVERNANCE II

U.S. Federal Agency Activity

In order to inform this report, the Commission sought information about 

human whole genome sequencing research sponsored by the 18 U.S. Common 

Rule agencies, and related privacy protections of the data generated in the 

research they sponsor (see Table 1). The Commission supplemented these 

responses with publicly available information.69

Twelve of the responding agencies stated that they do not conduct research 

involving human genomics, have not advocated formally for policy changes, 

and do not anticipate policy changes related to genomics.70

Table 1: Human Genomics Research in Federal Common Rule Agencies

DEPARTMENT/AGENCY CONDUCTS/

SPONSORS 

RESEARCH 

INVOLVING HUMAN 

GENOMICS

ANTICIPATES 

PROPOSING 

NEW POLICIES

Agency for International Development (USAID) No No

Central Intelligence Agency (CIA) No No

Consumer Product Safety Commission (CPSC) No No

Department of Agriculture (USDA) No Yes

Department of Commerce (DOC) No No

Department of Defense (DOD) Yes Yes

Department of Education (ED) No No

Department of Energy (DOE) No No

Department of Health and Human Services (HHS) Yes Yes

Department of Homeland Security (DHS) Yes No

Department of Housing and Urban Development (HUD) No No

Department of Justice (DOJ) Yes No

Department of Transportation (DOT) Yes No

Department of Veteran Affairs (VA) Yes As needed

Environmental Protection Agency (EPA) No No

National Aeronautics and Space Administration (NASA) No As needed

National Science Foundation (NSF) No No

Social Security Administration (SSA) No No
PRIVACY and PROGRESS in Whole Genome Sequencing

56

Six agencies—the Department of Homeland Security (DHS), the Department 

of Defense (DOD), the Department of Justice (DOJ), the Department of 

Health and Human Services (HHS), the Department of Veterans Affairs 

(VA), and the Department of Transportation (DOT)—currently sponsor 

genetic and/or genomic studies, and five maintain or support biorepositories 

and databases.71 The confidentiality, privacy, and security of samples 

and data stored by federal agencies are governed by a baseline of laws and 

regulations, including the Health Information Technology for Economic 

and Clinical Health (HITECH) Act, the E-Government Act, the Federal 

Information Security Management Act , the Health Insurance Portability and 

Accountability Act (HIPAA), the Privacy Act, and the Policy for Privacy Act 

Implementation and Breach Notification.72 Several agencies have additional 

mission- or function-specific policies that govern the entities they fund that 

perform whole genome sequencing studies. 

DOD uses large-scale genomic data in the DNA Dog Tag program, a 

mandatory program that has collected and stored blood and tissue samples 

from every member of the Armed Forces since 1991. The program does not 

give service members the opportunity to opt out of this collection. DNA 

is extracted from the samples only if needed to assist in identifying human 

remains. Specimens stored in the repository are not used for any other 

purpose unless approved by the Assistant Secretary of Defense for Health 

Affairs. DOD has several policies for protecting and securing genetic information that address disclosure, medical records, and information systems.73

DOD expects to increase the use of whole genome sequencing for forensic 

applications related to human remains identification.74

Agencies within HHS routinely use or sponsor whole genome sequencing. The 

confidentiality and security of samples and data used by HHS are covered 

both by HHS-wide and agency-specific policies, laws, and regulations.75 For 

example, one HHS agency, the Centers for Disease Control and Prevention 

coordinates efforts to conduct whole genome sequencing of residual dried 

blood spots archived by states after newborn screening with parental 

consent.76 The Centers for Disease Control and Prevention also collects DNA 

specimens for its National Health and Nutrition Examination Survey, and 

the confidentiality of identifiable information collected is protected under the 

Public Health Service Act.77 Another HHS agency, the National Institutes 
57

POLICY AND GOVERNANCE II

of Health (NIH), devotes resources to 

studying the influence of genetic factors 

on human health and illness. NIH 

has established a number of genetic 

data repositories, most notably the 

database of Genotypes and Phenotypes 

(dbGaP).78 dbGaP stores various types 

of genetic information, including whole 

genome sequence data. Access to data 

stored in dbGaP is two-tiered: open 

access, which grants the public access 

to information about study design and 

aggregate phenotypic information; 

and controlled access, which grants 

researchers access to information 

including de-identified genotypes 

and phenotypes of individual study 

participants.79 Researchers who seek 

controlled access must submit formal 

research requests that are reviewed 

and approved by NIH Data Access 

Committees.80 NIH has implemented 

policies and procedures to which every researcher with access to dbGaP must 

adhere to protect the privacy and confidentiality of genetic and, specifically, 

whole genome sequence data.81

The Combined DNA Index System (CODIS) is a DNA database funded by the 

Federal Bureau of Investigation (FBI), a Department of Justice agency. CODIS 

consists of DNA profiles from the Convicted Offender Index, the Forensic 

Index, the Arrestee Index, the Missing or Unidentified Persons Index, and the 

Missing Persons Reference Index. The National DNA Index contains almost 

11 million offender profiles.82 CODIS does not contain personally identifiable 

information, nor does it contain whole genome sequence data. To further 

protect the data in CODIS, access to computers containing CODIS software 

is limited to authorized users approved by the FBI. Unauthorized disclosure 

of DNA data in the National DNA database is subject to a criminal penalty.83

INTERNATIONAL BIOREPOSITORIES

While the United States has many 

publicly funded biorepositories of 

limited size, a number of countries 

have implemented or attempted 

to implement population-wide 

biorepositories. 

In the United Kingdom, for example, 

a half million volunteers are being 

recruited to donate genetic material 

to be linked to medical records in 

a biobank. The biobank will obtain 

informed consent from its participants 

and will allow for withdrawal from the 

database. Participants can request: 1) 

complete withdrawal and destruction 

of existing samples, 2) discontinued 

participation but continued use of 

existing data, or 3) no further contact, 

but continued use of existing data. 

Source: UK Biobank [website]. Retrieved from 

http://www.ukbiobank.ac.uk/. 
PRIVACY and PROGRESS in Whole Genome Sequencing

58

DHS uses genetic data, but not whole genome sequence data, in several 

ways. DHS collects DNA from individuals who are arrested, facing charges, 

or convicted of federal or military crimes. DHS also collects DNA from 

non-U.S. citizens who are detained under the authority of the United 

States. U.S. Citizen and Immigration Services can require genetic testing to 

establish familial relationships to determine immigration or refugee status. 

Finally, DHS is piloting a program for overseas refugees who request asylum 

for family members; refugees can be asked to voluntarily undergo familial 

relationship testing using a portable DNA testing device. DHS does not 

generally maintain or have access to the genetic information it collects from 

individuals; it sends DNA samples to the Department of Justice for processing 

and entry into CODIS.84

VA has active research and clinical genomics programs. In 2012, VA launched 

the Million Veteran Program, which aims to collect one million biospecimens 

from veterans to explore the role of genes in health and disease.85 VA treats 

genomic data as personally identifiable medical information protected under 

HIPAA, although it stores the biospecimens securely and without other 

traditional identifiers such as name. VA has applied for a Certificate of 

Confidentiality from NIH, and has several additional departmental policies to 

protect the privacy of identifiable medical information.86 The Million Veteran 

Program database is accessible only to authorized researchers for projects that 

have been approved by appropriate VA oversight committees.87

The Federal Aviation Administration, a Department of Transportation agency, 

is researching human factors related to aviation safety from a gene expression 

viewpoint (gene expression is the process by which genes are translated into 

proteins).88 Specifically, the Federal Aviation Administration is researching 

how alcohol use, fatigue, and cosmic radiation change gene expression and 

is correlating changes in gene expression to human performance to improve 

aviation safety. The Federal Aviation Administration’s intent is to have unique 

sets of molecular markers for these factors that are generally applicable across 

the broad human genetic spectrum with a high degree of specificity. Genetic 

data collected by the Department of Transportation are subject to a number 

of federal data security policies. 
59

POLICY AND GOVERNANCE II

Commercial Genetic Testing Companies

Over the past few years, accessibility and availability of commercial genetic 

testing and genotyping has greatly expanded. Companies like 23andMe, 

Navigenics, and AncestryDNA provide an array of services including 

paternity testing, testing for predisposition to certain diseases and traits, 

genealogy and ancestry information, pharmacogenomics (the influence of 

genomic factors on drug response), and even private forensic tests to establish 

profiles of suspects not included in the federal CODIS database.89 Most 

commercial genetic testing companies currently do not conduct whole genome 

sequencing. Instead, they analyze hundreds of thousands of single-nucleotide 

polymorphisms (SNPs) or discrete variants throughout the genome, which 

they describe as “genotyping.”90 Commercial genetic testing companies often 

conduct research that uses biospecimens submitted by their customers. Most 

recently, 23andMe patented one of their research discoveries, “polymorphisms 

associated with Parkinson’s disease.”91

Commercial entities face issues of data maintenance and storage similar to 

those of government-sponsored biorepositories and databases. They collect 

and analyze genetic and genotypic data and maintain electronic databases of 

consumer data. In addition, many commercial genetic testing companies have 

a research arm that conducts research on consumer data in biorepositories. 

Currently, there are no overarching federal or industry guidelines indicating 

how commercial genetic testing companies should operate, what privacy 

controls they should implement, or what limits they should put on the use 

of genetic data and information. Like government-sponsored biorepositories 

and databases, they can protect consumers by developing systems to promote 

ethical and trustworthy behavior of employees, strengthening the security of 

information technology systems, and developing company policies that hold 

violators accountable. 

Privacy Regulations

Individuals who share their genomic information, like those who share any 

medical data, accept risks to their privacy and confidentiality should the data be 

improperly shared or used. Rather than a broad framework that provides general 

privacy protections, the United States has developed a patchwork of subjectspecific regulations to protect the privacy of different types of information.92
PRIVACY and PROGRESS in Whole Genome Sequencing

60

This system of subject-specific regulations includes, for example, regulations 

that protect census data, financial information, medical records, and video 

rental records, but does not include regulations that protect personally 

identifiable information that is not financial or medical, including name, 

address, occupation, affiliations, or internet activity.93 As a matter of respect 

for persons as well as justice and fairness, a government can institute laws and 

regulations that help mitigate risks to individuals who share whole genome 

sequence data, and it can protect individuals from unwillingly or unwittingly 

sharing their whole genome sequence data. But it cannot eliminate all privacy 

risks while still effectively encouraging scientific, economic, and social 

progress. Just as the Commission strongly supports effective protections of 

privacy, it also emphasizes that sharing whole genome sequence data for the 

sake of medical research holds great potential for public benefit. The principle 

of public beneficence strongly encourages this sharing in a setting that 

provides adequate protections of privacy. 

U.S. Privacy Regulations

The collection and protection of personally identifiable information is not 

new. The United States has collected personally identifiable information 

through the census and the tax systems since its early history. The government 

has recognized the importance of keeping this information secure and has 

implemented protections to ensure the privacy and security of these data.94

Privacy laws and regulations permit but regulate cross-agency matching 

of collected data, and establish precedent that personal data shared by an 

individual for one specific purpose should not be used to other ends, such as 

law enforcement or judicial proceedings, without their consent. In addition, 

traditional identifying information often is removed from the data files.95

The United States has made several sectoral legislative attempts to regulate 

the privacy and security of personal data. These laws include the Fair Credit 

Reporting Act; the Privacy Act of 1974; the Confidentiality of Alcohol and 

Drug Abuse Act; the Family Educational Rights and Privacy Act of 1974; the 

Electronic Communications Privacy Act of 1986; the Video Privacy Act of 

1988; the Children’s Online Privacy Protection Act of 1998; and the GrammLeach-Bliley Act of 1999, also known as the Financial Services Modernization 

Act (requiring financial institutions to protect consumer privacy).96
61

POLICY AND GOVERNANCE II

Figure 2: U.S. Federal Privacy Laws 1970 1980

1990

2000

2010

1986

Electronic 

Communications 

Privacy Act

1998

Children's

Online Privacy 

Protection Act

1999

Financial

Services 

Modernization

Act

1970

Fair Credit

Reporting Act

1988

Video Privacy

Protection Act

1996

Health Insurance

Portability and

Accountability Act

2009

Health Information 

Technology 

for Economic 

and Clinical 

Health Act

1974

Privacy Act

Family Education

Rights and

Privacy Act

Confidentiality 

of Alcohol and 

Drug Abuse Act

2008

Genetic 

Information

Nondiscrimination

Act

The laws cited above generally comport with “fair information practice” principles and practices first set forth in the Department of Health, Education, 

and Welfare (the precursor of HHS and the Department of Education) report, 

“Records, Computers and the Rights of Citizens.”97 The practices include 

the following principles: 1) there must be no personal data record-keeping 

systems whose very existence is secret; 2) individuals must be able to find 

out what personal information about them is in a record and how it is used; 
PRIVACY and PROGRESS in Whole Genome Sequencing

62

3) individuals must be able to prevent information obtained for one purpose 

from being used for other purposes without consent; 4) individuals must be 

able to correct or amend a record of identifiable information; and 5) any organization creating, maintaining, using, or disseminating records of identifiable 

personal data must assure the reliability of the data for their intended use and 

must take reasonable precautions to prevent misuse of the data.98

IDENTIFYING INFORMATION 

UNDER HIPAA

Names

Address

Dates 

Phone numbers

Fax numbers

Email addresses

Social security numbers

Medical record numbers 

Health plan beneficiary 

numbers 

Account numbers

Certificate/license numbers

Vehicle identifiers 

Device identifiers and serial 

numbers

Web URLs

Internet protocol (IP) addresses 

Biometric identifiers, including 

finger and voice prints

Full face photographic images 

and any comparable images

Any other unique identifying 

number, characteristic, or code 

(with certain exceptions) 

HIPAA, enacted in 1996, is the federal law 

most relevant to medical privacy.99 Pursuant 

to the authority of Title II, HIPAA sets 

forth policies, procedures, and guidelines 

for maintaining the privacy and security of 

personally identifiable health information.

The HIPAA-mandated Privacy Rule was 

finalized in 2005. The Privacy Rule defines 

the circumstances in which an individual’s 

protected health information—including 

any identifiable information—may be 

used or disclosed by a covered entity.100 A 

covered entity is a health plan, a health care 

clearinghouse, or a health care provider 

that transmits any health information in 

electronic form.101 Under HIPAA, health 

information is not “identifiable” if there 

is “no reasonable basis to believe that the 

information can be used to identify an 

individual” or if it is stripped of the HIPAA 

identifiers.102 An individual’s privacy rights 

under the Privacy Rule survive death.103

While it is clear that genetic information 

is health information under HIPAA, HHS 

has stated that it is only covered by the 

Privacy Rule to the extent that it meets the 

definition of protected health information.104

HHS has not clarified whether genetic or genomic information on its own 

is protected health information—that is, whether it falls under one of the 
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POLICY AND GOVERNANCE II

HIPAA identifiers, such as “biometric identifier” or “any other unique 

identifying number, characteristic, or code.”105

A covered entity must disclose an individual’s protected health information to 

him or her when specifically requested, and to HHS in the event of a compliance investigation or enforcement action.106 A covered entity may disclose 

protected health information without consent in specifically enumerated 

circumstances, including for purposes related to treatment, payment, public 

health, and health care operations. A covered entity that discloses protected 

health information, however, must try to disclose only the minimum necessary to achieve its purpose.107 There are no restrictions on the use or disclosure 

of de-identified health information, which is information that neither identifies nor provides a reasonable basis with which to identify an individual.108

HITECH updated and revised HIPAA to extend slightly its privacy protections. HITECH adds business associates of covered entities to the list of those 

who can be subject to liability for disclosure of protected health information. 

It also strengthens the accounting requirements for the protection of health 

information, and imposes new notification requirements for covered entities 

to comply with when a breach has occurred.109 The Office of the National 

Coordinator for Health Information Technology was created in 2004 through 

an Executive Order, and legislatively mandated in the HITECH Act. Its 

mission is to coordinate nationwide efforts to implement and use the most 

advanced health information technology and the electronic exchange of 

health information.110

While the requirements of HIPAA and HITECH apply only to “covered entities,” most academic institutions and federal agencies are required to follow the 

rules set forth for human research under the Common Rule. The Common 

Rule is a federal regulation governing human research in the United States 

that requires federally funded scientific research to be subjected to independent 

review by an institutional review board (IRB), have equitable subject selection, use procedures consistent with sound research design, minimize risks to 

participants, and obtain informed consent. Informed consent by participants 

must generally include, among other things, a description of the procedures in 

the research plan, an explanation of the risks and benefits to the participant, a 

description of the extent to which confidentiality of records will be maintained, 

and an explanation of the right to withdraw from the study.111
PRIVACY and PROGRESS in Whole Genome Sequencing

64

Currently, whole genome sequence data obtained in the clinical context 

can be stripped of traditional identifiers and used for research purposes 

without IRB review or additional consent. This is because whole genome 

sequence data, when stripped of traditional identifiers (such as name or 

address), are not considered readily identifiable under the Common Rule.112

The logic behind this is that while whole genome sequence data are unique 

to an individual, without a key that matches particular data to an identity, 

one could not readily ascertain which person the whole genome identifies. 

Similarly, while fingerprints are considered identifiable for law enforcement 

purposes, a fingerprint with no personal identifying information cannot 

point to whom that fingerprint belongs. In other words, a fingerprint does 

not have a name or address encoded directly in it. To discover the suspect’s 

identity, one must link the print to a database containing both traditional 

personal identifiers and fingerprints in order to know which person to 

arrest. Only research that uses data where the identity of the subject is, 

or may readily be, determined is considered human research under the 

Common Rule. Research using data stripped of traditional identifiers is not 

considered human research and therefore does not trigger Common Rule 

protections such as IRB review or consent. 

Research using whole genome sequence data that have not been stripped of 

traditional identifiers (e.g., readily identifiable information) is considered 

human research. Accordingly, this research is governed by the Common Rule, 

meaning that IRB approval and informed consent must be obtained or waived 

by an IRB before the research can occur. 

HHS recently published an Advanced Notice of Proposed Rulemaking 

(ANPRM), entitled Human Subjects Research Protections: Enhancing Protections 

for Research Subjects and Reducing Burden, Delay, and Ambiguity for Investigators, 

and collected comments on whether some types of genomic data should be 

considered identifiable. This ANPRM acknowledges that “there is an increasing 

belief that what constitutes ‘identifiable’ and ‘de-identified’ data is fluid” and 

that evolving technologies and the increasing accessibility of data could allow 

de-identified data to become re-identified.113 It also highlights the concern 

that “advances that have come in genetic and information technologies” 

might “make complete de-identification of biospecimens impossible and 

re-identification of sensitive health data easier.”114 This is an ongoing discussion. 
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POLICY AND GOVERNANCE II

A change to the Common Rule pertaining to identifiability could impact the 

collection and subsequent use of whole genome sequence data.

International Approaches to Regulating Genetic Information

The United States is not the only country deciding how best to prevent the misuse 

of genetic information. No international models yet exist regarding the misuse 

of and specific protections for whole genome sequence data. Some countries 

have enacted general privacy laws that encompass personal health information; 

patient rights’ acts that regulate, among other things, informed consent and 

confidentiality of medical information; and legislation that specifically regulates 

genetic information and genetic research. These laws differ from U.S. law, which 

is focused on prohibiting discrimination resulting from disclosure of genetic 

information rather than ensuring privacy of genetic information. 

Many countries and foreign bodies have broad laws that regulate the use of 

personal information.115 Some of these, such as the European Union’s Data 

Protection Directive, offer special protection for more sensitive data, including 

personal health information.116 These privacy laws are far reaching—covering 

private and public institutions and many types of data—and are often 

overseen by data commissions or commissioners.117

In addition to these general data protection laws, many countries also 

have enacted patient rights’ laws that prohibit discrimination and require 

confidentiality of patients’ health information. These laws often require 

informed consent for disclosure of personal health information.118 Some of 

these laws, like those in the United States, also require that patients have 

access to their own medical records.119

In recent years, some countries have enacted laws specifically regulating 

genetic information and research. For example, Chile enacted a law in 2006 

regulating genetic research that prohibits discrimination on the basis of 

genetic heritage and requires informed consent for research, confidentiality of 

genetic information, and anonymization of genetic data.120 Some of these laws 

allow genetic testing only for individual health reasons or scientific research.121
PRIVACY and PROGRESS in Whole Genome Sequencing

66

Legal Protections of Genetic and Whole Genome Sequence Data

In light of mounting concerns about genetic privacy at the onset of the 

Human Genome Project, the U.S. Congress adopted legislation protecting 

against genetic discrimination. In 2008, Congress passed GINA, which 

aims to prevent genetic discrimination in 

the health insurance market (Title I) and 

in employment decisions such as hiring, 

firing, job assignments, and promotions 

(Title II). 122 GINA does not protect 

against discrimination in the context of life 

insurance, disability insurance, or long-term 

care insurance. GINA’s protections apply to 

asymptomatic individuals, not those who 

have “manifested disease.”123 Nor does it 

prescribe rules for genetic research.124 GINA 

also expanded HIPAA privacy protections 

by applying prohibitions against genetic 

discrimination to all health insurers. 125

Under Title I of GINA, all health insurers are barred from: 1) using genetic 

information to determine coverage, eligibility, or premiums; 2) requesting or 

requiring genetic testing or genetic information for underwriting decisions; and 

3) obtaining genetic information for underwriting purposes.126 Additionally, 

insurers may not, on the basis of genetic information, impose a preexisting 

condition exclusion.127 GINA extended HIPAA protections to cover persons 

purchasing individual, rather than group, health insurance policies.128

GINA substantially expanded protections from genetic discrimination 

in employment. Under Title II of GINA, an employer with more than 15 

employees cannot use an individual’s genetic information when making 

employment decisions such as hiring, firing, job assignments, and promotions, 

nor can an employer request, require, or purchase genetic information about 

an individual employee or family member. 

Although GINA prohibits specific types of misuse of genetic information by 

health insurers and employers, it does not address the use of or access to 

“There is certainly more room 

for legislation about privacy... 

the Genetic Information 

Nondiscrimination Act...is only 

a start. There are many more 

protections that the patient 

community would like that are 

not present in GINA.”

Greg Biggers, Council Member, 

Genetic Alliance; Chief Executive 

Officer, Genomera. (2012). Genomic 

Privacy, Data Access, and Health IT. 

Presentation to PCSBI, May 17, 2012. 

Retrieved from http://bioethics.gov/

cms/node/713.
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POLICY AND GOVERNANCE II

genetic data. In other words, GINA is an anti-discrimination law; it does not 

provide comprehensive privacy protections. 

GINA provides a uniform federal law as a floor of protections against 

genetic discrimination, but also allows for state laws that provide additional 

safeguards.129 Slightly fewer than half of all U.S. states have laws providing 

additional protection against discrimination in aspects of life, long-term care, 

or disability insurance not present in GINA.130

About half of the U.S. states have policies governing genetic privacy. There 

is a great degree of variation, however, in what protections states afford their 

citizens regarding the collection and use of genetic data and, similar to the 

federal level, none have specific prohibitions for whole genome sequence 

Table 2: Examples of State Genetic Privacy Laws

STATE PROTECTIONS

Arizona

AZ Rev. Stat. §12-2801-4, 

§20-448.02; 21

Requires informed consent for genetic testing performed by health care 

providers, but does not address whether a non-health care provider may 

collect or analyze genetic material.

Oklahoma

Okl. St. § 1175

Provides privacy protections for genetic information obtained from 

newborns, but does not provide similar protections for adult genetic data.

Hawaii

HRS §§ 431:10A-118

Prohibits disclosure of genetic information by insurers, but does not specify 

the same for health care providers, nor does it protect against unwanted 

analysis of genetic material.

Missouri

§ 375.1309 R.S.Mo. 

Prohibits the disclosure of genetic information by persons who hold such 

information “in the course of business,” but does not address persons who 

have obtained it for any other reason.

Rhode Island

R.I. Gen. Laws §27-18-52, 52.3, 

§27-19-44, 44.1, §27-20-39. 39.1, 

§27-41-53, 53.1

Prohibits the unauthorized disclosure of genetic information by insurance 

companies, but does not prohibit unauthorized disclosure by anyone else 

who may have access to genetic information.

Vermont

V.T. Stat. Ann. tit. 18, §9331 to 9335

Prohibits people from performing genetic tests without consent and from 

disclosing the results of genetic tests without consent, but does not 

regulate the unauthorized obtaining or retention of genetic information.

Wyoming

Wyo. Stat. Ann. §14-2-701 to 710

Prohibits the disclosure of genetic tests for paternity without consent, but 

does not address any other kinds of genetic tests.

Michigan

Mich. Comp. Laws §§ 333.17020, 

333.17520

Prohibits the performing of a genetic test by a health care provider without 

consent, but does not address performance of genetic tests by any other 

party, and does not prohibit unauthorized obtaining, retaining, or disclosure 

of genetic tests by any party.
PRIVACY and PROGRESS in Whole Genome Sequencing

68

data. Some states protect against the improper collection of genetic material without consent.131 Others protect against the improper disclosure of 

genetic information (and several of these states’ laws do not specify to whom 

the disclosure is prohibited, whether to the donor or another party).132 Still 

others protect against improper retention of genetic information without 

consent.133 The result of the variation in state laws is that there is no standard 

or comprehensive approach to the protection of genetic information in the 

United States, and the level of protection afforded to an individual’s genetic 

information differs widely from state to state (for more information regarding 

the diversity of state law genetic protections, see Table 2 and Appendix IV: 

U.S. State Genetic Laws). 

The U.S. Supreme Court has not established a constitutional right to 

informational privacy applicable to whole genome sequence data. Although 

the Supreme Court has addressed privacy rights of biomedical information in 

the context of the Fourth and Fourteenth Amendments, there is no case law 

addressing informational privacy in the context of whole genome sequencing.134

Legal protections might be afforded if individuals have state property rights 

over their biospecimens, though courts have generally favored scientists over 

individuals from whom the specimen was taken.135 The most famous case is 

Moore v. Regents of the University of California in which the Supreme Court of 

California held that individuals are entitled to informed consent, but do not 

maintain property or privacy rights over cells after they have been removed 

from their body.136

State contract law also may provide legal protection if an individual has signed 

an informed consent document. In the context of genetic databases, researchers 

and participants can contractually determine who can access or use the data 

and on what terms, and the penalties for misusing protected information. 

Conclusion

There is considerable concern in modern society about unauthorized or unintended disclosures of genetic information. While GINA prohibits genetic 

discrimination in the health insurance and employment contexts, it does 

not regulate use, access, security, or disclosure of genetic data, and does not 

specifically address whole genome sequence data or information. State-based 
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POLICY AND GOVERNANCE II

privacy laws, consent forms, and IRBs collectively create a patchwork of 

privacy protections, but they neither comprehensively nor consistently protect 

the whole genome sequence data of individuals. In an era in which genomic 

data increasingly are stored and shared using biorepositories and genetic databases, there is little to no systematic oversight of these facilities. 

To address the complex privacy and data security issues that arise in this arena, 

we need each of three robust facets of privacy and confidentiality protections of 

whole genome sequence data: individual researchers and clinicians; information 

technology systems; and laws, regulations, and institutional policies. Protection 

of personally identifiable data requires attention at all three broad facets of 

responsibilities. Individuals who collect, handle, store, and use data must 

recognize the ethical imperative of protecting the privacy of persons from whom 

they collect data. The information technology systems should be designed to 

protect persons by prohibiting the unauthorized access and release (intentional 

or unintentional) of identifiable data and protecting databases from intrusion. 

Laws and policies must protect persons from negative consequences of 

disclosure of information (e.g., discrimination) as well as enforce accountability 

and consequences for unauthorized access or disclosure. 

It is clear that laws and regulations cannot do all of the work necessary to 

provide sufficient privacy protections for whole genome sequence data. 

Together with laws and regulations preventing misuse of data, individuals 

who receive such data have professional ethical obligations to protect the data 

that go beyond the limitations of the legal protections. Moreover, given how 

rapidly whole genome sequence technology is changing, it is in some ways 

preferable to adopt professional guidelines and policies rather than enact 

additional laws, since professional guidelines and policies are updated far 

more easily.137 Guidelines and policies also might help those affected consider 

more deeply the privacy considerations at issue rather than focusing entirely 

on compliance with the letter of the law.138
PRIVACY and PROGRESS in Whole Genome Sequencing

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71

CHAPTER 3

Analysis and Recommendations
PRIVACY and PROGRESS in Whole Genome Sequencing

72

For this report on whole genome sequencing, the Commission has been 

mindful of the five ethical principles set out in its first report, as described 

in detail in Chapter 1. These principles for assessing emerging biotechnologies 

are public beneficence, responsible stewardship, intellectual freedom 

and responsibility, democratic deliberation, and justice and fairness. The 

Commission’s principles complement and build upon the Belmont principles 

of respect for persons, beneficence, and justice. The Commission drew on 

both sets of principles to develop recommendations that facilitate responsible 

development of, access to, and use of whole genome sequencing. 

The Commission focused on the principle of respect for persons by seeking to 

minimize risks to individuals willing to share their whole genome sequence 

data. Although individual benefits of whole genome sequencing are emerging, 

they are more elusive than predicted a decade ago. Many of the benefits 

anticipated from advances in whole genome sequence research will accrue to 

society generally through, for example, improved diagnosis and public health 

resulting from efficient medical treatment. Related privacy risks, however, 

primarily fall to individuals willing to share their genomic information. 

Risks might also fall to blood relatives of these individuals who carry similar 

genomic variants, thereby raising the stakes of privacy concerns in whole 

genome sequencing compared with most other types of research. 

Strong privacy protections enable individuals to determine autonomously 

their preferred level of data and information sharing. When individuals have 

control and can govern sharing of their data at a level with which they are 

comfortable, they are more likely to have trust in the research or clinical 

enterprise, and are more likely to participate and share data, benefiting society 

generally. These privacy interests are served by robust informed consent, data 

security provisions, and systematic oversight.

With the above in mind, the Commission identified the following areas for 

ethical analysis:

•	 Standards that allow individuals, if they wish, to access and share their whole 

genome sequence data and information;

•	 Security of whole genome sequence data and information and standards of 

access to and use of whole genome sequence databases; 
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ANALYSIS AND RECOMMENDATIONS III

•	 Informed consent to whole genome sequencing in the contexts of clinical 

care and research;

•	 Oversight of collection, storage, access, and use of whole genome sequence 

data and information; and 

•	 Distribution of benefits from medical advances resulting from whole genome 

sequencing.

The recommendations presented in this chapter apply to individuals and entities 

that have an interest in, and work with, whole genome sequence data and 

information, both in the public and private sectors. Whole genome sequence 

data collected in the clinical setting are indistinguishable from whole genome 

sequence data collected in the course of research, and data increasingly move 

back and forth between the clinical and research settings. Ethical principles 

providing guidance in this area are based on a shared morality. While the 

implementation of recommendations that follow might be different depending 

on the entity involved in the collection, storage, access, and use of whole 

genome sequence data, the ethical issues at stake are the same. 

The Commission’s recommendations are also based on the fact that whole 

genome sequence data are inherently unique, meaning there is only one 

person in the world with that specific sequence. If the identity of the donor is 

not apparent to the user of the data, that individual is not readily identifiable. 

However, whole genome sequence data are often most useful when linked 

with information about physical characteristics, environmental factors, and 

medical records. These additional pieces of information, in turn, might make 

whole genome sequence data readily identifiable. 

The Commission sees promise in the application of information technology 

to the field of whole genome sequencing. Information technology is able to 

tailor access to data with a degree of specificity not possible with traditional 

medical records, potentially making all types of whole genome sequence data 

more secure. 

Uses of whole genome sequence data are rapidly evolving, and some of these 

uses do not fit easily into the current regulatory framework. The Commission, 

therefore, has crafted its recommendations to call attention to areas where it 

believes that current laws, regulations, and policies need to be reconsidered to 
PRIVACY and PROGRESS in Whole Genome Sequencing

74

honor applicable ethical principles and ensure that whole genome sequencing 

is most effectively used to the benefit of society and its individuals.

Strong Baseline Protections While Promoting Data Access and Sharing

Whole genome sequencing increasingly is being incorporated into clinical care 

and research. Presently, numerous national and state policies are in place to 

guard personally identifiable health information and records of participation 

in research.139 These policies should apply to all handlers of the data, from 

those who collect the data, to researchers, to third-party storage and analysis 

providers.140 Privacy protection is an essential component of oversight of 

the use of whole genome sequencing in research and clinical care. Privacy 

protections should guard against unauthorized access to, and illegitimate uses 

of, data and information while allowing for authorized users of these data to 

advance public health. 

For both ethical and practical purposes, it is important to carefully distinguish 

between access to, use of, and possession of whole genome sequence data. Access

means being able to come in contact with the information, whether physically 

or electronically. It would be impossible to limit physical access to all sources of 

whole genome sequence data. We leave behind specimens containing our DNA 

in myriad public places—by discarding a coffee cup, for example—that could be 

used to perform whole genome sequencing. (It is more feasible of course to protect 

electronic access to whole genome sequence data in biorepositories and databases.) 

While individuals might have abandoned these genomic samples to public access, 

they nonetheless have a strong interest in whether the data they contain are 

collected and how they are used. On the other hand, sometimes persons might 

have authorized access to whole genome sequence data but misuse the information 

(e.g., by sharing information with a reporter). In certain cases, others simply have 

no right to know certain things about other people, no matter what they do with 

the information.141

Unauthorized access to data is not necessarily a problem in and of itself—

despite having access to information, one can choose to not use it, and thereby 

not produce any harm. Misuse of information can therefore be more ethically 

significant than unauthorized access.
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ANALYSIS AND RECOMMENDATIONS III

Laws and regulations can prohibit unauthorized parties from accessing or 

misusing whole genome sequence data, but it is impossible to guarantee that 

this will not occur. Laws and regulations can, however, provide deterrents 

to inappropriate access or misuse (such as fines), and compensation for the 

individuals whose data have been inappropriately accessed or misused. 

AN EXAMPLE OF 

COMPUTATIONAL ACCESS

Google, a major internet search 

engine, has collected data from 

its customers’ internet activity. 

Google views these data as a 

commercial asset and does 

not share possession of them. 

However, Google tools, such as 

Google Correlate and Google 

Trends, allow users to query 

Google’s collected data. A user 

can search for “stapler” to 

ascertain whether stapler and 

staple sales correlate, but users 

receive only the answer to their 

question (not access to the data 

mined by Google yielding the 

result). By using computational 

access, Google can give users 

access to answers, but not 

access to the data.

Source: Google. (n.d.). Google Trends. 

Retrieved from http://www.google.com/

trends/.

Presentations to the Commission also 

indicated that authorized individuals can 

use data without having actual possession

of those data.142 Technologies are being 

developed that allow “computational” access 

to data sets, which allow access and use 

without the user possessing the data set. In 

computational access, the data are possessed 

by a central party, but others can remotely 

perform analyses (i.e., use) of the data. 

Developments in the science of whole 

genome sequencing, which are progressing 

quickly, will require ongoing ethical 

consideration and democratic deliberation. 

Individuals and groups have differing sensibilities toward the privacy and publicity of 

whole genome sequence data, which might 

be relevant to distinguishing between 

acceptable and unacceptable uses of data. 

Perceived misuses of whole genome sequence 

data vary between cultures and individuals. 

For example, some individuals might be 

open to having a secondary researcher use 

his or her whole genome sequence data for an ancestry study. Members of 

the Havasupai tribe, on the other hand, strongly disapproved of their samples 

being used in ancestry studies, because these studies contradicted their traditional origin beliefs.143 Some parents do not object to using Guthrie card 

newborn blood screening spots in future research without consent. Notable 

lawsuits in Minnesota and Texas, however, have indicated that some parents 

feel otherwise.144 Requiring consent for future uses of readily identifiable 
PRIVACY and PROGRESS in Whole Genome Sequencing

76

whole genome sequence data, and encouraging consent for future uses of any 

data, are important to appropriate use. However, it is difficult to consent to all 

specific future uses in rapidly advancing scientific technology.

While privacy and confidentiality remain imperatives for protecting whole 

genome sequence data, it is also important to recognize that the American 

public, generally speaking, has become more open about communicating their 

health information. The development of online resources and communities 

reflects a shift in societal notions of what data should remain private 

(regardless of whether individuals would want to make it public). People now 

freely share information that was once considered inherently private or not 

suitable to be shared with a broad audience. The arrival of whole genome 

sequencing in health care has coincided with an era of greater openness about 

diseases that used to carry social stigma, such as HIV/AIDS, cancer, and 

mental health conditions. Many patients may choose to publicly share their 

stories, although others might not for privacy reasons.

Social attitudes about privacy are changing. There have been shifts not 

only in what information is considered private but also in how entities can 

realistically be expected to protect that privacy. Technological advances can 

trigger the creation of new privacy policies, such as the National Institutes 

of Health’s (NIH) updated genome-wide association study policies.145 While 

policy makers continue to focus on genetic non-discrimination policies that 

protect those whose privacy has been compromised, they have also begun 

to focus on data security policies that protect the data in the first place.146

Finally, informed consent practices increasingly acknowledge that absolute 

privacy cannot be guaranteed.147 Policies likely will evolve as notions of 

privacy continue to change. Future policies need to be flexible so that they 

can adapt to such advances in data security and information technology.

Recommendation 1.1

Funders of whole genome sequencing research; managers of research, clinical, 

and commercial databases; and policy makers should maintain or establish 

clear policies defining acceptable access to and permissible uses of whole 

genome sequence data. These policies should promote opportunities for 

models of data sharing by individuals who want to share their whole genome 

sequence data with clinicians, researchers, or others.
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ANALYSIS AND RECOMMENDATIONS III

Strong baseline privacy protections require 

a spectrum of policies starting with data 

handling through the protection of persons 

from future disadvantage and discrimination 

arising from misuse of their whole genome 

sequence data. It is critical, however, to 

ensure that privacy regulations allow 

individuals to share their own whole genome 

sequence data with clinicians, researchers, 

and others in ways that they choose. 

Policy makers should also revisit efforts to 

strengthen protections against, and sanctions 

for, discrimination by treating the Genetic 

Information Nondiscrimination Act as a floor, 

not a ceiling, of protection. For example, 

because GINA does not cover symptomatic 

persons or address discrimination in life, 

disability, or long-term care insurance, persons 

with genetic diseases and predispositions are 

vulnerable to discrimination.148

DATA PROTECTIONS THAT 

MOVE WITH THE DATA

The President’s Council 

of Advisors on Science 

and Technology advocates 

a “tagged data element 

approach [that] allows for a 

sophisticated, fine-grained 

model of implementing strong 

privacy controls (including 

honoring patient-controlled 

privacy preferences where 

applicable) and strong security 

protection.” This approach 

encourages privacy protections 

to move with the data across 

institutions, as opposed to 

changing protections based on 

the handler. 

Source: President’s Council of Advisors 

on Science and Technology. (2010, 

December). Report to the President 

Realizing the Full Potential of Health 

Information Technology to Improve 

Health care for Americans: The Path 

Forward, p. 52. Retrieved from http://

www.whitehouse.gov/sites/default/

files/microsites/ostp/pcast-health-itreport.pdf.

Advances in information technology should 

be pursued that promote appropriate use 

of whole genome sequence data while safeguarding access to data files. For example, computational models that limit 

access to data files without preventing researchers’ ability to analyze these data 

can be a valuable tool to protect privacy. 

Last, policies regarding access to and use of data should take into consideration varying cultural, ethnic, and racial views about what might or might 

not constitute a misuse of data.149

Currently, about half of the U.S. states have laws or regulations governing 

genetic privacy that outline illegitimate uses of these data. However, there 

is tremendous variation in these laws. In some instances, it is difficult to 
PRIVACY and PROGRESS in Whole Genome Sequencing

78

determine whether a state prohibits surreptitious testing of genetic material 

from an unwilling donor because of unclear language in the statutes. Some 

states prohibit unauthorized acquisition or analysis of genetic information, 

while others prohibit only unauthorized disclosure (and it is often unclear 

to whom disclosure is prohibited). Some laws at the state level encompass all 

genetic information, while others address only health-related information, 

or information obtained or used in particular settings (e.g., employment or 

insurance discrimination).150 Therefore, whether genetic testing or whole 

genome sequencing without the consent of the donor is prohibited can 

depend on a combination of factors: who conducts the test, to whom the 

DNA belongs, what the test attempts to determine, how the results will be 

used, and in what state the testing takes place.151 Moreover, no states have 

laws or regulations specific to whole genome sequence data; some states have 

laws that include the words “DNA” and “genetic,” although it is unclear 

whether these laws might be interpreted to cover whole genome sequence 

data and information.

Some of the topics specified in existing genetic laws could be used for whole 

genome sequencing laws as well. Types of regulations that would translate 

effectively into genomic protections include those regarding:

•	 Defining restrictions on what information can be stored in a biorepository, 

biobank, or genomic research database; 

•	 Sharing of whole genome sequencing data, and if clinical data are shared 

with researchers, what type of information can be shared (e.g., stripped of 

traditional identifiers or not), and penalties for violations; and

•	 Using whole genome sequence information for life, disability, or long-term 

care insurance. 

When individuals are asked about their concerns with respect to online 

health information, most focus on illegitimate uses of the data. They also 

cite discrimination, such as unauthorized use by insurers or employers, or use 

of their data for marketing purposes.152 However, the existing patchwork of 

state protections—with some states having no laws and the others having an 

inconsistent potpourri of legal prohibitions—does not protect all individuals 

from unauthorized uses. These uneven protections might also affect the 

development of trust in contexts where individuals are asked to share their whole 
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ANALYSIS AND RECOMMENDATIONS III

genome sequence data for the public benefit in the course of research, clinical 

care, or commerce. Like all medical information, whole genome sequencing 

data should be ensured baseline privacy protections in all jurisdictions.

Recommendation 1.2

The Commission urges federal and state governments to ensure a consistent 

floor of privacy protections covering whole genome sequence data regardless 

of how they were obtained. These policies should protect individual privacy 

by prohibiting unauthorized whole genome sequencing without the consent 

of the person from whom the sample came.

Currently federal and state laws protect data dependent on who collected 

them (i.e., a clinician, researcher, or consumer). Although a whole genome 

sequenced in the clinic is the same as a whole genome sequenced during 

research, data collected in the course of clinical care are governed by the 

Health Insurance Portability and Accountability Act, while data collected 

in the course of research are governed by the federal Common Rule for 

human research. The exact same data are treated differently depending on 

who collected the sample. Clinical data are collected to benefit the patient, 

while research data are collected to advance science and health care generally. 

However, the blurring of clinical and research lines, particularly in the field of 

whole genome sequencing, compels reconsideration of the differences between 

how clinical and research data are protected.

In addition, while the requirement for consent to whole genome sequencing is 

regulated in the clinical and research contexts (depending, to some extent, on 

whether or not traditional identifiers—such as name, address, or social security 

number—are attached to the sample), commercial genetic testing has opened 

a new loophole in privacy protections. One can now pick up a discarded coffee 

cup and send a saliva sample to a genetic testing company.153 The potential 

consequences of unauthorized surreptitious testing could be profound (e.g., 

revealing disease risks to sway the disposition of a custody battle).154 There are, 

of course, exceptions to this need for consent, such as use for legitimate law 

enforcement purposes. The Commission therefore recommends the prohibition 

of “unauthorized” whole genome sequencing—a term intended to carve out an 

exception for legitimate law enforcement.
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80

Data protections should be tied to the nature of the data, not who collects 

them. Widely shared norms of justice and fairness dictate that similar kinds 

of data should be treated in similar ways, no matter in which state or health 

facility they are sequenced. If protections are inherent to the data, they should 

follow the data and dictate appropriate use. For example, meta-data tags could 

be used to encode the level of security protections required for the data file 

and elements of consent (e.g., these data can/cannot be used in reproductive 

research). Using this approach, data will receive appropriately consistent use 

protections throughout their life span. More consistency in state protections 

of genetic and genomic data could also enhance privacy.

Treating like data alike is crucial to ensuring consistent protections for whole 

genome sequence information across the United States. Although states 

should enact genomic policies that are most relevant and important to their 

constituents, bringing such protections to a minimum standard that addresses 

privacy—while still allowing individuals to share their own data—would 

provide just and fair protections regardless of where one happens to reside. 

Because the options for implementation of such protections are unclear, the 

Commission recommends that experts in federal law, state law, policy, and 

privacy be brought together to engage in further democratic deliberation 

regarding acceptable access to and permissible use of whole genome sequence 

data. The Commission will consider following up with stakeholders regarding: 

1) suggested requirements to ensure a floor of protection of whole genome 

sequence data and data sharing in all states; and 2) the practical steps necessary 

to accomplish this goal, such as federal, state, or non-regulatory interventions. 

Data Security and Access to Databases

Respect for persons requires honoring data privacy. Data privacy requires data 

security. Data security requires ethical responsibility and accountability from all 

those who handle whole genome sequence data and information. It must further 

be supported by policies and infrastructure to protect safe sharing of data. 

Authorized users must have access to whole genome sequence databases to 

conduct research and make advances that will contribute to improved medical 

diagnostics and treatment for all. Security should allow only authorized 
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individuals to access these data. However, breaches of unsecured protected 

health information have been publicized in the past, and can cause patients 

and research participants to doubt the security of their data. Unsecured health 

information can be accessed by unauthorized persons through means such as 

the loss or theft of unencrypted information on data storage devices, hacking 

of network servers, unauthorized disclosure, or improper disposal of paper 

records.155 In a recent case, the unencrypted health information of over 800 

patients was inadvertently embedded in PowerPoint presentations that were 

posted online.156 In light of the possibility 

of data security breaches, it is important to 

address misuse of whole genome sequence 

data rather than wholly relying on preventing 

unauthorized access to these data.

When told of data hacking, some assume 

that the transition of private information 

to an electronic format makes it less safe. 

Quite the opposite might be true. In many 

respects, advances in information technology 

can be used to strengthen data security. For 

example, electronic files bear marks of who 

accessed them and when, allowing for more 

fine-tuned file tracking than is possible with 

paper records that may be surreptitiously 

accessed without a trace. In addition, current 

technology allows data files to be analyzed without the need to export the 

data files to other networks, that is, computational access can be allowed 

without data transfer. Even when individuals are willing to share their readily 

identifiable data and information for use in research, they might not want 

copies of their information saved on computers around the world. Access to 

and sharing of data files do not have to be one and the same. The Commission 

supports ongoing exploration and development of a set of best practice models 

that separate possession of, access to, and use of data.157

Recommendation 2.1

Funders of whole genome sequencing research; managers of research, clinical, 

and commercial databases; and policy makers should ensure the security of 

“Technology can help save 

privacy, it can change your 

thinking, whether [it is] with 

respect to setting norms, [or] 

whether [it is] with respect 

to changing the way you 

set up the platform so that 

the platform can do more 

[computational] analysis...

versus sharing the data 

around.”

Latanya Sweeney, Visiting Professor 

and Scholar, Computer Science 

Director, Data Privacy Lab, Harvard 

University. (2012). How Technology 

is Changing Views of Privacy. 

Presentation to PCSBI, August 1, 

2012. Retrieved from http://bioethics.

gov/cms/node/748.
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82

whole genome sequence data. All persons who work with whole genome 

sequence data, whether in clinical or research settings, public or private, 

must be: 1) guided by professional ethical standards related to the privacy 

and confidentiality of whole genome sequence data and not intentionally, 

recklessly, or negligently access or misuse these data; and 2) held accountable 

to state and federal laws and regulations that require specific remedial or 

penal measures in the case of lapses in whole genome sequence data security, 

such as breaches due to the loss of portable data storage devices or hacking.

Absolute privacy, many observe, is not possible in this as in many other 

realms. The greater potential for harm is not by virtue of authorized others 

knowing about one’s whole genome make-up, but rather through the misuse of 

data that have been legally accessed.158 For example, a clinician with a celebrity client would have legally authorized access to their client’s whole genome 

sequence data for purposes of providing clinical care, but could not then sell 

that information to a tabloid. Researchers, clinicians, and others authorized to 

access whole genome sequence data should be guided by professional ethical 

standards so that they do not intentionally or inadvertently misuse these data. 

In the event that data are mishandled or lost, those responsible should be aware 

of federal and state policies that require specific remedial actions, such as the 

requirement under the Health Information Technology for Economic and 

Clinical Health Act Breach Notification Rule to report breaches to the Department of Health and Human Services within the required number of days.159

Those persons authorized to access whole genome sequence data should take 

part in regular training sessions to remain current on regulations governing 

whole genome sequence data privacy and security.

Public and private entities have different policies governing access to whole 

genome sequence databases by those seeking to use data for purposes other 

than that for which they were originally collected. Some policies create 

absolute prohibitions on releasing data to outside parties and associated 

penalties for violation, and some are more flexible, relying on the discretion of 

the person who holds the data.160 Certificates of Confidentiality, for example, 

permit but do not require investigators to refuse access to research data by law 

enforcement officials and others.161 The use of Certificates of Confidentiality 
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ANALYSIS AND RECOMMENDATIONS III

however, is limited; one study found that only 114 (0.04 percent) of 27,000 

funded studies secured such a certificate.162 Although empirical data on the use 

and effectiveness of these forms of privacy protection are not robust, scholars 

have questioned the strength of these protections, how well understood these 

protections are, and how they affect research participation.163

Besides researchers, parties who might be interested in accessing information 

already compiled in whole genome sequence databases and biorepositories 

include law enforcement officials and marketing agencies. While commercial 

advertising can be a valuable tool in educating at-risk populations, this 

technique is often viewed as invasive when used as a way to sell products, 

for example, to selectively market a statin to someone with a genomic 

predisposition to high cholesterol.164 In order to establish and maintain trust 

between members of the general public, clinicians, and the scientific research 

community, strong whole genome sequence data protections must be in place 

to secure data. Further, these limits on access must be communicated to those 

giving consent to have their whole genome sequenced in clinical, research, or 

consumer-initiated settings. 

Obtaining a whole genome sequence data file by itself yields information about, 

but does not definitively identify, a specific individual. The individual still has 

“practical obscurity,” as his or her identity is not readily ascertainable from the 

data. Practical obscurity means that simply because information is accessible, 

does not mean it is easily available or interpretable, and that those who want 

to find specific information must expend a lot of effort to do so. While some 

experts might be able to determine an individual’s hair color or specific cancer 

risk from whole genome sequence data (a file of 6 billion As, Cs, Gs, and Ts), 

these data are not interpretable by the vast majority of individuals. In addition, 

even if we know that a whole genome sequence is from one individual, we 

cannot know which of the over 7 billion people on Earth that person is without 

a key linking the whole genome sequence information with a single person or 

their close relative. Therefore, while whole genome sequence data are uniquely 

identifiable, they are not currently readily identifiable. 

Traditional identifiers have been stripped from samples or data in the clinical 

and research setting to mitigate the possibility of risks to the individual 

from whom the samples came. Removing traditional identifiers from 
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84

samples and data can allow for research on samples previously collected for 

different purposes, deter users from illegitimately identifying individuals, 

and minimize the risk that users might recognize individuals and use this 

information subconsciously in their daily life. 

Recommendation 2.2

Funders of whole genome sequencing research; managers of research, clinical, 

and commercial databases; and policy makers must outline to donors or 

suppliers of specimens acceptable access to and permissible use of identifiable 

whole genome sequence data. Accessible whole genome sequence data should 

be stripped of traditional identifiers whenever possible to inhibit recognition 

or re-identification. Only in exceptional circumstances should entities such as 

law enforcement or defense and security have access to biospecimens or whole 

genome sequence data for non health-related purposes without consent.

The consent process should communicate limits on access and use to those 

having their whole genome sequenced in clinical care, research, and consumerinitiated contexts. These policies should apply to the original recipient of the 

data, as well as to all parties who work with the data, from those who collect 

the sample or data to third-party storage and analysis service providers. 

An existing policy that could serve as a model is the Agency for Healthcare 

Research and Quality’s confidentiality statute.165 This statute was put in place 

to foster participation in research and provides a respected form of statutory 

protection for all identifiable data submitted to the Agency for Healthcare 

Research and Quality for research. The statute covers AHRQ, its grantees, 

and contractors. The statute also defines strict penalties for individuals who 

use these data for non-consented purposes.

Whole genome sequencing and related analyses generate enormous data sets. 

As of March 2012, the 1000 Genomes Project contained the sequence data 

of 1,700 people. The project database contained 200 terabytes of data, or the 

equivalent of 30,000 standard DVDs. This data set is a tremendous resource 

for biomedical researchers. At the same time, these data might not be useful 

to medical scientists and researchers without the computing power required 

to work with such a large data set. Exploring options for making these data 
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ANALYSIS AND RECOMMENDATIONS III

available to qualified researchers is critical so that innovation and research are 

not slowed simply because researchers’ computer networks cannot store these 

large data files.

“The explosion of biomedical 

data has already significantly 

advanced our understanding 

of health and disease. Now we 

want to find new and better ways 

to make the most of these data 

to speed discovery, innovation, 

and improvements in the nation’s 

health and economy.” 

NIH Director Francis S. Collins, M.D., 

Ph.D., in a press release announcing the 

movement of the 1000 Genomes Project 

data set to the Amazon Web Services 

cloud. Retrieved from http://www.nih.gov/

news/health/mar2012/nhgri-29.htm.

The question of how best to handle large 

data sets has gained attention throughout the 

government. The federal Office of Science 

and Technology Policy recently announced 

a “Big Data Research and Development 

Initiative,” with the goal of “improving our 

ability to extract knowledge and insights 

from large and complex collections of 

digital data.”166 Six federal departments 

and agencies are part of the initiative. This 

initiative includes NIH, which recently 

made its 1000 Genomes Project public data 

set available on the Amazon Web Services 

cloud. NIH now expects that researchers can 

access and analyze the data at a fraction of the cost it would take to establish the 

computing capacity at their own institution.167

Making whole genome sequence data accessible to researchers and clinicians 

is a promising step toward advancing medicine for the betterment of society. 

Moving data to third-party storage and analysis service providers, however, 

complicates the protection of individual data. When data are moved to third 

parties, an expanded range of data handlers and administrators have access to 

the data. Currently, a wide range of federal regulations govern the conduct of 

entities that handle protected health information.168

Recommendation 2.3

Relevant federal agencies should continue to invest in initiatives to ensure that 

third-party entrustment of whole genome sequence data, particularly when 

these data are interpreted to generate health-related information, complies 

with relevant regulatory schemes such as the Health Insurance Portability 

and Accountability Act and other data privacy and security requirements. 

Best practices for keeping data secure should be shared across the industry to 

create a solid foundation of knowledge upon which to maximize public trust.
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86

Whole genome sequence data not stripped of traditional identifiers are 

considered “protected health information” and are covered under the HIPAA 

Privacy, Security, and Enforcement Rules and the Common Rule. The 

same regulations, policies, and ethical guidelines that protect such health 

information should also be in place to govern the sharing of whole genome 

sequence data with third-party storage and analysis service providers (those 

otherwise not considered covered health entities under HIPAA). Entities 

within the public and private sectors have developed a range of practices for 

protecting privacy. For example, the National Institute of Standards and 

Technology, the Office of the National Coordinator for Health Information 

Technology, and the Office for Human Research Protections are developing 

policies concerning access to and use of data by third parties. The National 

Institute of Standards and Technology recently released guidance on “Security 

and Privacy in Public Cloud Computing” and the Office of the National 

Coordinator for Health Information Technology worked to strengthen 

protections of identifiable health information handled by third parties.169

Also, the Office for Human Research Protections issued guidance on research 

with coded private information or biological specimens.170 Parties from the 

public and the private sectors should share their lessons learned to promote 

efficiency and avoid duplicating efforts. Because of the expansive potential of 

information technology, special attention should be paid to those practices 

that leverage information technology to protect privacy. 

In order for the public to benefit as much as possible, best practices across 

the industry should be shared to ensure the privacy and security of whole 

genome sequence data and best gain the trust of those who have their whole 

genome sequenced in research, clinical, and consumer-initiated contexts. 

These best practices should include encrypting stored data and storing data 

without traditional identifiers when possible. Even when data are being 

accessed and used with informed consent, persons who access the data should 

be responsible and accountable for protecting the privacy of individuals and 

the confidentiality of the data. Respect for persons requires that these and 

other privacy protections do not become a competitive advantage for certain 

parties but rather serve, in both appearance and reality, as a reliable standard 

of individual protection.
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ANALYSIS AND RECOMMENDATIONS III

Consent

Although not unique to whole genome sequencing, a well-developed, 

understandable, informed consent process is essential to ethical clinical care 

and research. Conveying the complexities of whole genome sequencing to an 

individual, however, is likely more difficult than for the average diagnostic 

test. To make the issue more complex still, informed consent documents are 

often overly legalistic and written at a reading level beyond the capacity of 

the average research participant.171 Studies have demonstrated varying levels 

of comprehension of consent documents, including reports of persons signing 

consent forms who are later either unable to recall whether they signed a 

consent form or describe to what they had consented.172

“How does consent change 

when a person lacks genetic 

health literacy, [or] when the 

health condition does not yet 

exist, but is a future probability, 

and some of those may be 

non-treatable conditions? 

When a health condition does 

not have implications for you, 

but it does for your offspring, 

what are the terms of consent 

there, especially if your 

offspring have different views 

about what they want to know 

about genetics, and then lastly, 

for these incidental findings 

versus disease specific 

testing..? I’ll just leave you with 

those questions, as the first of 

many that you will engage.”

Daniel Masys, Affiliate Professor, 

Biomedical and Health Informatics, 

University of Washington School of 

Medicine. (2012). Ethics and Practice 

of Whole Genome Sequencing in 

the Clinic. Presentation to PCSBI, 

February 2, 2012. Retrieved from 

http://bioethics.gov/cms/node/658.

To educate participants thoroughly about the 

potential risks associated with whole genome 

sequencing, the consent process must include 

information about what whole genome 

sequencing is; how data will be analyzed, 

stored, and shared; the types of results the 

patient or participant can expect to receive, if 

relevant; and the likelihood that implications 

of some of these results might currently 

be unknown, but could be discovered in 

the future. As per usual consent protocol, 

permission to perform whole genome 

sequencing for a person who cannot consent 

for him or herself should be obtained from an 

informed, legally authorized representative.

Consent documents differ between research 

and clinical care. Research informed consent 

documents are often long and contain 

elements such as a summary of the research, 

future uses of data, the option to opt out, 

potential risks of participation, conditions of 

compensation in case of injury, and potential 

benefits to the individual. Clinical consent 
PRIVACY and PROGRESS in Whole Genome Sequencing

88

documents contain some of the same elements but generally are shorter than, 

and not as detailed as, research consent forms. In fact, oral consent might 

be sufficient for low-risk clinical procedures. The reason clinical consent 

is less comprehensive is because clinical procedures are done for the direct 

benefit of the patient and thus pose less of a risk of conflicting interests. 

More substantive clinical written consent is required, however, for higher-risk 

procedures, such as those expected to produce pain, require anesthesia, or 

have a significant risk of complications. 

In the research world, public opinion polls have found that individuals 

believe that being asked for consent throughout the course of research with 

their specimens or data would make them feel “respected and involved.”173

Informed consent involves an autonomous decision to participate in research 

that results from a communication process between researchers and prospective research participants that describes the research and explains the risks and 

benefits associated with enrolling in the study. Respect for persons dictates 

that individual consent should be well-informed and honored, regardless of a 

person’s specific privacy preferences. 

Clinical written consent documents for whole genome sequencing need not be 

as detailed as research consent documents, but these documents should still 

adequately explain whole genome sequencing and its potential impact upon 

privacy interests. A clinician should not frame whole genome sequencing 

as “just another type of blood test.” Consent procedures for clinical whole 

genome sequencing should build on those consent procedures already in place 

for discrete genetic tests. In the clinical context, as in research, individuals 

being asked to consent to whole genome sequencing should understand the 

volume of data and information to be generated, as well as the risks, benefits, 

and implications of the results of whole genome sequencing. 

The Common Rule states that data and specimens collected in the clinic, 

when stripped of traditional identifiers, can be used in research without 

consent. Because consent requirements differ in clinical and research settings, 

researchers could theoretically seek out data and specimens collected in the 

clinic to bypass the more involved research consent requirements. While it is 

acceptable to use clinical data and specimens in research, the Commission 

does not condone researchers circumventing Institutional Review Board 
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approval by seeking out clinical data and specimens for use in research when 

they could not otherwise obtain IRB approval. 

Whole genome sequencing involving minors raises additional ethical 

quandaries even when permission is properly obtained from an informed, 

legally authorized representative. First, federal privacy laws inconsistently 

define the age of consent—for the most part, the age of consent is 18 years 

old in the United States, yet in health care for certain contexts (e.g., mental 

health, contraception, or substance use), state laws allow consent by minors 

as young as age 14.174 Second, the potential future risks raised by the current 

unknowns of whole genome sequencing are compounded in children who will 

see advancement in the science during their lifetime. While the function of 

all genes is not currently known, researchers will continue to determine the 

function of more genes, and could feel compelled to re-contact these children, 

as adults, with results that they are not prepared to receive or do not want. 

Third, whole genome sequence data obtained from a minor already could 

have been widely shared before the minor reached an age at which they could 

determine preferred data sharing limits themselves, thereby decreasing their 

autonomy. Whole genome sequencing in children, therefore, raises a number 

of unique issues with regard to fully informed decision making.175

Some commentators are concerned that participants enrolled in research 

that requires especially large data sets, and who are given too much control 

over their data, will stifle the production of public benefits, such as improvements in clinical care, comparative effectiveness research, and epidemiological 

studies.176 If individuals can choose not to participate in certain types of 

studies, the amount of data available to clinicians and researchers upon which 

to base their conclusions will be limited to some extent.

A range of consent frameworks are available that offer participants varying 

levels of control over their data. Most of these frameworks fall into four 

categories: 1) broad; 2) narrow; 3) tiered; and 4) participant-centric or 

dynamic approaches. Under broad consent, individuals are given the option 

to opt in or opt out of general, and often yet to be determined, future uses of 

their data. Narrow consent usually states that data will be used only by the 

research team carrying out a specific study or for a specific treatment in the 

clinic. Tiered consent processes allow individuals to specify acceptable and 
PRIVACY and PROGRESS in Whole Genome Sequencing

90

unacceptable uses of their sample and data at 

the outset of research. “We also, as a research 

community, need to get 

used to the fact that there 

are patient-driven research 

objectives now and [patients] 

are coming together to 

do [research].”

Laura Lyman Rodriguez, Director, 

Office of Policy, Communications, and 

Education, National Human Genome 

Research Institute. (2012). Protection 

of Private and Public Genomic 

Databases. Presentation to PCSBI, 

August 1, 2012. Retrieved from http://

bioethics.gov/cms/node/749.

Other consent models use computer-based 

participant-centered consent processes, which 

generally give participants freedom to determine their specific data sharing preferences 

up front, with some allowing participants to 

monitor and modify their preferences on an 

ongoing basis through a computer interface.177

One prototype that has been implemented by 

a group called Consent to Research allows 

users to “attach” consent to the data they 

donate, and any researcher who can accommodate the provisions of that 

consent can use those data.178 Alternatively, as databases become more technologically flexible, those donating biospecimens can express preferences at 

the outset about permissible and impermissible uses that can be respected by 

future users of whole genome sequence data. Further, sample donors could 

electronically update their consent to encompass proposed new studies, with 

minimal hassle to the donor or the researcher. These models, however, can 

only be used by participants who have computer and internet access.

Some data have been collected on participant views of consent forms for 

biorepository research. Biorepository specimens and data files can be collected 

in clinical or research settings, and include (among other things) medical 

waste, newborn blood spot cards, and biopsy specimens. In one pair of studies, 

when asked about an opt out consent process, over 90 percent of participants 

agreed or strongly agreed that “DNA biobank research is fine as long as people 

can choose not to have their DNA included.”179 Another study found that, 

despite privacy concerns, 60 percent of individuals surveyed would participate 

in a genetic biorepository, 48 percent of whom would prefer broad consent, 

while 42 percent would prefer project-specific consent with re-consent for 

each project.180 These studies indicate that the majority of individuals enrolled 

in research are willing to share their data when asked, and the limited data 

available suggest that individuals vary widely across this spectrum of preferred 

form of consent.181 More research is needed, however, including on minority 

and marginalized populations where research participation is not as high.
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ANALYSIS AND RECOMMENDATIONS III

The Common Rule, which governs most human research in the United 

States, requires that research consent be informed. Consent may be waived 

in some circumstances, and research with samples or data that are not readily 

identifiable is not considered human research (and thus does not fall under 

the Common Rule). Blanket authorization for all future uses of identifiable 

data, known and unknown, at the outset of a research study cannot legally 

satisfy the current requirements for informed research consent. However, 

the Common Rule Advanced Notice of Proposed Rulemaking (ANPRM) 

proposes a broad consent requirement that would give participants the 

opportunity to say “yes” or “no” to all future research uses of their data 

and specimens at the outset of research.182 The ANPRM also proposes that 

individuals could designate special categories of research in which they would 

not want their samples included, for example, reproductive research. By 

giving individuals the option to not participate in research to which they 

object, these individuals are respected as persons. Moreover, the option 

to not participate in a set of specific categories of research that one finds 

objectionable might actually encourage broader participation in research.

Broad consent at the outset of research might be a more practical solution 

than re-consent, or obtaining informed consent from every donor for a 

new use. Re-consent is difficult or, in some cases, impossible, as individuals 

frequently change residences, clinicians, phone numbers, and email addresses. 

Researchers also maintain that obtaining consent for each future study is 

burdensome and could hinder research.183

Recommendation 3.1

Researchers and clinicians should evaluate and adopt robust and workable 

consent processes that allow research participants, patients, and others to 

understand who has access to their whole genome sequences and other data 

generated in the course of research, clinical, or commercial sequencing, and 

to know how these data might be used in the future. Consent processes 

should ascertain participant or patient preferences at the time the samples 

are obtained.

Respect for persons requires obtaining fully informed consent at the outset of 

treatment or research. The informed consent process should cover the current 

proposed use of individuals’ data, convey who might have access to their data, 
PRIVACY and PROGRESS in Whole Genome Sequencing

92

and explain potential future uses of these data, as well as what research results 

and incidental findings, if any, will be returned to the patients or participants. 

Some patients might be surprised to discover that their whole genome 

sequence data obtained in the clinic could be used for research in the future 

without additional consent. With the blurring of the line between clinical 

care and research, data may be shared back and forth to improve clinical 

diagnosis and treatment.184 Patients in the clinic should thus be explicitly 

informed that their whole genome sequence data could be used in research. 

When possible, individuals should be given the option to withhold their data 

from certain types of future research to avoid inadvertent complicity with 

research goals to which they are opposed. The Commission acknowledges 

the complexity of integrating individual options into the research enterprise, 

but if a framework is in place that accommodates identifying specific participant preferences at the time of enrolling in research, such as proposed in the 

ANPRM, these preferences should be honored.185

As long as consent processes are equivalently effective in informing individuals 

about what they are consenting to, and as long as they do not unduly shape 

or undermine individuals’ ability to make genuinely voluntary choices, there 

is no philosophical or ethical imperative to use one kind of consent process 

over another. In cases where the public stands to benefit from an activity and 

the research consent is fully informed and consistent with the ability to make 

autonomous choices, it might be advantageous to use consent processes that 

make it easier for individuals to participate—but most definitely not “trick” 

them into participating—at higher rates. In other words, the most important 

issue in consent is not the type, but rather that the consent is properly informed 

and consistent with voluntary choice.

Opt in consent policies assume that the default is not to go forward with some 

proposal, such as to consent to whole genome sequencing; the individual must 

actively consent to the proposal in order for anything to happen. Opt out 

consent means that, in the absence of a refusal, the default is participation, 

which tends to encourage higher rates of participation, a result particularly 

supportive of the public value of scientific and medical research that is otherwise ethically and legally sound. 
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ANALYSIS AND RECOMMENDATIONS III

Organ donation policies in Europe 

provide an example of opt out consent 

procedures. Austria, France, Hungary, 

Poland, and Portugal have opt out 

organ donation polices and all have 

organ donation consent rates above 

99 percent.186 The United States, on 

the other hand, uses an opt in system. 

Polls show that about 90 percent of 

Americans support organ donation, 

but only about 44 percent of people 

in the United States opt in to be organ 

donors.187 This indicates that where 

Americans’ values dispose them in favor 

of consent to organ donation, the often 

cumbersome and anxiety-inducing 

procedures of an opt in policy make 

them reconsider, passively resist, or fail 

to follow through with the extra steps 

(like filling out extra forms) required to 

opt in.188

BioVU: 

AN OPT OUT DATABASE

Vanderbilt’s BioVU database, which 

has collected DNA samples from 

almost 150,000 individuals, is an opt 

out database. Unless patients check 

a box indicating that they do not want 

their DNA in the BioVU database, their 

samples are included. In this way, 

BioVU is able economically to collect 

a large number of samples. To protect 

the data in its database, the samples 

are coded before being entered in 

the database. The computer system 

can match the DNA with information 

in medical records, but researchers 

working with the data do not know 

to whom the data belong. Data are 

stripped of identifiers before being 

shared with secondary researchers.

Vanderbilt University Medical Center. (2012). 

Vanderbilt BioVU. Retrieved from http://www.

vanderbilthealth.com/main/25443. 

With some exceptions, federally funded research studies are required by law 

to obtain informed consent from all individuals enrolled in research or from 

their legally authorized representative.189 The informed consent document is 

one component of the informed consent process. Current federal regulation 

requires that informed consent documents include, among other things, a 

description of the procedures in the research plan, an explanation of the 

risks and benefits to the participant, a description of the extent to which 

confidentiality of records will be maintained, and an explanation of the right 

to withdraw from the study.

By regulation, research participants can withdraw from research to which they 

consented at any time for any reason. However, complete destruction of whole 

genome sequence data is likely impossible. Although physical biospecimens 
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94

and data files stored by the primary researchers can and will be destroyed 

at the time of withdrawal according to guidelines laid out in consent documents, the destruction of distributed copies of associated data files may not 

be feasible as distributed genome sequence data files can be stored on local 

computers or network servers. Therefore, those conducting whole genome 

sequencing research might not be able to promise complete withdrawal from 

a study.

Recommendation 3.2

The federal Office for Human Research Protections or a designated central 

organizing federal agency should establish clear and consistent guidelines for 

informed consent forms for research conducted by those under the purview of 

the Common Rule that involves whole genome sequencing. Informed consent 

forms should: 1) briefly describe whole genome sequencing and analysis; 2) 

state how the data will be used in the present study, and state, to the extent 

feasible, how the data might be used in the future; 3) explain the extent to 

which the individual will have control over future data use; 4) define benefits, 

potential risks, and state that there might be unknown future risks; and 5) 

state what data and information, if any, might be returned to the individual.

Each government agency has its own enforcement authorities to protect 

research participants. For example, the Office for Human Research 

Protections has jurisdiction over human research conducted or supported by 

HHS, the Central Intelligence Agency has a Human Subject Research Panel, 

and the Department of Veterans Affairs uses a combination of Research 

Compliance Officers and its Office of Research Oversight. All these agencies 

should work together as each agency develops clear and consistent guidelines 

for their informed consent forms, enabling an individual to make a fully 

informed decision to participate in research. 

Looking forward, clinical consent documents for whole genome sequencing 

will have to address a number of issues specific to whole genome sequencing: 

an explanation of the science, what types of results will be produced through 

whole genome sequencing, and whether whole genome sequence data collected 

for clinical applications will be made available for research purposes.

Further, whole genome sequence data can provide information about many 

conditions, not just the condition under study. Acknowledging this, informed 
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ANALYSIS AND RECOMMENDATIONS III

consent documents for studies involving whole genome sequencing should 

include which (if any) research results and incidental findings will be returned 

to individuals.190

“Now, on the other side of the 

ledger...are the findings...

which the patient is not 

expecting...which are going 

to have a dramatic impact of 

known consequence to them, 

and then the set of things 

for which there is much less 

certain impact.”

Richard Gibbs, Wofford Cain Professor, 

Department of Molecular and Human 

Genetics; Director, Human Genome 

Sequencing Center, Baylor College of 

Medicine. (2012). Ethics and Practice 

of Whole Genome Sequencing in 

the Clinic. Presentation to PCSBI, 

February 2, 2012. Retrieved from 

http://bioethics.gov/cms/node/658.

In whole genome sequencing, many individuals might want, and even expect, access 

to data or results.191 From the perspective of 

many individuals, the inability to receive or 

access their data denies them a fundamentally 

important sense of control over information 

about their own genomic makeup. While 

some individuals wish to share their data 

broadly for the advancement of science, others 

want control over their data to maintain their 

privacy, control information shared with intimate relations, or protect their right not to 

know results that might be discovered during 

whole genome sequencing. Individuals who 

seek return of data or results often feel that 

if someone else knows something unique about them, such as their risk for a 

particular disease, they ought to know it as well.192 On the other hand, some 

experts have said that although participant or patient preferences should be 

considered in the return of results, individual preferences are not a sufficient 

reason for agreeing to return results because of the importance of ensuring 

that the results are accurately communicated to individuals. These experts 

argue that the decision of whether to return incidental findings and other 

data should be in the hands of those who can more fully understand the broad 

implications of returning those findings, and what needs to accompany the 

return of raw results. They call for criteria to be developed, for example, by 

return of results committees.193

There are, of course, reasons within our current research systems for not 

returning research results to individuals enrolled in research studies as well. 

First, by current law, only sequencing results from Clinical Laboratory 

Improvement Amendments (CLIA) compliant laboratories may be returned 

to individuals.194 This requirement came about in the 1980s as a result of 
PRIVACY and PROGRESS in Whole Genome Sequencing

96

stories in the media that raised concerns about the quality of laboratory 

results, especially the return of false-negative Pap smear results.195 This 

attention catalyzed the passage of CLIA in 1988, designed to improve quality 

and consistency in clinical laboratory testing. CLIA made it illegal to return 

to patients clinical results generated in a non-CLIA-certified laboratory.196

Currently, most research is not conducted in CLIA-certified laboratories, 

including those laboratories performing whole genome sequencing.197 In 

addition, researchers leading projects that are producing whole genome 

sequence data might not be qualified or trained to return sensitive, 

potentially devastating results directly to individuals, nor are grants usually 

structured to hire someone with the appropriate qualifications to do so. 

Ethical analysis of whether and how individual research results and incidental 

findings should be returned is ongoing, and these questions are currently the 

subject of wide-ranging debate.198 Many agree that participants should have 

the option to opt out of receiving research results and data from a study. There 

is less consensus on what should be done in cases where individuals want 

to receive incidental research results and data but, for example, researchers 

or clinicians did not themselves collect the information, are not trained in 

interpreting incidental results, did not perform the sequencing in a CLIAapproved lab, or have no prior knowledge of or relationship to the individual 

to appropriately convey the results. Alternatively, in some cases, investigators 

might feel personally obligated to provide research results that could be 

clinically meaningful.199

One example that illustrates this dilemma is the Alzheimer’s risk associated 

with certain variants of the ApoE gene. Individuals who carry the ApoE4 

variant have a higher risk of developing Alzheimer’s disease, but not everyone 

with this variant will develop Alzheimer’s disease. Suppose that whole genome 

sequencing is being performed on a young adult for a breast cancer research 

study he or she is involved in, and the ApoE4 variant is discovered. Should 

this finding be returned? The finding is not clinically actionable—meaning 

that there is not an effective treatment or cure—and it is not certain that 

individuals with the ApoE4 variant will develop Alzheimer’s disease. Some 

argue that the only acceptable reason to return an incidental finding is that 

the finding is clinically relevant and actionable, and the ApoE4 variant’s 

association with Alzheimer’s disease fails to cleanly meet these criteria.200
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ANALYSIS AND RECOMMENDATIONS III

Others argue that it should be completely up to the individual whose whole 

genome is sequenced to make this decision.201

A number of frameworks for return of research results and incidental findings have recently been proposed by broadly constituted groups. A recent 

consensus paper authored by academic researchers, legal scholars, and patient 

advocates determined that researchers should offer to return individual 

research results that 1) are analytically valid; 2) are in compliance with CLIA; 

3) the patient has consented to receiving; 4) are clinically actionable; and 5) 

present an “established and substantial risk of a serious health condition.”202

Another framework proposes grouping incidental findings into three “bins” 

including: “clinically actionable,” “clinically valid but not directly actionable,” (subdivided into low-, medium-, or high-risk incidental information 

groups), and “unknown or no clinical significance.”203 The bin into which 

the data fall in this model, in combination with other variants, determines if 

the result should be reported to the participant in a clinical context.Models 

also exist that are more finely tuned and consider multiple variables, such as 

participant preference (what results the participant does and does not want to 

know), significance of the result (analytic validity of the test and possibility 

for medical intervention), and communicability (literacy of the participant 

and clarity of the message).204

In contrast to these fine-tuned, multivariable return of results frameworks, 

many representatives of the patient advocacy community propose the wholesale 

return of whole genome sequence data to individuals. They argue that although 

universities or companies provide a service by performing whole genome 

sequencing, the individuals who supplied the samples should retain the right 

to control the use of the data, access to the data, and be able to share the data 

with whomever they choose (such as with researchers conducting other studies 

related to conditions affecting the individuals or the individuals’ families).205

There is a difference however between the return of “data” and “information” 

in the context of whole genome sequencing. Some have suggested that 

regardless of whether meaningful information (that is, analyzed data 

interpreted by experts) is made available, raw data might be valuable to 

individuals. Currently, the Food and Drug Administration is debating the 

classification of these data in the context of commercial genetic testing. 
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If companies are returning results with clinical or medical significance, 

commercial genetic services might be subject to regulatory requirements; but 

if they are simply returning unanalyzed whole genome sequence data files, 

regulatory requirements might not apply.206 For example, the commercial 

genetic test company Lumigenix does not interpret medically relevant genetic 

variants in-house. Rather, it provides customers with raw whole genome 

sequence data, inviting the consumer to use free genome analysis software to 

discover and interpret clinically relevant information on their own.207

This is a mere sampling of the many complex and detailed issues that 

need to be addressed before reaching a comprehensive set of actionable 

recommendations about whether and when incidental findings from whole 

genome sequencing can and should be returned to individuals with their fully 

informed consent.

Recommendation 3.3

Researchers, clinicians, and commercial whole genome sequencing entities 

must make individuals aware that incidental findings are likely to be 

discovered in the course of whole genome sequencing. The consent process 

should convey whether these findings will be communicated, the scope of 

communicated findings, and to whom the findings will be communicated.

Recommendation 3.4

Funders of whole genome sequencing research should support studies to 

evaluate proposed frameworks for offering return of incidental findings 

and other research results derived from whole genome sequencing. Funders 

should also support research to investigate the related preferences and 

expectations of the individuals contributing samples and data to genomic 

research and undergoing whole genome sequencing in clinical care, research, 

or commercial contexts.

Individuals undergoing whole genome sequencing in research, clinical, 

and commercial contexts must be provided with sufficient information in 

informed consent documents to understand what incidental findings are, 

and to know whether they will be notified of incidental findings discovered 

as a result of whole genome sequencing.208 Users of whole genome sequence 

data should continue supporting research into the management of incidental 
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ANALYSIS AND RECOMMENDATIONS III

findings and individual research results obtained in both CLIA and nonCLIA-certified laboratories. 

Previous research has generated many models and guidelines for returning 

incidental findings and other results obtained in clinical and basic research. 

In order to take the next step of translating these models into best practices 

for the return of results, additional data must be collected to inform 

the deliberations. In particular, research should be expanded to collect 

empirical data on participant, patient, researcher, and clinician opinions of 

each model, and the consequences and costs of implementing each model. 

These studies should examine the motivations of patients and participants 

enrolled in research, undergoing genome sequencing in the clinical context, 

or engaging in commercial whole genome sequencing to obtain their research 

results. Respect for patient and participant values is essential to guide the 

development of these tools ethically.

Facilitating Progress in Whole Genome Sequencing

Current protections for research participants emerged from a series of lapses 

in research ethics uncovered in the 1960s and 1970s in which clinicians and 

scientists conducted research without the fully informed consent or even 

knowledge of the research participants.209 One outcome of this history was 

the drawing of a bright line between clinical care and research. But this 

distinction is no longer so clear. Currently, large amounts of patient data are 

being collected in the health care setting, stripped of traditional identifiers, 

analyzed, and fed into research that might one day improve clinical care. 

This learning health system model both translates advances in health services 

research into clinical applications and collects data during clinical care to 

facilitate further advances in research.210 With patient data increasingly being 

transitioned to electronic medical records, persons engaged in this type of 

research can also more easily access data to aggregate and analyze.211

Advocates of the learning health system model advocate encouraging 

intellectual freedom through clinical research and engaging in regulatory 

parsimony.212 Large amounts of data are essential for researchers to make 

correlations between genomic variants and disease states. Learning health 

system advocates and others call for standardized electronic health record 
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systems and infrastructure to facilitate health information exchange so that 

data can be easily aggregated and studied.213 Integrating whole genome 

sequence data into health records within the learning health system model 

can provide researchers with more data to perform genome-wide analyses, 

which in turn can advance clinical care. Several Institute of Medicine (IOM) 

working groups have supported these goals, outlining the desirability of 

establishing a universal health information technology system and learning 

environment that engages health care providers and patients. The IOM 

reports recommend that such a system include both genomic and clinical 

information, increased interoperability of medical records systems, and 

reduced barriers to data sharing.214 The President’s Council of Advisors 

on Science and Technology identified the lack of sharing electronic health 

records—with patients, with a patient’s health care providers at other 

organizations, with public health agencies, and with researchers—as a barrier 

to improved health care.215

Recommendation 4.1

Funders of whole genome sequencing research, relevant clinical entities, 

and the commercial sector should facilitate explicit exchange of information 

between genomic researchers and clinicians, while maintaining robust data 

protection safeguards, so that whole genome sequence and health data can be 

shared to advance genomic medicine.

Performing all whole genome sequencing in CLIA-approved laboratories 

would remove one of the barriers to data sharing. It would help ensure that 

whole genome sequencing generates high-quality data that clinicians and 

researchers can use to draw clinically relevant conclusions. It would also 

ensure that individuals who obtain their whole genome sequence data could 

share them more confidently in patient-driven research initiatives, producing 

more meaningful data. That said, current sequencing technologies and those 

in development are diverse and evolving, and standardization is a substantial 

challenge. Ongoing efforts, such as those by the Standardization of Clinical 

Testing working group are critical to achieving standards for ensuring the 

reliability of whole genome sequencing results, and facilitating the exchange 

and use of these data.216
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ANALYSIS AND RECOMMENDATIONS III

In order for all persons to benefit from whole genome sequencing research, 

diverse populations must be involved in research. Consequently, it is incumbent 

upon the research community to earn and maintain the trust of individuals 

from a wide range of diverse populations across society. This trust is particularly 

important in minority and marginalized populations where levels of trust in the 

medical and research communities have been historically low.

To encourage such trust, some scholars and advocates have proposed 

alternative models for the interactions between researchers and individuals 

enrolled in research that attempt to increase transparency and shift the 

balance of control between these two parties.217 As opposed to the traditional 

research model, in which there is usually little contact between the researcher 

and the individual enrolled in research beyond initial sample contribution, 

participant-centric initiatives put research participants at the center of the 

decision making, and are based on principles of respect and empowerment.218

The federal government has shown an interest in giving patients a 

better understanding of disease, treatment, and care options through its 

establishment of the Patient-Centered Outcomes Research Institute.219

The challenges we face today in whole genome sequencing are not (or only 

partially overlap with) the challenges we will face in the coming years as 

technologies continue to develop and mature. For example, one current 

concern is the integration of data into electronic medical records; in 20 years 

or less, society might have to decide if every newborn should have their whole 

genome sequenced and added to their electronic medical record. Due to 

rapid technological developments, today’s policies must be crafted specifically 

enough to be actionable and targeted to address our current concerns, yet agile 

enough to ensure that we do not constrain our ability to adapt to evolving 

technology, research, and social norms related to privacy and sharing.220

Recommendation 4.2

Policy makers should promote opportunities for the public to benefit from 

whole genome sequencing research. Further, policy makers and the research 

community should promote opportunities for the exploration of alternative 

models of the relationship between researchers and research participants, 

including participatory models that promote collaborative relationships.
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Respect for persons implies not only respecting individual privacy, but also 

respecting research participants as autonomous persons who might choose 

to share their own data. Public beneficence is advanced by giving researchers 

access to plentiful data from which they can work to advance health care. 

Regulatory parsimony recommends only as much oversight as is truly 

necessary and effective in ensuring an adequate degree of privacy, justice and 

fairness, and security and safety while pursuing the public benefits of whole 

genome sequencing. 

Therefore, existing privacy protections and those being contemplated should 

be parsimonious and not impose high barriers to data sharing.221 While the 

Commission supports the intellectual freedom this access will encourage, 

clinicians and researchers must also act responsibly to earn public trust for 

the research enterprise.

Public Benefit

The federal government has made a substantial investment in genetics 

research, including whole genome sequencing, and the benefit of this 

investment has been realized in two major ways. First, disease diagnosis and 

treatment have been advanced, and the functions of many genes have been 

and will continue to be discovered, which will further improve clinical care 

in the coming years. Incorporating knowledge gained through advances 

in whole genome sequencing into the clinic could improve diagnosis and 

treatment of diseases that have brought turmoil and tragedy into the lives 

of individuals and their families. We have already begun to see some 

benefits resulting from these advances; for example, genetic variants that 

can lead to adverse drug reactions have been identified. In the future, as the 

genetic variations that underlie common diseases are discovered, clinicians 

will, in some instances, be able to detect predispositions to disease before 

those diseases occur, and begin treatment or recommend lifestyle changes 

before a patient exhibits symptoms. Second, an indirect economic benefit 

has been realized. The U.S. government invested $3.8 billion in the Human 

Genome Project; it is estimated that this investment generated $244 billion 

in personal income and $796 billion in overall economic impact.222 These 
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ANALYSIS AND RECOMMENDATIONS III

health and economic gains not only benefit the public through improved 

health care but also through increased economic opportunities. 

Thousands of citizens have participated in whole genome sequencing research 

personally, and all citizens help support government investment in whole 

genome sequencing through their participation in and support of our political 

system. Therefore, all citizens should have the opportunity to benefit from 

medical advances that result from whole genome sequencing. 

Special caution should be taken on the part of researchers to ensure that their 

participants reflect as much as possible the rich diversity of our population. 

Different groups have genomic variants at different frequencies within their 

populations, and sufficiently diverse data must be collected so that advances 

arising from whole genome sequencing can be used for the benefit of all groups.223

Recommendation 5

The Commission encourages the federal government to facilitate access 

to the numerous scientific advances generated through its investments 

in whole genome sequencing to the broadest group of persons possible to 

ensure that all persons who could benefit from these developments have the 

opportunity to do so.

Government investment in genomic research has resulted in public benefit 

through improved health care and in economic return on investment. The 

principle of justice and fairness requires that the benefits and risks of whole 

genome sequencing be distributed across society. Research funded with 

taxpayer contributions should benefit all members of society. To these ends, 

researchers should be vigilant about including individuals from all sectors of 

society in their studies, so that research findings can be translated widely into 

clinical care. The federal government should follow through on its investment 

in research and assure that the discoveries of whole genome sequencing are 

integrated with clinical care that can be accessed by all. 
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105

APPENDICES
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Appendix I: Glossary of Key Terms 

Allele: a form of a gene at a particular location on a chromosome. 

Biorepository: a stored collection of physical biological samples (e.g., blood or 

tissue) and associated data (e.g., medical information and policies). Sometimes 

called a biobank.

Carrier: an individual who has one normal and one mutated version of a gene.

Chromosome: X-shaped structure made of tightly wrapped DNA in the 

nucleus of the cell that carries genes from one generation to the next. Humans 

have 46 chromosomes (in 23 pairs).

Clinical utility: an assessment of the risks and benefits associated with a 

clinical test and the likelihood that the test will result in improved patient 

outcome.

Clinical validity: the degree to which a genetic test can predict clinical status, 

as measured by the strength of the association between the genotype and 

phenotype.

Copy number variations (CNVs): DNA mutations that occur when large 

sections of DNA are inserted or deleted during cell division.

Database: an organized collection of data or information (e.g., whole genome 

sequence data files and information).

Deoxyribonucleic acid (DNA): the molecule that contains the instructions to 

develop and direct the biological and chemical activities of a living organism.

DNA Sequencing: the process that identifies the order of the nucleotide bases 

in a strand of DNA.

Exome Sequencing: DNA sequencing of only the parts of the genome that 

make proteins (exons).

Exon: a stretch of DNA, part of a gene, that codes for a protein.

Gene: a piece of DNA that contains the information required for making a 

product that will have a biological function. A full set of genes is called a genome.
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APPENDICES IV

Gene-environment interaction: the environmental factors that can influence 

a gene’s expression and the resulting phenotype.

Genetic test: a discrete test that examines a specific genetic location or a single 

gene, such as the test for Huntington’s disease.

Genetic variation: differences in alleles of allele frequency between or among 

individuals or populations. 

Genomics: the study of all the DNA (the genome) in an individual, and how 

parts of the genome interact with each other and the environment.

Genome: the full set of genes in an individual. Humans have about 20,000 to 

25,000 genes in their genome.

Genome-wide association study (GWAS): compares large amounts of genetic 

data from individuals with and without a specific condition to identify DNA 

variants that correlate with diseases. 

Genotype: the genetic make-up of an individual.

Genotype/phenotype correlation: the association between a certain mutation 

(genotype) and the resulting physical characteristic (phenotype).

Genotyping: analyzing discrete variants, from a handful to thousands, across 

the genome (i.e., more than a discrete genetic test, but less than whole genome 

sequencing).

Guthrie Card: piece of paper used to capture and store a few drops of blood 

collected from a newborn. DNA from the dried blood spot is then used to test 

for a range of genetic conditions and infections.

Heterozygous: when the genes or alleles on the two chromosomes are 

different.

Homozygous: when the genes or alleles on each of the two chromosomes are 

the same.

Incidental finding: a finding discovered in the course of clinical care or 

research concerning a participant that is beyond the aims of the clinical test 

or research but has potential health importance.
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Individual research result: a finding discovered in the course of clinical care 

or research concerning a research participant that relates to the aims of the 

clinical test or research and has potential health importance.

Intron: part of a gene present between exons that does not directly code for 

a protein. 

Locus: the location of a gene on a chromosome.

Mutation: a change in the DNA sequence. Mutations can arise from mistakes 

during cell division or from an outside source (e.g., radiation from the sun).

Nucleotide bases: the four chemical units that compose DNA. The bases are 

adenine (A), thymine (T), guanine (G), and cytosine (C). A always pairs with 

T on the opposite strand of DNA, and C always pairs with G. One A-T or 

G-C pair is called a base pair. 

Phenotype: the expression of an individual’s genotype. An individual’s phenotype consists of their physical characteristics. 

Public health utility: the likelihood that a clinical test will reduce disease 

burden and/or result in improved patient outcome in the population. 

Single nucleotide polymorphisms (or SNPs): variations in the genome that 

involve single base pairs.

Structural variants: the insertion, deletion, duplication, translocation (the 

movement of DNA from one location to another on the same or another chromosome), or inversion (flipping over) of long DNA segments (greater than 

about 1,000 base pairs in length). 

Whole genome sequence data: the file of As, Cs, Gs, and Ts produced as a 

result of whole genome sequencing.

Whole genome sequence information: facts derived from whole genome 

sequencing data, such as predisposition to disease.

Whole genome sequencing: determining the order of nucleotide bases—

As, Cs, Gs, and Ts—in an organism’s entire DNA sequence.
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APPENDICES IV

Appendix II: Genetic and Genomic Background Information

Understanding Basic Genetic Architecture

Deoxyribonucleic acid (DNA) is the molecule that contains the instructions to 

develop and direct the biological and chemical activities of nearly all living 

organisms. DNA is a twisting pair of strands, 

called a double helix, made of four basic 

building blocks, or nucleotide bases. These bases 

are abbreviated A, T, C, and G. The As, Cs, 

Gs, and Ts are linked together in long strands. 

The A on one strand will link to at T on the 

other strand of the double helix, bringing the 

two strands together at each point along the 

DNA strand, like rungs on a ladder. A always 

binds with T, and C always binds to G. One 

A-T or G-C pair is called a nucleotide base 

pair. If the DNA in a single human cell was 

stretched out, it would be about six feet long. 

If all the DNA in a human body was stretched 

out, it would reach almost 70 times from the 

earth to the sun and back.224 In order to fit 

this much DNA into cells, the long strands of 

DNA have to be stored compactly. In the cell, 

DNA is nearly always wrapped tightly into X-shaped structures called chromosomes, which prevent the long strands of DNA from tangling or being damaged. 

Chromosomes pass DNA from one generation to the next. 

MENDELIAN GENETICS 

Gregor Mendel, a 19th 

Century European monk, 

discovered the mechanism 

for trait inheritance in plants 

and animals. Mendel studied 

traits in peas, including 

flower color, stem length, 

seed shape, and seed color. 

Through selective pollination, 

he was able to observe how 

traits were expressed when 

two plants produced seed. 

He found that organisms 

have two copies of every 

inheritance “unit” (now called 

genes): one from each parent. 

Chromosomes are located in the nucleus of a cell (a sub-compartment of the cell 

that stores DNA). Chromosomes are usually found in pairs, with one member 

of each pair coming from the individual’s genetic mother and the other from 

the genetic father (See Figure 3). Humans have 46 chromosomes, in 23 pairs. 

Of the 46 chromosomes, two are sex chromosomes (X and Y) that determine if 

an individual is male or female. In addition to the 22 pairs of chromosomes that 

all humans have, females inherit one X chromosome from each parent, making 

their 23rd pair XX, while a male inherits an X chromosome from his mother 

and a Y chromosome from his father, making his 23rd pair XY.
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Figure 3: The 23 Pairs of Human Chromosomes 

1 2 3 4 5 6

7 8 9 11 12

13 14 15 16 17 18

19 20 21 22 or

XX

(Female)

XY

(Male)

10

Humans have 23 pairs of chromosomes

(46 total chromosomes in the nucleus).

One member of each pair comes from 

the individual’s genetic mother and the 

other from his/her genetic father.

A complete set of DNA, or a full set of 46 chromosomes in a human, is called 

his or her genome. In humans, the genome is made up of approximately 3 

billion nucleotide base pairs (A-T and G-C pairs). Nearly every cell in the 

human body contains a complete copy of the genome. 
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APPENDICES IV

WHY IT IS GOOD TO HAVE TWO COPIES OF EACH CHROMOSOME

Having two copies of each gene ensures that if one gene on one chromosome of a pair is 

damaged, the gene on the other chromosome of the pair might not be damaged. In most 

cases, having only one functional copy of a gene is sufficient for normal function. This could 

be compared to having two kidneys: if one kidney is damaged, the healthy one can function 

well enough so that the individual can lead a relatively normal life. 

Genes are specific regions of DNA on chromosomes. Genes are the basic physical unit of inheritance, and are passed from parents to their children. There 

are approximately 20,000-25,000 genes distributed over the 46 chromosomes. 

Together, these genes make up the blueprint for the body and how it functions. 

The location of a gene on a chromosome is called the locus, which is much like 

an address. For example, a gene can be found on chromosome 16 (e.g., the 

name of the street), on a particular end of the chromosome (e.g., the North or 

South end of a street), at a particular location (e.g., the house number).

Almost all genes come in pairs with one copy (or allele) from each parent. While 

the alleles might or might not be identical, the genes are the same (just like we all 

have ears, but our ears do not all look exactly alike). Every person has the same 

number of genes, although they might have different alleles from one another; 

that is, every person has the genes for cystic fibrosis (CFTR) and breast cancer 

(BRCA1/2), but most of us do not have disease-causing mutations in these genes. 

In order to go from the blueprint in the genes to a functioning human, information in DNA is turned into proteins. Genes contain the instructions for 

making proteins that make up the human body. Examples of proteins include 

collagen, which is a major component of our hair and skin; and enzymes, a 

GENE-ENVIRONMENT INTERACTIONS

Cystic Fibrosis is a recessive genetic disorder, which means that a child must inherit 

a mutated copy of the CFTR gene from each parent to have the disease. While the 

genetic cause is clear, the severity of disease is linked to environmental factors such as 

exposure to second hand smoke, stress, and poor nutrition. Smoke in particular has been 

shown to interact with the CFTR gene and a secondary gene as well, worsening lung 

function in the patient.

Source: Collaco, J.M., et al. (2008). Interactions between secondhand smoke and genes that affect cystic fibrosis 

lung disease. Journal of the American Medical Association, 299(4), 417-424.
PRIVACY and PROGRESS in Whole Genome Sequencing

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special type of protein, some of which break down the food we eat. If the 

DNA coding for a protein is mutated, it could result in that protein not functioning. For example, if the enzyme that breaks down lactose (a protein found 

in milk) is not assembled properly, it cannot break down lactose effectively 

and an individual is said to be lactose intolerant. 

Not every single part of our DNA contains the instructions for making a protein, 

only certain parts of genes make proteins. These regions are called exons. The 

function of the regions of DNA that do not code for proteins, called introns, is 

unknown. Introns were once called “junk” DNA, but scientists are learning that 

introns are likely essential for the rest of the gene to function properly. 

The term genotype refers to an individual’s collection of genes or to the two 

alleles inherited for a particular gene. The expression of the genotype, through 

making proteins, contributes to the individual’s outward characteristics, called 

their phenotype. The association between a certain mutation or mutations 

(genotype) and the resulting physical characteristics (phenotype) is called the 

genotype/phenotype correlation. This association is at the core of genetic testing 

and research.

Gene-environment interaction refers to how environmental factors modify the 

expression of a gene and, therefore, the trait, or phenotype. Some phenotypic 

traits are strongly influenced by genes, while others are more strongly influenced by the environment. Most traits are influenced by one or more genes 

interacting in complex ways with the environment. 

Genetic Variation

A mutation is a change in a DNA sequence (see Figure 4). Mutations can come 

from mistakes that happen when DNA is copied during cell division, exposure 

to chemicals or harmful radiation (like UV rays from the sun), or infection with 

certain viruses. Some mutations occur in the cells of an individual’s body and are 

not passed on to offspring, such as DNA damage in the skin caused by sunburn. 

Other mutations occur in the eggs and sperm and can be passed on to offspring, 

such as a mutation in the gene for sickle cell anemia. 

The term genetic variation refers to differences in alleles and other genetic 

changes between or among individuals. Genetic variation can also refer to how 

often those differences in alleles occur between or among populations. 
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APPENDICES IV

Figure 4: Types of Genetic Variations 

THE SKY IS BLUE

THE S K Y IS BLUE THE S E Y IS BLUE

Original sequence

SNP (single nucleotide polymorphism)

THE SKY I S BLUE

S

I S

THE SKY IS BLUE

Deletion or insertion of stretches of DNA

THE SKY SKY SKY SKY SKY SKY IS BLUE

VNTR (variable number of tandem repeats)

THE SKY YYY IS BLUE

CNV (copy number variant)

Humans have about 99.9 percent our genetic information in common, but there 

is considerable genetic variation. The differences in our genomes can explain 

why we are diverse as individuals or populations in appearance, predisposition 

to specific diseases, and adaptation to our environment. Understanding genetic 

variation is at the heart of understanding the role of genetics in disease.

Genetic variations involving only a single nucleotide base (an A, C, G, or 

T building block) are referred to as single nucleotide polymorphisms, or SNPs

(pronounced “snips”). Most people have thousands of SNPs in their genomes, 

but they often occur in the parts of DNA that do not make proteins, so they 

do not cause disease. When SNPs occur within a gene, they might cause 

disease by affecting the gene’s function. Researchers have found SNPs that 

might help predict how an individual responds to certain drugs, their susceptibility to environmental factors such as toxins, and their risk of developing 
PRIVACY and PROGRESS in Whole Genome Sequencing

114

particular diseases. SNPs have been used 

extensively to study diseases that are passed 

from one generation to the next in families. 

Genetic variation can also involve much 

longer stretches of DNA. Structural variants

involve the insertion, deletion, duplication, 

translocation (the movement of DNA from 

one location to another on the same or 

another chromosome), or inversion (flipping 

over) of long DNA segments (greater than 

about 1,000 base pairs in length). One type of 

structural variation is a copy number variant. 

Copy number variations (CNVs) can occur 

when large sections of DNA are inserted or 

deleted during cell division. Scientists are 

trying to understand how copy number variation contributes to health and disease. Each 

person carries roughly 100 copy number 

variants, but many do not appear to have a 

disease linkage. 

How Genetic Variants Translate into Disease

Today, clinical genetic testing is used in 

individuals with a family history of disease; 

in other words, the tests are limited to those 

who are considered at risk of carrying known genetic variants that are linked 

to a particular disease. However, some clinical studies are evaluating the 

use of whole genome sequencing in regular clinical practice.225 In addition, 

individuals can try to bypass the traditional health care system and use 

the services of companies that offer consumers SNP analysis, whole exome 

sequencing, and more.

Very few genetic variants are directly linked to a specific disease, however some 

examples include cystic fibrosis, sickle cell anemia, and Huntington’s disease. 

Targeted genetic tests have been developed for many of these diseases. Many 

other diseases are suspected to have a genetic component, but scientists have not 

SICKLE CELL ANEMIA

Sickle cell anemia is caused 

by a SNP in the gene for 

hemoglobin, a protein in red 

blood cells that is responsible 

for carrying oxygen. If the 

hemoglobin gene is mutated 

on both alleles, an individual 

will have sickle cell disease, 

which leads to a shortened life 

span. If an individual has one 

normal hemoglobin allele and 

one mutated allele, however, 

they will not have sickle cell 

disease (because they also 

have one functional allele) and

they will have some protection 

against malaria. Sickle cell 

disease is most common 

in populations who live in 

malaria-prone regions of the 

world, because carrying this 

mutation is actually protective 

against malaria. 

Source: CDC. (n.d.). Protective Effect 

of Sickle Cell Trait Against MalariaAssociated Mortality and Morbidity. 

Retrieved from http://www.cdc.gov/

malaria/about/biology/sickle_cell.html.
115

APPENDICES IV

determined which genetic variants might cause them. For example, heart disease 

could be caused by genetic mutations, but it is certainly not a simple case of one 

mutation in one gene. The genetic component of heart disease could be many 

mutations throughout the genome that interact with the environment to cause 

heart disease. Whole genome sequencing could reveal complex interactions 

between genes and disease, where a particular mutation on a certain gene, in 

conjunction with another mutation on another gene, or several other mutations 

on other genes, come together to cause disease. 

Some of the genetic variants discovered during whole genome sequencing will 

have clear links to disease, but the majority will be unknown. Based on how 

they translate to disease, genetic variants can fall into six categories:

•	 Variants of unknown significance: An example of this might be when a 

piece of DNA has been cut out of one location on a chromosome and 

inserted into another location on the chromosome. The fact that the DNA 

is different is clear, but what that difference means, or how it will relate to 

disease, is unclear.

•	 Nonmedical genetic markers: These are genes that code for things such as 

eye color. If there were a mutation in one of these genes, it would not be 

something that would require medical treatment. 

•	 Carrier status: An individual is a carrier of a variant if they have one normal 

and one mutated version of a gene. Most often, the individual is not 

affected by the disease, but they can pass the gene on to their children. An 

example is sickle cell disease, where individuals with one mutated version 

of the gene and one normal version of the gene do not have the full-blown 

disease themselves. 

•	 Susceptibility genes: These are genes that make it more likely, but not 

certain, that an individual will develop a particular disease, i.e., they 

are “susceptible” to it. An individual might carry genes that make them 

susceptible to diabetes, but with proper diet and exercise, they will not 

necessarily develop diabetes. 

•	 Late onset genetic conditions: Late onset conditions present later in life. 

Examples are Alzheimer’s disease, Huntington’s disease, and some 

degenerative eye diseases. 
PRIVACY and PROGRESS in Whole Genome Sequencing

116

•	 Medical conditions found by current prenatal genetic tests: These are 

conditions that, if an individual has one or two copies of the gene, they will 

have the disease, and the disease will affect their health and quality of life 

throughout their life span. An example is phenylketonuria. Individuals with 

phenylketonuria cannot break down a particular amino acid and must follow 

a diet that is low in that amino acid.

Sequencing Strategies

DNA sequencing is the process of determining the exact order of the bases 

(nucleotides) in a strand of DNA. Since base pairing is predictable (A always 

pairs with T; G always pairs with C), knowing the sequence on one strand 

automatically reveals the sequence on the other strand. Sequencing technology 

has rapidly advanced in recent years, allowing scientists to make discoveries 

about the regulation, variability, and evolution of the human genome.226

A consequence of decreasing cost and increasing accessibility of sequencing 

technologies is the increasing use of whole genome sequencing. Whole genome 

sequencing is the process of sequencing all the DNA in an organism, in 

contrast to testing for only a handful of known mutations or sequencing a 

particular gene. Whole genome sequencing reads more than 95 percent of 

the genome, compared to SNP genotyping, which typically covers less than 

0.1 percent of the genome. That said, knowing one person’s complete DNA 

sequence does not necessarily provide useful clinical information, because 

each person’s DNA is different from the DNA of others at millions of places. 

One goal of whole genome sequencing research is to create a reference catalog 

of all common and rare genetic variants in human populations so that the 

relationship between variants and disease can be studied. By comparing one 

person’s whole genome sequence with other whole genome sequences, reference sequences, and associated health information, one can find places in the 

genome where, for example, a group of people with the same DNA mutation at the same locus all have the same disease. Comparisons like this will 

hopefully lead to meaningful associations and ultimately guide clinical and 

personal health decisions. 

Exome sequencing might be an efficient alternative to whole genome 

sequencing in some cases. Exome sequencing selectively sequences only the 

parts of the genome that make proteins (exons). An estimated 85 percent of 
117

APPENDICES IV

disease-causing mutations are found in the exome.227 Therefore, sequencing 

only the exons, which make up about 1 percent of the genome, should be 

faster and less expensive than sequencing the entire genome, and is likely to 

identify most disease-causing mutations. Increasingly, exome sequencing is 

being used in clinical diagnostic testing. However, now that 80 percent of 

the genome has been found to have “biochemical function,” with non-coding 

regions of the genome influencing the activity of genes that are spatially 

distant, exome sequencing that does not find an answer could be complemented by targeted sequencing of non-coding regions.

A genome-wide association study (GWAS) is a method that has been used 

heavily in recent years to identify links between specific genetic variations and 

specific diseases. The method involves studying the genomes of many people 

with and without a disease of interest and searching for genetic markers (e.g., 

SNPs) that can be used to predict the presence of a disease. GWASs alone 

cannot specify which genes cause disease; however, by looking at hundreds of 

thousands of SNPs, researchers can identify mutations that are more frequent 

in people with the disease than without. These mutations are therefore 

considered “associated” with the disease. Disease-associated SNPs are used 

as markers or pointers to the region of the genome where a disease-causing 

mutation is likely to be found. 

The Challenges of Analyzing Whole Genome Sequence Data and Identifying 

Disease Associations

The primary goal of whole genome sequencing research is to describe the 

relationship between genotype (genetic variants) and phenotype (physical 

characteristics, including disease). Whole genome sequence data alone will 

not provide a complete understanding of disease. The data must be linked to 

phenotypic data, such as medical records. Environmental data will also be 

needed to fully understand gene-environment interactions.

A challenge of whole genome sequencing research is the hard-to-detect relationship between genetic variant and phenotypic trait, such as disease risk. To 

interpret an individual’s disease risk, one must have reliable information about 

every validated genetic disease to use as a standard of comparison. Currently, 

there is no central, publicly available repository of all variants found to be 

associated with a clinically relevant trait or disease. 
PRIVACY and PROGRESS in Whole Genome Sequencing

118

Refinements must also be made to take into account the genomic diversity of 

the human population. While no “private” variants have been found only in 

one population and not in others, many variants occur at different frequencies 

in different populations (for example, a particular SNP might be common in 

one population and rare in another). Studying genetic variation across populations can provide some, but not all, clues to the causes of health disparities.228

Finally, even if a specific mutation is linked to a disease, the expression of that 

gene and environmental interactions can result in different phenotypic effects 

in different people. In other words, one person carrying a particular mutation 

might develop the disease and another person with the same mutation might 

not, or that person might exhibit the disease in a more or less severe form. 

Further, a single mutation in one gene rarely leads to the particular phenotype 

of an individual.

The current clinical value of whole genome sequencing for linking genomic 

variants to disease remains challenging because of the many gene-gene and 

gene-environment interactions. Thus, the field continues to work toward 

establishing the clinical validity (future disease positive and negative predictive value stratified by exposure), clinical utility (targeted interventions to 

reduce disease risk among persons with the profile) and public health utility

(comparing reduction of disease burden in the population based on genomic 

analysis) of whole genome sequence data. 
119

APPENDICES IV

Appendix III: Guest Presenters to the Commission Regarding Privacy 

and Whole Genome Sequencing 

George Annas, J.D., M.P.H.

Chair, Health Law, Bioethics 

& Human Rights; William Fairfield 

Warren Distinguished Professor, 

Boston University School of Public Health

Retta Beery

Mother of twins who benefitted 

from diagnosis made possible by 

whole genome sequencing

Greg Biggers

Council Member, Genetic Alliance; 

Chief Executive Officer, Genomera

Ken Chahine, Ph.D., J.D.

Senior Vice President and General 

Manager, Ancestry DNA, LLC

Ellen Wright Clayton, J.D., M.D.

Craig-Weaver Professor of Pediatrics; 

Professor of Law and Director, 

Center for Biomedical Ethics and Society,

Vanderbilt University

Leonard D’Avolio, Ph.D.

Associate Center Director for 

Biomedical Informatics, Massachusetts 

Veterans Epidemiology Research and 

Information Center (MAVERIC), 

Department of Veterans Affairs; 

Instructor, Harvard Medical School

James P. Evans, M.D., Ph.D.

Clinical Professor and Bryson 

Distinguished Professor of Genetics 

and Medicine, Department of Genetics, 

University of North Carolina 

School of Medicine

Richard Gibbs, Ph.D.

Wofford Cain Professor, Department 

of Molecular and Human Genetics; 

Director, Human Genome Sequencing 

Center, Baylor College of Medicine

Jane Kaye, D.Phil., L.L.B.

Director, Centre for Law, Health and 

Emerging Technologies (HeLEX),

Oxford University

Bartha Knoppers, Ph.D.

Director, Centre of Genomics and Policy;

Canada Research Chair in Law and 

Medicine, McGill University

Daniel Masys, M.D.

Affiliate Professor, Biomedical and Health 

Informatics, University of Washington 

School of Medicine

Amy McGuire, J.D., Ph.D.

Associate Professor of Medicine and 

Medical Ethics; Associate Director of 

Research, Center for Medical Ethics and 

Health Policy, Baylor College of Medicine

Melissa Mourges, J.D.

Assistant District Attorney; 

Chief, Forensic Sciences/Cold Case 

Unit, New York County District 

Attorney’s Office

Pilar Ossorio, Ph.D., J.D.

Associate Professor of Law and Bioethics, 

University of Wisconsin-Madison

Erik Parens, Ph.D.

Senior Research Scholar,

The Hastings Center 
PRIVACY and PROGRESS in Whole Genome Sequencing

120

Madison Powers, J.D., D.Phil.

Professor, Department of Philosophy; 

Senior Research Scholar, Kennedy 

Institute of Ethics, Georgetown University

Laura Lyman Rodriguez, Ph.D.

Director, Office of Policy, 

Communications, and Education, 

National Human Genome 

Research Institute,

National Institutes of Health

Mark A. Rothstein, J.D.

Herbert F. Boehl Chair of Law and 

Medicine, University of Louisville 

School of Medicine

Sonia Suter, M.S., J.D.

Professor of Law, 

George Washington University 

Latanya Sweeney, Ph.D.

Visiting Professor and Scholar, Computer 

Science; Director, Data Privacy Lab, 

Harvard University

John Wilbanks

Founder, Consent to Research;

Senior Fellow, Kauffman Foundation; 

Research Fellow, Lybba 

Susan Wolf, J.D.

McKnight Presidential Professor of Law, 

Medicine & Public Policy; 

Faegre & Benson Professor of Law; 

Professor of Medicine; 

Faculty Member, Center for Bioethics,

University of Minnesota
121

APPENDICES IV

Appendix IV: U.S. State Genetic Laws*

AL

AZ

CA CO

CT

FL

ID

IN

IA

KS

LA

ME

MA

MI

MN

MS

MT

NE NV

NM

NY

NC

ND

OK

OR

PA

RI

SC

SD

TX

UT

WA

WI

WY

MO

TN

KY

WV VA

OH MD IL

VT NH

GA

AR

HI

AK

NJ

DE

COMPREHENSIVE 

LAW

LIMITED LAW

NO LAW ON 

POINT

DC

*Map and table current as of March 2012.
PRIVACY and PROGRESS in Whole Genome Sequencing

122

State Citation Consent 

required to 

PERFORM

genetic tests

Consent 

required to 

OBTAIN

genetic 

information

Consent 

required to 

RETAIN

genetic 

information

Consent 

required to 

DISCLOSE

genetic 

information

Application/

context limited to

AL no law on point

AK Alaska Stat. §§ 

18.13.010 through 

18.13.100 (2011)

X X X X comprehensive law

AZ Ariz. Rev. Stat. §§ 

1-602, 12-2801 

through 12-2804, & 

20-448-02 (2011)

X X ordinary course of 

business

AR Ark. Code. Ann. §§ 16-

43-1101, 20-35-101 

through 20-35-103 

(2010)

X X ordinary course of 

business

CA Cal. Civ. Code §§ 

56.17, 56.265 (West 

2010); Cal Ins Code 

10123.35, 10148 

through 10149.1 (2010)

X X X ordinary course of 

business/insurance

CO Colo. Rev. Stat. §§ 

10-3-1104.6 & 10-3-

1104.7 (2010)

X X X X healthcare provider 

or insurance 

company

CT no law on point

DC no law on point

DE 16 Del. Code Ann. §§ 

1201 through 1208 

X X X X comprehensive law

FL Fla. Stat. § 760.40 

(2010)

X X comprehensive law

GA G.A. Code Ann. §§ 33-

54-1 through 33-54-8 

(2011)

X X X insurance

HI Haw. Rev. Stat. §§ 

431:10A-118 (2010)

X insurance

ID no law on point

IL § 225 Ill. Comp. Stat. 

135/90, § 410 ILCS 

513/1 through 513/91 

(2011)

X comprehensive law

IN Ind. Code Ann. § 16-

39-5-2  (LexisNexis 

2011)

X insurance

IA no law on point

KS no law on point

KY no law on point

*Map and table current as of March 2012.
123

APPENDICES IV

State Citation Consent 

required to 

PERFORM

genetic tests

Consent 

required to 

OBTAIN

genetic 

information

Consent 

required to 

RETAIN

genetic 

information

Consent 

required to 

DISCLOSE

genetic 

information

Application/

context limited to

LA La. Rev. Stat. Ann. § 

22:1023, 40:1299.6 

(2011)

X X X insurance

ME 22 Me. Rev. Stat. Ann. 

§ 1711-C (2011)

X healthcare 

providers

MD no law on point

MA Mass. Ann. Laws ch. 

111, § 70G  (2010)

X X healthcare 

providers

MI Mich. Comp. Laws §§ 

333.17020, 333.17520 

(2011)

X healthcare 

providers

MN Minn. Stat. § 13.386 

(2010)

X X X X government entity

MS no law on point

MO Mo. Rev. Stat.

§375.1309 (2011)

X ordinary course of 

business

MT no law on point

NE Neb. Rev. Stat. § 71-

551  (2010)

X healthcare 

providers

NV Nev. Rev. Stat. Ann. 

§§ 629.141 through 

629.201 (2010)

X X X X comprehensive law

NH N.H. Rev. Stat. Ann. 

141-H:1 through 141-

H:6 (2010)

X X X comprehensive law

NJ N.J. Stat. Ann. §§ 

10:5-44 through 10:5-

49 (2011)

X X X X comprehensive law

NM N.M. Stat. Ann. §§ 

24-21-1 through 24-

21-7 (2010)

X X X X comprehensive law

NY N.Y. Civ. Rights Law § 

79-l  (2011)

X X X X comprehensive law

NC no law on point

ND no law on point

OH no law on point

OK 21 Okla. Stat. § 1175 X X newborns

OR Or. Rev. Stat. §192.531 

to 192.549 (SB 618)

X X X X comprehensive law

PA no law on point

*Map and table current as of March 2012.
PRIVACY and PROGRESS in Whole Genome Sequencing

124

State Citation Consent 

required to 

PERFORM

genetic tests

Consent 

required to 

OBTAIN

genetic 

information

Consent 

required to 

RETAIN

genetic 

information

Consent 

required to 

DISCLOSE

genetic 

information

Application/

context limited to

RI R.I. Gen. Laws §27-18-

52, 52.3, §27-19-44, 

44.1, §27-20-39. 39.1, 

§27-41-53, 53.1

X insurance

SC S.C. Code Ann. §38-

93-10 to §38-93-90; 

S.C. Code Ann. § 

16-1-10 

X X insurance

SD S.D. Codified Laws 

§34-14-14 to -24

X comprehensive law

TN no law on point

TX Tex. Ins. Code Ann. 

§546.001 et squ. 

X X insurance

UT no law on point

VT V.T. Stat. Ann. tit. 18, 

§9331 to 9335

X X comprehensive law

VA V.A. Code Ann. §38.2-

508.4

X insurance

WA Wash. Rev. Code 

§70.02.05 through 

70.02.90; RCW 

49.44.180 

X healthcare 

providers

WV no law on point

WI Wis. Stat. §942.07 X X X employment

WY Wyo. Stat. Ann. §14-2-

701 to 710

X X perform: 

comprehensive 

prohibition; 

disclose: 

paternity law

*Map and table current as of March 2012.
125

ENDNOTES
PRIVACY and PROGRESS in Whole Genome Sequencing

126

1 The individuals mentioned in these vignettes have given their permission to have their names included. 

2 For more detail, please see CHAPTER 2: POLICY AND GOVERNANCE-Privacy Regulations. 

3 The Genomics and Personalized Medicine Act of 2006 (S. 3822, 109th Cong. [2006]; subsequently 

reintroduced in the Senate in 2007 and in the House of Representatives in 2008 and 2010) encouraged 

accelerating genetics and genomics research and translating knowledge gained into clinical and public health 

applications. The proposed bill stated that “pharmacogenetics has the potential to dramatically increase 

the efficacy and safety of drugs and reduce health care costs, and is fundamental to the practice of genomebased personalized medicine.” The Act identified several drugs that are more or less effective in people with 

particular genetic profiles, including the cancer drug Gleevac, the breast cancer drug Herceptin, and the 

acute lymphoblastic leukemia drug 6-mercaptopurine. All four bills were referred to committee and were not 

enacted.

4 American Medical Association (AMA). (2007). Personalized Health Care Report 2008: Warfarin and Genetic 

Testing. Retrieved from http://www.ama-assn.org/ama1/pub/upload/mm/464/warfarin-brochure.pdf.

5 Kolata, G. (2012, September 5). Bits of mystery DNA, far from ‘junk,’ play crucial role. New York Times, 

p. A1. Retrieved from http://www.nytimes.com/2012/09/06/science/far-from-junk-dna-dark-matter-provescrucial-to-health.html?_r=2&hp; Young, E. (2012, September). ENCODE: The rough guide to the human 

genome. Discover Magazine. Retrieved from http://blogs.discovermagazine.com/notrocketscience/2012/09/05/

encode-the-rough-guide-to-the-human-genome/.

6 McGuire, A.L., and J.R. Lupski. (2010). Personal genome research: What should the participant be told? 

Trends in Genetics, 26(5), 199-201.

7 Kolata, G., op cit.

8 Donley, G., Hull, S.C., and B.E. Berkman. (2012). Prenatal whole genome sequencing: Just because we can, 

should we? Hastings Center Report, 42(4), 28-40.

9 Cirulli, E.T., and D.B. Goldstein. (2010). Uncovering the roles of rare variants in common disease through 

whole-genome sequencing. Nature Reviews Genetics, 11, 415-425.

10 The National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. 

(1978). The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research. 

Washington, DC: Department of Health, Education, and Welfare, DHEW Publication OS 78-0012. 

Retrieved from http://www.hhs.gov/ohrp/humansubjects/guidance/belmont.html; PCSBI. (2010, December). 

New Directions: The Ethics of Synthetic Biology and Emerging Technologies. Washington, DC: PCSBI.

11 Pokorska-Bocci, A. (2010). Early examples of clinical use of whole-genome sequencing. Retrieved from http://

www.phgfoundation.org/news/5708/. 

12 Beery, R., Mother of twins who benefitted from improved diagnosis gained by whole genome sequencing. 

(2012). The Beery Family Whole Genome Sequencing Success. Presentation to the Presidential Commission 

for the Study of Bioethical Issues (PCSBI), February 2, 2012. Retrieved from http://bioethics.gov/cms/

node/658. 

13 Topol, E. (2012). The Creative Destruction of Medicine: How the Digital Revolution Will Create Better Health 

Care. New York: Basic Books.

14 Fan, H.C., et al. (2012). Non-invasive prenatal measurement of the fetal genome. Nature, 487, 320-324; 

Motluk, A. (2012). Fetal genome deduced from parental DNA, Nature News, doi:10.1038.

15 Topol, E., op cit. 

16 Donley, G., et al., op cit. 
127

ENDNOTES V

17 Geller, L.N., et al. (1996). Individual, family, and societal dimensions of genetic discrimination: A case study 

analysis. Science and Engineering Ethics, 2(1), 71-88; NOVA. (2012). Cracking Your Genetic Code, 46:30 et 

seq. Retrieved from http://video.pbs.org/video/2215641935; Suter, S., Professor of Law, George Washington 

University. (2012). How Technology is Changing Views of Privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748.

18 Allen, A.L. (2011). Privacy Law and Society, 2nd ed. St. Paul, MN: Thomson Reuters.

19 Ibid; DeCew, J. (2012). Privacy. In E.N. Zalta (ed.), The Stanford Encyclopedia of Philosophy (Fall 2012 

Edition). Stanford, CA: The Metaphysics Research Lab, Stanford University. Retrieved from http://plato.

stanford.edu/archives/fall2012/entries/privacy/.

20 PCSBI. (2010, December). New Directions: The Ethics of Synthetic Biology and Emerging Technologies. 

Washington, DC: PCSBI.

21 National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. 

(1979). The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research. 

Washington, DC: Department of Health, Education, and Welfare, DHEW Publication OS 78-0012. 

Retrieved from http://www.hhs.gov/ohrp/humansubjects/guidance/belmont.html. 

22 PCSBI. (2010, December). New Directions: The Ethics of Synthetic Biology and Emerging Technologies. 

Washington, DC: PCSBI, pp. 24-25, 113.

23 Ibid, pp. 25-27, 123-127.

24 Ibid, pp. 27-28, 141-145.

25 Ibid.

26 Ibid.

27 Ibid, pp. 28-30, 151.

28 Ibid, pp. 30-31, 161-163.

29 The Commission reached out to the heads of the 18 federal agencies and departments that have adopted the 

federal Common Rule for protecting human research participants. They are: Department of Agriculture; 

Department of Commerce; Department of Defense; Department of Education; Department of Energy; 

Department of Health and Human Services; Department of Homeland Security; Department of Housing and 

Urban Development; Department of Justice; Department of Transportation; Department of Veterans Affairs; 

Agency for International Development; Consumer Product Safety Commission; Environmental Protection 

Agency; National Aeronautics and Space Administration; National Science Foundation; Social Security 

Administration; and the Central Intelligence Agency .

30 Request for Comments on Issues of Privacy and Access With Regard to Human Genome Sequence Data, 77 

Fed. Reg. 18, 247 (March 27, 2012). 

31 For example, the American College of Medical Genetics and Genomics is taking the lead in considering 

which results ought to be returned. A number of federal agencies have looked into direct-to-consumer testing, 

including the Secretary’s Advisory Committee on Genetic Testing in its report “Enhancing the Oversight of 

Genetic Tests: Recommendations of the SACGT” (http://oba.od.nih.gov/oba/sacgt/reports/oversight_report.

pdf); its successor, the Secretary’s Advisory Committee on Genetics, Health, and Society in its report “U.S. 

System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human 

Services” (http://oba.od.nih.gov/oba/sacghs/reports/sacghs_oversight_report.pdf); and by the Government 

Accountability Office first in its 2006 report “Nutrigenetic Testing: Tests Purchased from Four Web Sites 

Mislead Consumers” (http://www.gao.gov/new.items/d06977t.pdf) and in its 2010 report “Misleading 

Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices” (http://

www.gao.gov/products/GAO-10-847T). The Food and Drug Administration has also considered the issue 

of direct-to-consumer testing, but has not yet published any formal recommendations. And the American 
PRIVACY and PROGRESS in Whole Genome Sequencing

128

Heart Association recently published a report entitled “Genetics and cardiovascular disease: a policy statement 

from the American Heart Association” that discussed gene patenting and insurance coverage of genetic tests 

(Ashley, E.A. et al. (2012). Genetics and cardiovascular disease: A policy statement from the American Heart 

Association. Circulation, 126).

32 Gutmann, A., Chair, PCSBI. (2012). How Technology is Changing Views of Privacy. Addressing PCSBI, 

August 1, 2012. Retrieved from http://bioethics.gov/cms/node/748.

33 National Commission, op cit.

34 PCSBI, (2010, December), op cit.

35 Ibid, pp. 24-25, 113.

36 The distribution of both scientific knowledge and subsequently of economic opportunity in the field of genome 

sequencing has been debated within the legal system. In a recent example, Myriad Genetics attempted to 

patent the BRCA1 and BRCA2 genes, which are associated with breast and ovarian cancer. Myriad Genetics’ 

actions were contested by the American Civil Liberties Union, which argued that they were in violation of 

the First Amendment. In August 2012, a U.S. federal appeals court ruled that the company has the right to 

patent the two genes, stating that the patents would encourage innovation, but simultaneously denied the 

company’s attempt to patent methods comparing or analyzing DNA sequences. Reuters. (2012, August 16). 

Court reaffirms right of myriad genetics to patent genes. New York Times. Retrieved from http://www.nytimes.

com/2012/08/17/business/court-reaffirms-right-of-myriad-genetics-to-patent-genes.html?_r=1.

37 Battelle. (n.d.). $3.8 billion investment in Human Genome Project drove $796 billion in economic impact 

creating 310,000 jobs and launching the genomic revolution. Retrieved from http://www.battelle.org/media/

news/2011/05/11/$3.8-billion-investment-in-human-genome-project-drove-$796-billion-in-economic-impactcreating-310-000-jobs-and-launching-the-genomic-revolution. 

38 PCSBI, (2010, December), op cit.

39 Aristotle, Politics, (Benjamin Jowett trans., Dover first ed. 2000) (350 B.C.); DeCew, J.W. (1997). In Pursuit of 

Privacy. Ithaca, NY: Cornell Press, p.10.

40 Warren, S.D., and L.D. Brandeis. (1890), The Right to Privacy, 4 Harv. L. Rev. 5.

41 Lowrance, W. (2012). Privacy, Confidentiality, and Health Research. New York: Cambridge University Press, 

p. 40-47.

42 Allen, A.L. (1997). Genetic privacy: Emerging concepts and values. In M. Rothstein (Ed.), Genetic Secrets: 

Protecting Privacy and Confidentiality in the Genetic Era (pp. 31-59). New Haven, CT: Yale University Press; 

Allen, A.L. (1999). Coercing Privacy, 40 Wm. & Mary L. Rev. 723 (1999); DeCew, J.W. (2004). Privacy and 

policy for genetic research. Ethics and Information Technology, 6, 5-14; Farahany, N.A. (2012). Searching Secrets, 

160 U. Penn. L. Rev. 1239, 1255.

43 Fried, C. (1970). An Anatomy of Values. Cambridge: Harvard University Press; Moore v. Regents of the Univ. 

of Cal., 51 Cal. 3d 120 (Cal. 1990); Rachels, J. (1975). Why privacy is important. Philosophy & Public Affairs, 

4(4), 323-333.

44 Newcombe, H.B. (1994). Cohorts and privacy. Cancer Causes and Control, 5(3), 287-291.

45 Allen, A.L. (2009). Confidentiality: An expectation in healthcare. In Ravitsky, V., Fiester, A., and A.L. Caplan 

(Eds.), The Penn Center Guide to Bioethics. (pp.127-135). New York: Springer Publishing Co.

46 Goldstein, M., Associate Professor, Department of Health Policy, School of Public Health and Health Services, 

George Washington University, and McGraw, D., Director, Health Privacy Project, Center for Democracy and 

Technology. (2012). Comments submitted to PCSBI, May 25, 2012; Health Privacy Project. (2007). Health 

Privacy Stories. Retrieved from https://www.cdt.org/healthprivacy/20080311stories.pdf.
129

ENDNOTES V

47 Williams, S., et al. (2009). The Genetic Town Hall: Public Opinion About Research on Genes, Environment, and 

Health. Washington, DC: Genetics and Public Policy Center. Retrieved from http://www.dnapolicy.org/pub.

reports.php?action=detail&report_id=27.

48 Kaufman, D.J., et al. (2009). Public opinion about the importance of privacy in biobank research. The 

American Journal of Human Genetics, 85(5), 643-654.

49 Genetics and Public Policy Center. (2007, April 24). U.S. Public Opinion on Uses of Genetic Information 

and Genetic Discrimination. Retrieved from http://www.dnapolicy.org/resources/GINAPublic_Opinion_

Genetic_Information_Discrimination.pdf.

50 McGuire, A.L., et al. (2008). DNA data sharing: Research participants’ perspectives. Genetics in Medicine, 

10(1), 46-53.

51 For a survey of self-reported genetic discrimination, see Geller, L.N., et al. (1996). Individual, family, and 

societal dimensions of genetic discrimination: A case study analysis. Science and Engineering Ethics, 2(1), 71-88; 

NOVA. (2012, March 28). Cracking Your Genetic Code, 46:30 et seq. Retrieved from http://video.pbs.org/

video/2215641935 (Discussing potential harms from whole genome sequencing at birth).

52 Powers, M., Professor, Department of Philosophy, Senior Research Scholar, Kennedy Institute of Ethics, 

Georgetown University. (2012). Theory and Practice of a Right to Privacy. Presentation to PCSBI, May 17, 

2012. Retrieved from http://bioethics.gov/cms/node/712.

53 Andrews, L.B. (2001). Future Perfect. New York: Columbia University Press.

54 For example in EEOC v. Burlington Northern and Santa Fe Railway, the Federal District Court for the 

Northern District of Iowa addressed the scope of protection from genetic discrimination under the Americans 

with Disabilities Act. In this case, the railway required that employees who complained of carpal tunnel 

syndrome undergo genetic testing for a genetic predisposition. No. C01-4013 (N.D. Iowa Feb. 9, 2001).

55 Sweeney, L., Visiting Professor and Scholar, Computer Science; Director, Data Privacy Lab, Harvard 

University. (2012). How Technology is Changing Views of Privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748.

56 The Belmont Report recognizes that not all persons can act as autonomous agents, and makes clear that there 

are special responsibilities to those who cannot. National Commission for the Protection of Human Subjects 

of Biomedical and Behavioral Research. (1979). The Belmont Report: Ethical Principles and Guidelines for the 

Protection of Human Subjects of Research. Washington, DC: Department of Health, Education, and Welfare, 

DHEW Publication OS 78-0012. Retrieved from http://www.hhs.gov/ohrp/humansubjects/guidance/

belmont.html. 

57 Brock, D. (1999). A critique of three objections to physician-assisted suicide. Ethics, 109(3), 523-524.

58 PCSBI. (2010, December). New Directions: The Ethics of Synthetic Biology and Emerging Technologies. 

Washington, DC: PCSBI.

59 Ibid.

60 Ibid, p. 31.

61 Sweeney, L., Visiting Professor and Scholar, Computer Science, Director, Data Privacy Lab, Harvard 

University. (2012). How Technology is Changing Views of Privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748. 

62 PCSBI, (2010, December), op cit, p.5.

63 Ibid. 
PRIVACY and PROGRESS in Whole Genome Sequencing

130

64 Gutmann, A., and D. Thompson. (1996). Democracy and Disagreement. Cambridge, MA: Harvard University 

Press. 

65 Trinidad, S.B., et al. (2010). Genomic research and wide data sharing: Views of prospective participants. 

Genetics in Medicine, 12(8), 486-495. 

66 Lake Research Partners and American Viewpoint. (2006). National Survey on Electronic Personal Health 

Records, conducted by the Markle Foundation. Retrieved from http://www.markle.org/sites/default/files/

research_doc_120706.pdf.

67 Gottweis, H., and K. Zatloukal. (2007). Biorepository governance: Trends and perspectives. Pathobiology, 

74(4), 206-211.

68 In the early 1990s, researchers obtained consent from the Havasupai Indian tribe to collect samples and 

conduct research on a genetic link to diabetes. The University of Arizona conducted the initial research, and 

later used the samples from the Havasupai to perform unrelated studies, including genetic and medical records 

analysis of inbreeding, schizophrenia, migration history, and genealogy. The Havasupai sued the University, 

alleging that it misused their genetic information, and that it conducted research for which it never obtained 

informed consent. The lawsuit resulted in a large settlement and destruction of the samples. Eriksson, S., and 

G. Helgesson. (2005). Potential harms, anonymization, and the right to withdraw consent to biobank research. 

European Journal of Human Genetics, 13(9), 1071-1076; Harmon, A. (2010, April 21). Indian tribe wins fight to 

limit research of its DNA. New York Times. Retrieved from http://www.nytimes.com/2010/04/22/us/22dna.

html?pagewanted=all.

69 The Common Rule is a federal regulation regarding human subject research, adopted by 18 federal agencies; 

see footnote 29. 

70 Those agencies are: 1) USAID; 2) CIA; 3) CPSC; 4) USDA; 5) DOC; 6) DOE; 7) ED; 8) EPA; 9) HUD; 10) 

NASA; 11) NSF; and 12) SSA. SSA does receive genetic information that it considers personally identifiable 

information and deals with the information accordingly. 

71 USDA indicated that its Agricultural Research Service expects to conduct human research programs in the 

future that may include more extensive use of whole genome analysis or sequencing.

72 Chief Information Officer, Office of Information Services, Centers for Medicare & Medicaid Services. 

(2007). Policy for Privacy Act Implementation & Breach Notification. Retrieved from https://www.cms.gov/

SystemLifecycleFramework/downloads/privacypolicy.pdf; E-Government Act, 116 Stat. 2899 (2002); Federal 

Information Security Management Act (FIMSA), 116 Stat. 2899 (2002); Health Information Technology 

for Economic and Clinical Health (HITECH), 123 Stat. 115 (2009); Health Insurance Portability and 

Accountability Act (HIPAA), 110 Stat. 1936 (1996); Policy for Privacy Act Implementation and Breach 

Notification, 5 U.S.C.§ 552a. 

73 DOD. (2002). DOD Directive 6025.18, Privacy of Individually Identifiable Health Information in DOD 

Health Care Programs. December 19, 2002. Retrieved from http://biotech.law.lsu.edu/blaw/dodd/corres/

html/602518.htm; DOD Regulation, DOD Directive 8580.02-R. (2007). DOD Health Information Security 

Regulation; DOD Regulation, DOD Directive 5400.11-R. (2007). Department of Defense Privacy Program.

74 Letter from Earl C. Wyatt, Deputy Assistant Secretary of Defense, and Rapid Fielding, DOD to Amy 

Gutmann, Chair, PCSBI. (April 27, 2012).

75 HITECH, Key provisions codified at 42 U.S.C. §§17931 et seq.; HIPAA, Key provisions codified at 42 

U.S.C. §§ 1320d et seq.; FISMA, Key provisions codified at 44 U.S.C. §§ 3541 et seq. and 40 U.S.C. § 11331; 

Confidential Information Protection and Statistical Efficiency Act (CIPSEA), 44 U.S.C. § 3501 note, see also 

the OMB Implementation Guidance on CIPSEA, 72 Fed. Reg. § 33361 (2007); AHRQ general provisions, 

42 U.S.C. § 299c-3(c); SAMHSA General Provisions, 42 U.S.C. § 290aa(n); Privacy Act of 1974, 5 U.S.C. § 

552a; Confidentiality of information from health statistics and other activities, 42 U.S.C. § 242m(d). 

76 Letter from Kathleen Sebelius, Secretary, HHS to Amy Gutmann, Chair, PCSBI. (May 16, 2012).
131

ENDNOTES V

77 The Public Health Service Act, 42 U.S.C. §242m, part 301(d).

78 Letter from Kathleen Sebelius, Secretary, HHS to Amy Gutmann, Chair, PCSBI. (May 16, 2012).

79 Ibid.

80 Ibid.

81 NIH. (2007). NIH Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide 

Association Studies (GWAS). Retrieved from http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-

088.html; See updated data access policy at http://gwas.nih.gov/pdf/Data Sharing Policy Modifications.pdf.

82 Federal Bureau of Investigation (FBI). (2012, June). CODIS-NDIS Statistics [web post]. Retrieved from 

http://www.fbi.gov/about-us/lab/codis/ndis-statistics.

83 FBI. (n.d.). Frequently Asked Questions (FAQs) on the CODIS Program and the National DNA Index System 

[web post]. Retrieved from http://www.fbi.gov/about-us/lab/codis/codis-and-ndis-fact-sheet/.

84 Collection and Use of DNA Identification Information from Certain Federal Offenders Act, 42 U.S.C. § 

14135a; Collection of DNA Samples, 28 C.F.R. §28.12.

85 VA. (2011). The Million Veteran Program: VA’s Genomics Game-Changer Launches Nationwide [Press 

Release]. Retrieved from http://www.va.gov/opa/pressrel/pressrelease.cfm?id=2090.

86 VA has departmental policies, including the Notice of Privacy Handbook Practice 1605.04 and Determining 

Service Connection for Congenital, Developmental, or Hereditary Disorders. See Letter from Robert A. 

Petzel, Under Secretary for Health, VA to Amy Gutmann, Chair, PCSBI. (May 1, 2012).

87 VA. (2011). The Million Veteran Program: VA’s Genomics Game-Changer Launches Nationwide [Press 

Release]. Retrieved from http://www.va.gov/opa/pressrel/pressrelease.cfm?id=2090.

88 Letter from Judith S. Kaleta, Deputy General Counsel, DOT to Amy Gutmann, Chair, PCSBI. (August 1, 

2012).

89 Bregman-Eschet, Y. (2006). Genetic Databases And Biobanks: Who Controls Our Genetic Privacy? 23 Santa 

Clara Computer & High Tech. L.J. 1.

90 23andMe. (2012, April 10). What is the difference between genotyping and sequencing? [Frequently Asked 

Questions web post]. Retrieved from https://customercare.23andme.com/entries/21262606.

91 US Patent Number 8,187,811 (filed Nov. 30, 2010). 

92 Lowrance, W. (2012). Privacy, Confidentiality, and Health Research. New York: Cambridge University Press, 

p. 48.

93 See e.g., Farahany, N.A. (2012).Searching Secrets, 160 U. Penn. L. Rev. 1277-83 (2012).

94 Confidentiality and Disclosure of Returns and Return Information, 26 U.S.C. § 6103(d) et. seq.

95 See e.g., Census Confidentiality Statute of 1954, 13 U.S.C. §9 (1954); HIPAA Privacy Rule, 45 C.F.R. § 

164.514.

96 Fair Credit Reporting Act, 15 U.S.C. § 1681 et seq.; Privacy Act of 1974, 5 U.S.C. § 552a; HHS. (2004). 

The Confidentiality of Alcohol And Drug Abuse Patient Records Regulation and the HIPAA Privacy 

Rule: Implications for Alcohol and Substance Abuse Programs. June. Retrieved from http://www.nj.gov/

humanservices/das/information/SAMHSA-Pt2-HIPAA.pdf; Family Educational Rights and Privacy Act 

of 1974, 20 U.S.C. § 1232g; Electronic Communications Privacy Act of 1986, 18 U.S.C. § 2510-22; Video 

Privacy Act of 1988, 18 U.S.C. § 2710; Children’s Online Privacy Protection Act of 1998, 15 U.S.C. §§ 

6501–6506; and Gramm-Leach-Bliley Act, Pub. L. 106-102, 113 Stat. 1338.

97 Department of Health, Education, and Welfare (DHEW). (1973). Records, Computers and the Rights of 

Citizens: Report of the Secretary’s Advisory Committee on Automated Personal Data Systems. Retrieved from 
PRIVACY and PROGRESS in Whole Genome Sequencing

132

http://aspe.hhs.gov/datacncl/1973privacy/tocprefacemembers.htm. The Electronic Communications Privacy 

Act of 1986 is not a fair information statute, but rather a set of rules regulating government and other access to 

the many modes of communications used in daily life.

98 DHEW. (1973). Records, Computers and the Rights of Citizens: Report of the Secretary’s Advisory 

Committee on Automated Personal Data Systems. Retrieved from http://aspe.hhs.gov/datacncl/1973privacy/

tocprefacemembers.htm.

99 HIPAA, Pub. L. 104-191, 110 Stat. 1936, enacted August 21, 1996.

100 HIPAA Privacy Rule, 45 C.F.R. § 164.501.

101 HIPAA Privacy Rule, 45 C.F.R. § 160, 164.

102 HIPAA Privacy Rule, 45 C.F.R. § 164.514.

103 On the other hand, deceased individuals are not considered “human subjects” under, and are therefore not 

covered by, the Common Rule. 45 C.F.R. § 46.102(f). 

104 HIPAA Administrative Simplification: Standards for Privacy of Individually Identifiable Health Information, 

Proposed Rule, 74 Fed. Reg. 51698 (Oct. 7, 2009). 

105 Institute of Medicine (IOM). (2009). Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health 

Through Research. Washington, DC: National Academies Press. 

106 HIPAA Privacy Rule, 45 C.F.R. § 164.502.

107 HIPAA Privacy Rule, 45 C.F.R. § 164.502(b).

108 HIPAA Privacy Rule, 45 C.F.R. § 164.502.

109 HITECH, 42 U.S.C. § 300jj.

110 The Office of the National Coordinator for Health Information Technology [web post]. (n.d.). Retrieved from 

http://healthit.hhs.gov/portal/server.pt/community/healthit_hhs_gov__onc/1200.

111 Protection of Human Subjects, 45 C.F.R. § 46. 

112 Office for Human Research Protections (OHRP). (2008). OHRP Guidance on Research Involving Coded 

Private Information or Biological Specimens. October 16. Retrieved from http://www.hhs.gov/ohrp/policy/

cdebiol.html.

113 Human Subject Research Protections: Enhancing Protections for Research Subjects and Reducing Burden, 

Delay, and Ambiguity for Investigators, 76 Fed. Reg. 44512, 44524. 

114 Ibid.

115 See e.g., The Personal Information Protection and Electronic Documents Act, S.C. 2000, c. 5 (Canada, 2000); 

The Personal Data Act (523/1999) (Finland, 1999); The Federal Data Protection Act, BDSG 2003 (Germany, 

2003); Act on the Protection and Processing of Personal Data, No. 77/2000 (Iceland, 2000); Personal Data 

Protection Code, Legisl. Ital. 196 (Italy, 2003); Data Protection Act, Cap. 440 (Malta, 2001); Personal Data 

Protection Act, 95/46/EC (Netherlands, 2001); Privacy Act, Public Act 1993 No 28 (New Zealand, 1993). 

116 European Union, Directive 95/46/EC (1995). 

117 See e.g., The Personal Information Protection and Electronic Documents Act, S.C. 2000, c. 5 (Canada, 2000); 

European Union, Directive 95/46/EC (1995).

118 See e.g., Patient Rights’ Act, Law No. 482 (Denmark, 1998); Patients’ Rights Act, No. 63 (Norway, 1999).

119 See e.g., Law on the Rights of Patients, (Belgium, 2002); Act on the Status and Rights of Patients, No. 

785/1992 (Finland, 1992); Patient’s Rights Act (Romania, 1996). 
133

ENDNOTES V

120 Law No. 20120 on scientific research on human beings, the human genome, and the prohibition of cloning 

(Chile, 2007); see also, Human Genome Research Act, RT I 2000, 104, 685 (Estonia, 2000); Rights of Users 

of Genetic Services Act (France, 2004); Law 14/2007 on Biomedical Research (Spain, 2007); Human Genetic 

Examination Act (Germany, 2009); Genetic Information Law, 5761-2000 (Israel, 2000). 

121 See e.g., Law on the Rights of Patients, No. 283-IIS (Georgia, 2000); Human Genetic Examination Act 

(Germany, 2009).

122 Genetic Information Nondiscrimination Act (GINA), 122 Stat. 881-922 (2008). 

123 Kang, P.B. (2011). Presymptomatic and early symptomatic genetic testing. Neurogenetics, 2, 343-6. 

124 Kostecka, B.E. (2009). GINA Will Protect You, Just Not From Death: The Genetic Information 

Nondiscrimination Act and Its Failure to Include Life Insurance within Its Protections, 34 Seton Hall Legis. J. 93 

(2009).

125 HIPAA, 29 U.S.C. §§1181-82, 42 U.S.C. §§300gg-41.

126 GINA, 122 Stat. 881-922 (2008).

127 Ibid.

128 Rothstein, M.A. (n.d.). GINA’s beauty is only skin deep. Genewatch. Retrieved from http://www.

councilforresponsiblegenetics.org/GeneWatch/GeneWatchPage.aspx?pageId=184.

129 Kostecka, op cit. 

130 See Appendix IV: State Law Tables. Also see Genome Statute and Legislation Database. (2010). Retrieved from 

http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm

131 See e.g., Del. Code Ann. §§ 12.2.1220 to 12.2.1227.

132 See e.g., Ariz. Rev. Stat. Ann. §12-2801-4, §20-448.02.

133 See e.g., Colo. Rev. Stat. 10-3-1104.7.

134 Whalen v. Roe 429 U.S. 589 (1977); Sorrell v. IMS Health Inc., 131 S. Ct. 2653 (2011).

135 For a discussion on how Courts have generally disfavored a property-rights analysis in identifying information, 

see Farahany, op cit. 

136 Moore v. Regents of the Univ. of Cal., 51 Cal. 3d 120 (Cal. 1990). 

137 Rodriguez, L.L., Director, Office of Policy, Communications, and Education, National Human Genome 

Research Institute, NIH. (2012). Presentation to PCSBI, August 1, 2012. Retrieved from http://bioethics.gov/

cms/node/749.

138 Knoppers, B., Director, Centre of Genomics and Policy, Canada Research Chair in Law and Medicine, McGill 

University. (2012). Presentation to PCSBI, August 1, 2012. Retrieved from http://bioethics.gov/cms/node/740.

139 HITECH, Pub. L. 111-5, 123 Stat. 115 (2009); E-Government Act, Pub. L. 107-347, 116 Stat. 2899 (2002); 

HIPAA, Pub. L. 104-191, 110 Stat. 1936 (1996); Privacy Act, 5 U.S.C. § 552a; GINA, Pub. L. No. 110-233, 

122 Stat. 881 (2008); PCSBI. (2012). Analysis of Responses to Common Rule Agency Data Call; See 

Appendix IV: U.S. State Genetic Laws. 

140 An example of a third-party storage and analysis provider is cloud computing services, which include 

web-based systems of virtual servers.

141 Rachels, J. (1975). Why privacy is important. Philosophy & Public Affairs, 4(4), 323-333.
PRIVACY and PROGRESS in Whole Genome Sequencing

134

142 Sweeney, L.S., Visiting Professor and Scholar, Computer Science; Director, Data Privacy Lab, Harvard 

University. (2012). How technology is changing views of privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748. 

143 Harmon, A. (2010, April 21). Indian tribe wins fight to limit research of its DNA. New York Times. Retrieved 

from http://www.nytimes.com/2010/04/22/us/22dna.html?pagewanted=all.

144 Bearder v. State, 788 N.W.2d 144 (2010); Settlement Agreement and Release, Beleno v. Tex. Dept. of State 

Health Servs., No. SA-09-CA-188-FB (W.D. Tex. 2009). Document obtained from plaintiffs’ attorney, Jim 

Harrington, at the Texas Civil Rights Project.

145 NIH. (2008). Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide 

Association Studies (GWAS). Retrieved from http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-

088.html.

146 GINA, Pub. L. No. 110-233, 122 Stat. 881 (2008).

147 Baruch, S., and K. Hudson. (2008). Civilian and military genetics: Nondiscrimination policy in a postGINA world. American Journal of Human Genetics, 83, 435-444; Greenbaum, D., et al. (2011). Genomics 

and privacy: Implications of the new reality of closed data for the field. PLoS Computational Biology, 7(12), 

e1002278; Hayden, E.C. (2012). A broken contract. Nature, 486, 312-314.

148 The Affordable Care Act of 2010 helps mitigate concerns about obtaining insurance with its prohibition on 

discriminating against individuals with pre-existing conditions.

149 Sweeney, L.S., Visiting Professor and Scholar, Computer Science Director, Data Privacy Lab, Harvard 

University. (2012). How Technology is Changing Views of Privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748.

150 Genetics and Public Policy Center. (2009, January 21). State laws pertaining to surreptitious DNA testing. 

Retrieved from http://www.dnapolicy.org/resources/State_law_summaries_final_all_states.pdf.

151 Genomics Law Report. (2010). Surreptitious genetic testing: WikiLeaks highlights gap in 

genetic privacy law. Retrieved from http://www.genomicslawreport.com/index.php/2010/12/09/

surreptitious-genetic-testing-wikileaks-highlights-gap-in-genetic-privacy-law/.

152 Lake Research Partners and American Viewpoint. (2006). National Survey on Electronic Personal Health 

Records, conducted by the Markle Foundation. Retrieved from http://www.markle.org/sites/default/files/

research_doc_120706.pdf.

153 Aldhous, P., and M. Reilly. (2009). Special investigation: How my genome was hacked. New Scientist. 

Retrieved from http://www.newscientist.com/article/mg20127013.800-special-investigation-how-my-genomewas-hacked.html?page=1.

154 Green, R.C., and G.J. Annas. (2008). The genetic privacy of presidential candidates. New England Journal of 

Medicine, 359(21), 2192-2193.

155 HHS Health Information Privacy, HIPAA Breach Notification Rule, Breaches Affecting 500 or More 

Individuals. Retrieved from http://www.hhs.gov/ocr/privacy/hipaa/administrative/breachnotificationrule/

breachtool.html.

156 Memorial Sloan-Kettering Cancer Center. (2012, June 15). Privacy Alert. Retrieved from http://www.mskcc.

org/public-notices/privacy-alert.

157 Sweeney, L.S., Visiting Professor and Scholar, Computer Science Director, Data Privacy Lab, Harvard 

University. (2012). How Technology is Changing Views of Privacy. Presentation to PCSBI, August 1, 2012. 

Retrieved from http://bioethics.gov/cms/node/748.

158 Terry, S.F., and P.F. Terry. (2001). A consumer perspective on informed consent and third party issues. Journal 

of Continuing Education in the Health Professions, 21, 256-264.
135

ENDNOTES V

159 HHS Health Information Privacy, HIPAA Breach Notification Rule, Breaches Affecting 500 or More 

Individuals. Retrieved from http://www.hhs.gov/ocr/privacy/hipaa/administrative/breachnotificationrule/

breachtool.html.

160 Dissemination of Information (AHRQ), 42 USC §299C-3; General Provisions Respecting Effectiveness, 

Efficiency, and Quality of Health Services (CDC), 42 USC §242M; Justice System Improvement 

Administrative Provisions, 42 USCS § 3789g. Confidentiality of Information; The Public Health and Welfare 

Act, 42 U.S.C. § 46.

161 NIH. (2002). Notice NOT-OD-02-037, NIH Announces Statement on Certificates of Confidentiality. March 

15. Retrieved from http://grants.nih.gov/grants/guide/notice-files/NOT-OD-02-037.html.

162 Cooper, Z.N., Nelson, R.M., and L.F. Ross. (2004). Certificates of confidentiality in research: Rationale and 

usage. Genetic Testing, 8(2), 214-220. This study sampled three NIH institutes: The National Human Genome 

Research Institute (NHGRI); the National Heart, Lung, and Blood Institute (NHLBI); and the National 

Institute of Neurological Disorders and Stroke (NINDS).

163 Angrist, M. (2010). Urge overkill: Protecting deidentified human subjects at what price? Health Privacy in 

Research, 10(9), 17-18; Catania, J.A., et al. (2007). Research participants’ perceptions of the certificate of 

confidentiality’s assurances and limitations. Journal of Empirical Research on Human Research Ethics, 2(4), 

53-59; Cooper, Z.N., Nelson, R.M., and L.F. Ross. (2004). Certificates of confidentiality in research: 

Rationale and usage. Genetic Testing, 8(2), 214-220; Hudson, K., and S. Devaney. (2008). Novel forensic 

technique highlights need for greater privacy protection for research participants [News release]. Retrieved 

from http://www.dnapolicy.org/news.release.php?action=detail&pressrelease_id=104; Lo, B., and M. Barnes. 

(2011). Protecting research participants while reducing regulatory burdens. Journal of the American Medical 

Association, 306(20), 2260-2261; Wolf, L.E., and J. Zandecki. (2006). Sleeping better at night: Investigators’ 

experiences with certificates of confidentiality. IRB, 28(6), 1-7.

164 Liang, B.A., and T. Mackey. (2011). Reforming direct-to-consumer advertising. Nature Biotechnology, 29(5), 

397-400.

165 Dissemination of Information (AHRQ), 42 USC §299c-3(c). The confidentiality statute that is part 

of AHRQ’s authorizing legislation, grounded in judicially recognized public policies intended to foster 

participation in and the conduct of research, provides a respected form of federal statutory protection for all 

identifiable data submitted to the Agency, its grantees and contractors, for research purposes and permits no 

disclosures or uses of it, other than those consented to by the suppliers of the data or by the research subjects. 

Memorandum from Susan Greene Merewitz, Senior Attorney, AHRQ to Nancy Foster, Coordinator for 

Quality Activities, AHRQ. (April 16, 2001). Statutory Confidentiality Protection of Research Data. Retrieved 

from http://www.ahrq.gov/fund/datamemo.htm. 

166 Office of Science and Technology Policy (OSTP). (2012, March 29). Obama administration unveils “Big 

Data” initiative: Announces $200 million in new R&D investments [Press release]. Retrieved from http://

www.whitehouse.gov/sites/default/files/microsites/ostp/big_data_press_release_final_2.pdf.

167 National Human Genome Research Institute (NHGRI). (2012). 1000 Genomes Project data available on 

Amazon Cloud [Press release]. Retrieved from http://www.nih.gov/news/health/mar2012/nhgri-29.htm.

168 Breach Notification for Unsecured Protected Health Information, 74 Fed. Reg. 42,740 (Aug. 24, 2009) 

(codified at 45 C.F.R. §§ 160, 164); Health Breach Notification Rule; Final Rule, 74 Fed. Reg. 42,962 (Aug. 

25, 2009) (codified at 16 C.F.R. § 318); HIPAA Administrative Simplification: Enforcement; Final Rule, 71 

Fed. Reg. 8,390 (Feb. 16, 2006) (codified at 45 C.F.R. §§ 160, 164); Standards for Privacy of Individually 

Identifiable Health Information; Final Rule, 65 Fed. Reg. 82,462 (Dec. 28, 2000) (codified at 45 C.F.R. §§ 

160, 164); Health Insurance Reform: Security Standards; Final Rule, 68 Fed. Reg. 8,334 (Feb. 20, 2003) 

(codified at 45 C.F.R. §§ 160, 162, and 164).

169 HHS. (2010). HHS Strengthens Health Information Privacy and Security through New Rules [Press Release]. 

Retrieved from http://www.hhs.gov/news/press/2010pres/07/20100708c.html; National Institutes for 

Standards and Technology (NIST). (2012). Guidelines on Security and Privacy in Public Cloud Computing. 

Retrieved from http://csrc.nist.gov/publications/nistpubs/800-144/SP800-144.pdf.
PRIVACY and PROGRESS in Whole Genome Sequencing

136

170 OHRP. (2008). Guidance on Research Involving Coded Private Information or Biological Specimens. 

October 16. Retrieved from http://www.hhs.gov/ohrp/policy/cdebiol.html.

171 Paasche-Orlow, M.K., Taylor, H.A., and F.L. Brancati. (2003). Readability standards for informed-consent 

forms as compared to actual readability. New England Journal of Medicine, 348(8), 721-726.

172 PRIM&R. (McGuire, A.L.) (2012). Data sharing in genomic research: Participant attitudes and ethical issues. 

[Webinar].

173 Kaufman, D.J., et al. (2009). Public opinion about the importance of privacy in biobank research. American 

Journal of Human Genetics, 85, 643-654.

174 The Family Educational Rights and Privacy Act (FERPA), 20 U.S.C. § 1232g; 34 C.F.R. § 99; Children’s 

Online Privacy Protection Act of 1998, 18 U.S.C. §§ 6501-6506; Parent Initiated Alternatives Act of 2005, 

HB1058- 2005-06 (Washington); Hickey, K. (2007). Minors’ rights in medical decision making. Journal of 

Nursing Administration Health Care Law, Ethics, and Regulation, 9(3), 100-104. 

175 AMA. (1996). AMA Code of Medical Ethics, Opinion 2.138: Genetic testing of children. Retrieved from 

http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/code-medical-ethics/opinion2138.

page; American Academy of Pediatrics. (2001). Ethical issues with genetic testing in pediatrics. Pediatrics, 

107(6), 1451-1455; Donley, G., Hull, S.C., and B.E. Berkman. (2012). Prenatal Whole Genome Sequencing: 

Just Because We Can, Should We? Hastings Center Report, 42(4), 28-40.

176 Gostin, L.O. (2009). Privacy: Rethinking health information technology and informed consent. In M. 

Crowley (Ed.), Connecting American Values with Health Reform. Garrison, NY: The Hastings Center, pp. 15-17.

177 Kaye, J., et al. (2012). From patients to partners: Participant-centric initiatives in biomedical research. Nature 

Reviews Genetics, 13(5), 371-376; Nietfeld, J.J., Sugarman, J., and J.E. Litton. (2011). The Bio-PIN: A concept 

to improve biobanking. Nature Reviews Cancer, 11, 303-308; Time to open up. (2012). Nature, 486, 293. 

178 Consent to Research (n.d.). About Us. Retrieved from http://weconsent.us/about.

179 Brothers, K.B., Morrison, D.R., and E.W. Clayton. (2011). Two large-scale surveys on community attitudes 

toward an opt-out biobank. American Journal of Medical Genetics, Part A, 155, 2982-2990.

180 Kaufman, D.J., et al. (2009). Public opinion about the importance of privacy in biobank research. American 

Journal of Human Genetics, 85, 643-654.

181 Valle-Mansilla, J.I., Ruiz-Canela, M., and D.P. Sulmasy. (2010). Patients’ attitudes to informed consent for 

genomic research with donated samples. Cancer Investigation, 28(7), 726-734.

182 Human Subjects Research Protections: Enhancing Protections for Research Subjects and Reducing Burden, 

Delay, and Ambiguity for Investigators, 76 Fed. Reg. 143, 44,513 (July 26, 2011).

183 Colditz, G.A. (2009). Constraints on data sharing: Experience from the Nurses’ Health Study. Epidemiology, 

20(2), 169-171.

184 One potential result of this sharing of data between physicians and researchers is the publication of findings in 

academic journals. In the interest of making data sharing an element of the scholarly publication process, some 

journals require that, if public repositories have been established for a particular type of data (including whole 

genome sequence data), all data from which results were drawn should be deposited in open access databases 

before publication. 

185 Knoppers, B., Director, Centre of Genomics and Policy, Canada Research Chair in Law and Medicine, McGill 

University. (2012). Consent and Return of Findings. Presentation to PCSBI, August 1, 2012. Retrieved from 

http://bioethics.gov/cms/node/740.

186 Johnson, E.J., and D. Goldstein. (2003). Do defaults save lives? Science, 302, 1338-1339.
137

ENDNOTES V

187 Donate Life America. (2012). 2012 National Donor Designation Report Card Released [Press Release]. 

Retrieved from http://donatelife.net/2012-national-donor-designation-report-card-released/; Goldman, R. 

(2012, May 2). States see instant spike in organ donors following Facebook push. ABC News. Retrieved from 

http://abcnews.go.com/Health/states-instant-spike-organ-donors-facebook-push/story?id=16255979.

188 Sunstein, C.R., and R.H. Thaler. (2003). Libertarian paternalism is not an oxymoron. University of Chicago 

Law Review. Retrieved from http://www.law.uchicago.edu/files/files/185.crs_.paternalism.pdf; Thaler, R.H., 

and C.R. Sunstein. (2008). Nudge: Improving Decisions About Health, Wealth, and Happiness. New Haven, CT: 

Yale University Press. 

189 Human Subjects Research Protections: Enhancing Protections for Research Subjects and Reducing Burden, 

Delay, and Ambiguity for Investigators, 76 Fed. Reg. 143, 44,513 (July 26, 2011).

190 McGuire, A.L., and L.M. Beskow. (2010). Informed consent in genomics and genetic research. Annual Review 

of Genomics and Human Genetics, 11, 361-381.

191 Bollinger, J.M., et al. (2012). Public preferences regarding the return of individual genetic research results: 

Findings from a qualitative focus group study. Genetics in Medicine, 14(4), 451-457; Murphy, J., et al. (2008). 

Public expectations for return of results from large-cohort genetic research. American Journal of Bioethics, 8(11), 

36-34; Terry, S.F., and P.F. Terry. (2011). Power to the people: Participant ownership of clinical trial data. 

Science Translational Medicine, 3(69), 1-3.

192 Murphy, J., et al. (2008). Public expectations for return of results from large-cohort genetic research. American 

Journal of Bioethics, 8(11), 36-43.

193 Maschke, K.J. (2012). Returning genetic research results: Considerations for existing no-return and future 

biobanks. Minnesota Journal of Law, Science, and Technology, 13(2), 559-573.

194 Clinical Laboratory Improvement Amendments of 1988 (CLIA), 42 U.S.C. § 263a (2006).

195 Sharp, S.E., and B.L. Elder. (2004). Competency assessment in the clinical microbiology laboratory. Clinical 

Microbiology Review, 17(3), 681-694.

196 CLIA, 42 U.S.C. § 263a (2006).

197 Hudson, K., et al. (2006). Oversight of U.S. genetic testing laboratories. Nature Biotechnology, 24(9), 1083-

1091; Ledbetter, D.H., and W.A. Faucett. (2008). Issues in genetic testing for ultra-rare diseases: Background 

and introduction. Genetics in Medicine, 10(5), 309-313.

198 Wolf, S.M. (2012). The past, present, and future of the debate over return of research results and incidental 

findings. Genetics in Medicine, 14(4), 355-357.

199 Green, R., et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical 

sequencing. Genetics in Medicine, 14(4), 1-6.

200 GARNET. (2012). GARNET Statement on Incidental Findings and Potentially Clinically Relevant Genetic 

Results. May 18. Retrieved from https://www.garnetstudy.org/sites/www/content/files/subcom/if/GARNET_

RORstatement_final.pdf.

201 Kohane, I.S., et al. (2007). Reestablishing the researcher-patient compact. Science, 316, 836-837.

202 Wolf, S.M., et al. (2012). Managing incidental findings and research results in genomic research involving 

biobanks and archived data sets. Genetics in Medicine, 14(4), 361-384.

203 Berg, J.S., Khoury, M.J., and J.P. Evans. (2011). Deploying whole genome sequencing in clinical practice and 

public health: Meeting the challenge one bin at a time. Genetics in Medicine, 13(6), 499-504.

204 Kohane, I.S., and P.L. Taylor. (2010). Multidimensional results reporting to participants in genomic studies: 

Getting it right. Science Translational Medicine, 2(37), 1-4.
PRIVACY and PROGRESS in Whole Genome Sequencing

138

205 Angrist, M. (2011). You never call, you never write: Why return of ‘omic’ results to research participants is 

both a good idea and a moral imperative. Personalized Medicine, 8(6), 651-657; Kohane, I.S., et al. (2007), op 

cit.; Terry, S., and R. Cook-Deegan. (2012, June 8). Your genome belongs to you. Health Affairs Blog. Retrieved 

from http://healthaffairs.org/blog/2012/06/08/your-genome-belongs-to-you/; Time to open up. (2012). 

Nature, 486, 293.

206 Genomics Law Report. (2011, March 11). The FDA and DTC genetic testing: Setting the 

record straight. Retrieved from http://www.genomicslawreport.com/index.php/2011/03/11/

the-fda-and-dtc-genetic-testing-setting-the-record-straight/.

207 Vorhaus, D., MacArthur, D., and L. Jostins. (2011, June 16). DTC genetic testing and the FDA: Is there an 

end in sight on regulatory uncertainty? [Blog]. Retrieved from http://www.genomesunzipped.org/2011/06/

dtc-genetic-testing-and-the-fda-is-there-an-end-in-sight-to-the-regulatory-uncertainty.php#more-3681.

208 The Commission plans to look into incidental findings in a future report.

209 Beecher, H.K. (1966). Ethics and clinical research. New England Journal of Medicine, 274(24), 1354-1360; 

Jones, J.H. (1993) Bad Blood: The Tuskegee Syphilis Experiment. New York: The Free Press; Advisory Committee 

on Human Radiation Experiments (ACHRE). (1996). Final Report of the Advisory Committee on Human 

Radiation Experiments. New York: Oxford University Press.

210 Friedman, C.P., Wong, A.K., and D. Blumenthal. (2010). Achieving a nationwide learning health system. 

Science Translational Medicine, 2(57), 1-3.

211 IOM. (2007). The Learning Health Care System: Workshop Summary (IOM Roundtable on Evidence-Based 

Medicine). Washington, DC: The National Academies Press.

212 Kass, N., Faden, R., and S. Tunis. (2012). Addressing low-risk comparative effectiveness research in proposed 

changes to U.S. federal regulations governing research. Journal of the American Medical Association, 307(15), 

1589-1590.

213 Friedman, C.P., op cit.

214 IOM. (2011). Integrating Large-scale Genomic Information into Clinical Practice: Workshop Summary. 

Washington, DC: National Academies Press; IOM. (2012). Digital Data Priorities for Continuous Learning in 

Health and Health Care: An Institute of Medicine Workshop. National Academies Press: Washington, DC; IOM. 

(2011). Digital Infrastructure for the Learning Health System: The Foundation for Continuous Improvement in 

Health and Health Care. Washington, DC: National Academies Press; Nass, S.J., Levit, L.A., and L.O. Gostin. 

(2009). Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Research. Washington, 

DC: National Academies Press.

215 President’s Council of Advisors on Science and Technology. (2010). Report to the President Realizing the Full 

Potential of Health Information Technology to Improve Health Care for Americans: The Path Forward. Retrieved 

from http://www.whitehouse.gov/sites/default/files/microsites/ostp/pcast-health-it-report.pdf. 

216 CDC. (2012). Next generation sequencing: Standardization of clinical testing (Nex-StoCT) working group. 

Retrieved from http://www.cdc.gov/osels/lspppo/Genetic_Testing_Quality_Practices/Nex-StoCT.html.

217 Kaye, J., Director of the Centre for Law, Health and Emerging Technologies, Oxford University. (2012). 

Privacy II – Control, Access and Human Genome Sequence Data. Presentation to PCSBI, February 2, 2012. 

Retrieved from http://bioethics.gov/cms/node/659.

218 Kaye, J., et al. (2012). From patients to partners: Participant-centric initiatives in biomedical research. Nature 

Reviews, 13, 371-376.

219 The Patient-Centered Outcomes Research Institute (PCORI). (2012). Retrieved from http://www.pcori.org/. 
139

ENDNOTES V

220 Wetterstrand, K.A. (n.d.). DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing 

Program Retrieved from www.genome.gov/sequencingcosts. 

221 Brothers K.B., Morrison D.R., and E.W. Clayton. (2011). Two large-scale surveys on community attitudes 

toward an opt-out biobank. American Journal of Medical Genetics Part A, 155, 2982-2990; Human Subjects 

Research Protections: Enhancing Protections for Research Subjects and Reducing Burden, Delay, and 

Ambiguity for Investigators, 76 Fed. Reg. 143, 44,513 (July 26, 2011); Kaye, J., et al., op cit; HITECH, Pub. L. 

111-5, 123 Stat. 115 (2009).

222 Battelle. (n.d.). $3.8 billion investment in Human Genome Project drove $796 billion in economic impact 

creating 310,000 jobs and launching the genomic revolution. Retrieved from http://www.battelle.org/media/

news/2011/05/11/$3.8-billion-investment-in-human-genome-project-drove-$796-billion-in-economic-impactcreating-310-000-jobs-and-launching-the-genomic-revolution.

223 Bustamante, D.D., Burchard, E.G., and F.M. De la Vega. (2011). Genomics for the world. Nature, 475, 

163-165.

224 Length of a human DNA molecule. In The Physics Factbook. Elert, G. (Ed.). Retrieved from http://

hypertextbook.com/facts/1998/StevenChen.shtml.

225 NIH. (2012). Clinical sequencing exploratory research coordinating center (U01). RFA-HG-12-008. Retrieved 

from http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-12-008.html.

226 Gimelbrant, A., et al. (2007). Widespread monoallelic expression on human autosomes. Science, 318(5853), 

1136-1140; Mardis, E.R. (2011). A decade’s perspective on DNA sequencing technology. Nature, 470, 

198-203; Lander, E. (2011). Initial impact of the sequencing of the human genome. Nature, 470, 187-197; 

Mason, C.E., and E. Onull. (2012). Faster sequencers, larger datasets, new challenges. Genome Biology, 13, 

314.

227 Choia, M., et al. (2010). Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. 

PNAS, 106, 19096-19101; Ng, S.B., et al. (2009). Targeted capture and massively parallel sequencing of 12 

human exomes. Nature, 461, 272-276. 

228 Ramos, E., and C. Rotimi. (2009). The A’s, G’s, C’s, and T’s of health disparities. BMC Medical Genomics, 2, 

29. 
PRIVACY and PROGRESS in Whole Genome Sequencing

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