**ABCs of DNA: Unraveling the Mysteries of Genetics Information for
Consumers**

**Script**

**I. Introduction**

Introduce Instructor

Introduce Participants

Introduce NN/LM

Educational objectives of class:

Participants will be able to:

-   define the basic concepts of genes, chromosomes and DNA

-   explain and understand the issues and implications surrounding
    genetic disorders and testing

-   identify and use resources for specific genetic informational needs

-   appreciate the significant ethical, legal, and social issues
    associated with genomic discoveries

Introduce agenda -- will be discussing topics of genes, chromosomes, DNA
concepts, terms, definitions, genetic consultation and testing, the
human genome project, genetic disorders, internet resources, and the
ethical, legal and social issues surrounding this topic. We'll be doing
some role playing and exploring online resources. First, we start with a
film, which is 30 minutes long, and expertly introduces the basic
concepts and acts as a review for those familiar with genetics and DNA.
The field of genetics will change everything about how we live, so
everyone needs to know something about genes and how they work.

**II. Video discussion and lecture**

Ask participants to discuss the video. What kinds of issues does it
bring to mind?

Demonstrate resources for basic information:

1.  Alphabet Soup from Genetic Alliance:

<http://www.geneticalliance.org/>

Show alphabetical listings of DiseaseInfo search, organization search,
resource repository search.

2.  Talking glossary of genetic terms from the National Human Genome
    Research Institute:

<http://www.genome.gov/10002096>

Available in Spanish

Show example such as apoptosis and click on **listen to a detailed
explanation.**

3.  DNA from the Beginning: an animated primer on the basics of DNA,
    genes and heredity.

<http://www.dnaftb.org/dnaftb/>

Show each module and the animations, clips and bios available.

4.  NOVA Online: Cracking the Code of Life Video

<http://www.pbs.org/wgbh/nova/genome/program.html>

Show chapters available and beginning of instructions for a human being.

**III. Genetic consultation and testing**

Unlike our parents, people today have the option of genetic testing.
These tests identify the likelihood of passing certain genetic diseases
or disorders (those caused by a defect in the genes) to your children.
If a person's history suggests that genetic testing would be helpful,
they may be referred to a genetic counselor. Or, you might decide to
seek out genetic counseling yourself. Genetic counseling is the process
of:

-   evaluating family history and medical records

-   ordering genetic tests

-   evaluating the results of this investigation

-   helping parents understand and reach decisions about what to do next

Genetic tests are done by analyzing small samples of blood or body
tissues. They determine whether you, your partner, or your baby carry
genes for certain inherited disorders.

Genetic tests don\'t yield easy-to-understand results. They can reveal
the presence, absence, or malformation of genes or chromosomes.
Deciphering what these complex tests mean is where a genetic counselor
comes in.

Genetic counselors are professionals who have completed a master\'s
program in medical genetics and counseling skills. They then pass a
certification exam administered by the American Board of Genetic
Counseling. Genetic counselors can help identify and interpret the risks
of an inherited disorder, explain inheritance patterns, suggest testing,
and lay out possible scenarios. (They refer you to a doctor or a
laboratory for the actual tests.) They will explain the meaning of the
medical science involved, provide support, and address any emotional
issues often raised by the results of the genetic testing.

Most couples planning a pregnancy or who are expecting don\'t need
genetic counseling. About 3% of babies are born with birth defects each
year, according to the U.S. Centers for Disease Control and Prevention -
and of the malformations that do occur, the most common are also among
the most treatable. Cleft palate and clubfoot, two of the more common
birth defects, can be surgically repaired, as can many heart
malformations.

The best time to seek genetic counseling is before becoming pregnant,
when a counselor can help assess your risk factors. But even after you
become pregnant, a meeting with a genetic counselor can still be
helpful. For example, several babies have been diagnosed with Spina
Bifida before birth. Recent research suggests that delivering a baby
with Spina Bifida via cesarean section (avoiding the trauma of travel
through the birth canal) can minimize damage to the baby\'s spine - and
perhaps reduce the likelihood that the child will need a wheelchair.

Individuals should consider genetic counseling if any of the following
risk factors apply:

-   if a standard prenatal screening test (such as the alpha fetoprotein
    test) yields an abnormal result

-   if an amniocentesis yields an unexpected result (such as a
    chromosomal defect in the unborn baby)

-   if either parent or a close relative has an inherited disease or
    birth defect

-   if either parent already has children with birth defects or genetic
    disorders

-   if the mother-to-be has had two or more miscarriages or babies that
    died in infancy

-   if the mother-to-be will be 35 or older when the baby is born
    (Chances of having a child with Down syndrome increase with the
    mother\'s age: a 35-year-old woman has a one in 350 chance of
    conceiving a child with Down syndrome. This chance increases to one
    in 110 by age 40 and one in 30 by age 45.)

-   if parents are concerned about genetic defects that occur frequently
    in their ethnic or racial group (For example, couples of African
    descent are most at risk for having a child with sickle cell anemia;
    couples of central or eastern European Jewish (Ashekenazi), Cajun,
    or Irish descent may be carriers of Tay-Sachs disease; and couples
    of Italian, Greek, or Middle Eastern descent may carry the gene for
    thalassemia, a red blood cell disorder.)

(Taken from kidshealth.org, genetic counseling section)

Consumers may ask about genetic counseling or consultation services.
There are some excellent resources for locating basic information on
these services and finding counselors and information on gene tests
available.

1.  Genetics Home Reference -- Genetic Consultation

<http://ghr.nlm.nih.gov/info=consultation>

Covers what it is, who might have it and what happens during a genetic
consultation. Show links to finding a counselor from National Society of
Genetic Counselors and other specialists, demonstrate searches.

2.  GeneTests:

[http://www.genetests.org](http://www.genetests.org/)

This is a publicly funded medical genetics information resource for
healthcare providers and researchers, but anyone can use it. It promotes
the appropriate use of genetic services in patient care and personal
decision making. It contains Gene Reviews, which are expert-authored,
peer-reviewed, current disease descriptions that apply genetic testing
to the diagnosis, management, and genetic counseling of patients and
families with specific inherited conditions. It also offers laboratory
and clinic directories and educational materials, including an
illustrated glossary and PowerPoint presentations. By special request,
summary reports of certain aggregate testing and laboratory data are
available. Examples of such reports include:

-   The number of laboratories offering testing for specific diseases
    and the methodologies used

-   Lists of diseases in the database for which testing is available

-   Gene, locus, and product information for each disease in the
    database

A formal request process, including written documentation of the purpose
of the request and agreement to comply with the GeneTests copyright
agreement and citation guidelines, is required.

Web site users can also see the top 10 most frequently viewed entries
for the past 30 days.

**IV. Human Genome Project**

What is the HGP? Formally, it began in 1990 as an international effort
that was intended to last for 15 years, but rapid technological
advancements accelerated the completion to 2003. The goals of the
project were to determine the complete sequence of the 3 billion DNA
subunits (bases), identify all human genes, and make them accessible for
further biological study. The Department of Energy\'s Human Genome
Program and the National Institutes of Health\'s National Human Genome
Research Institute (NHGRI) together sponsored the U.S. Human Genome
Project. A high-quality, \"finished\" sequence of the human genome was
completed in 2003. In- depth analyses of complete chromosomes continue
to be published. Completing the genome sequence is just the first step.

The working draft DNA sequence and the more polished 2003 version
represent an enormous achievement, akin in scientific importance, some
say, to developing the periodic table of elements. And, as in most major
scientific advances, much work remains to realize the full potential of
the accomplishment. Deriving meaningful knowledge from DNA sequence will
define biological research through the coming decades and require the
expertise and creativity of teams of biologists, chemists, engineers,
and computational scientists, among others.

The DNA sequences announced in 2003 were only rough drafts for each
human chromosome. While this draft has already speeded up medical
research, more detail was needed. The draft genomic sequences can be
compared broadly to a cross-country road excavated by a bulldozer, which
leaves behind many gaps across difficult terrain that will require
bridges and other refinements.

-   So, too, with charting the landscape of the human genome.
    Researchers have now filled in the gaps and provided far more detail
    for each chromosome. Much of this was accomplished by comparing
    particular DNA sequences across populations in genomic areas that
    may have contained anomalies in the initial samples. For example,
    some DNA segments have proven unstable during the process of copying
    them (cloning) for use in sequencing machines. Correction of minor
    errors (estimated at 1 error in every 10,000 DNA subunits) and
    cataloging of mutations will continue for some time to come. The
    lists of what is not known is still long and includes:

-   Gene number, exact locations, and functions

-   Gene regulation

-   DNA sequence organization

-   Chromosomal structure and organization

There are some great resources for more information on the HGP:

1.  National Human Genome Research Institute:

[http://www.genome.gov](http://www.genome.gov/)

Information about intellectual property and the human genome is
available. Approximately one quarter of the genes in the human genome
have patents associated with it. Patents are extremely valuable to those
developing products based on genetic discoveries. They are issued to
encourage innovation, and provide protection to allow those investing in
genetic research the opportunity to maximize the profit from their
investment. However, when patents limit the use of basic genetic
information, they threaten to inhibit or limit biomedical research.
There are concerns that the large number of patents associated with the
human genome will limit the integration of personalized medicine into
health care either because of restrictive patents or prohibitive costs.
Central to the debate over the patenting of genetic discoveries is the
question of what criteria should determine whether a discovery is
patentable. Are genes part of our collective heritage that should not be
patentable at all? Alternatively, if genetic discoveries are patentable,
how should a legitimate discovery be defined? Should the isolation and
purification of genes from their natural state be a sufficient basis for
a patent, or should the applicant be required to demonstrate a use for
the discovery?

The United States Patent and Trademark Office (USPTO), the agency that
issues patents in the United States, has developed guidelines on the
patenting of genetic discoveries. The current guidelines state that
identification of a gene\'s sequence alone is not patentable, but that a
gene isolated from its natural state may be patentable if the applicants
can demonstrate \"specific, substantial and credible utility\" for the
discovery.

Also on this web site, are the published papers from Nature's supplement
issue on the topic, which includes the complete and comprehensive DNA
sequence and commentary. Much more information is there on research,
genetics FAQ, policy and educational resources.

2.  Human Genome Resources: NCBI (National Center for Biotechnology
    Information):

<http://www.ncbi.nlm.nih.gov/About/human/index.html>

Guide to online resources provides access to the resources used by NCBI
scientists to piece together and analyze the human genome is provided
and a link to NCBI genome analysis pipeline, which provides a
description of genomic sequence assembly and annotation process. This
resource is really only for the sophisticated consumer.

3.  <http://www.cnn.com/SPECIALS/2000/genome/story/overview/>

An overview news item that explains the race to map the human genome and
its implications.

**\<\<BREAK -- 10 minutes\>\>**

**V. Genetic Disorders and Mapping**

The best place to start is Genetics Home Reference to locate information
on specific genetic disorders. GHR was developed to bridge the clinical
questions of consumers, who are increasingly using the Internet to find
health information, including info about genetic disorders, and the rich
technical data emerging from the Human Genome Project. The Project has
amplified the public's interest in genetics and accelerated the pace of
identifying disease-causing genes. Prior to GHR, online genetics
resources addressed the needs of researchers and genetics professionals,
specifically the **OMIM** (the Online Mendelian Inheritance in Man),
which is a catalog of human genes and genetic disorders containing
textual information and references and links to MEDLINE and sequence
records in the Entrez system, and links to additional related resources
at NCBI and elsewhere; **GeneReviews,** which are expert-authored,
peer-reviewed, current disease descriptions that apply genetic testing
to the diagnosis, management, and genetic counseling of patients and
families with specific inherited conditions, and **EntrezGene**, a
searchable database of genes themselves.

GHR was launched in April 2003. It currently provides summaries for 184
genetic conditions, 289 genes, and all human chromosomes. It also
provides a glossary and an illustrated tutorial called the Help Me
Understand Genetics Handbook, of which a copy is provided in your
notebook. GHR also links to 103 MedlinePlus Health Topics. These
statistics are current as of Feb. 2006. The site traffic for 2005:
approximately 4400 visitors daily and 3.3 million hits/month.

Several strategies are used for topic selection:

-   MedlinePlus Health Topics

-   Genetics and Rare Diseases (GARD) Information Center -- top 20
    requests

-   Federal initiatives (e.g. newborn screening)

-   Failed search results on GHR, and

-   Suggestions from expert reviewers and users

Content is monitored to ensure accuracy and currency; topics are
comprehensively reviewed annually, with an internal and external review
and new topics are added regularly. Let's take a look at GHR.

1.  GHR -- [http://ghr.nlm.nih.gov](http://ghr.nlm.nih.gov/)

Home Page:

What's New section very helpful for regular GHR users.

Browse tab includes synonyms and helpful for users unsure of spelling of
topic of interest

Handbook has 7 chapters, table of contents, illustrations and a pdf
option

Glossary contains synonyms and definitions, with links to the source of
these definitions

Resources provides two categories of information on web resources, one
for general interest and one to resources for patients, families,
researchers and health professionals

The About section explains what is in the database, how topics are
selected, links to reviewers and staff, and how to link to GHR from your
web site.

The search box is for topics not found on GHR, such as anthrax or
locating information within the site. The search results provide
suggestions on locating the topic not found.

The Browse section in the middle of the home page contains a link to
genetic conditions, which provides summaries of genetic conditions.

**VI. Demonstration and Online Exploration/Practice**

For an example, let's browse by clicking on **Browse Conditions, then
select T, then select Tay-Sachs Disease**. The Q & A format provides a
description of the disorder, prevalence/incidence, genetic cause, and
inheritance pattern (diagnosis and treatment are not included). A print
version is available from the icon in the left margin. Resources are in
the left margin and the body of the text, with a wide spectrum of
information from lay-friendly to technical, and under the question, What
if I still have specific questions about...The gene or genes involved
with the condition are listed with a link and more information about the
gene. Learning aids include links to glossary terms and areas of the
handbook with further information. The dates at the bottom include the
published date and the last date of comprehensive review.

Also in the middle section of the home page is a link to Genes. Gene
summaries are available that include:

-   the official name and symbol, as determined by the Hugo Gene
    Nomenclature Committee (HGNC)

-   the importance of normal function, since we all have the gene

-   the mutation field explains how mutations affect normal function

-   the gene's location and ideogram (a graphical symbol that represents
    an idea. Example: wayfinding signage in airport)

-   resources, different from condition summary

-   learning aids, which again include glossary terms and handbook links

The Chromosomes link in the center of the home page contains:

-   an overview for each chromosome with links to tables of identified
    genes and conditions for the chromosome

-   chromosomal disorders with an explanation of changes in chromosome
    number or structure that cause disorders

-   links to condition summaries

-   chromosome ideogram

-   resources including chromosome-specific databases and web sites,
    information on chromosome abnormalities

-   learning aids including glossary terms and handbook links

2.  Genetics Disorders and Birth Defects -- Indiana University School of
    Medicine:
    [http://geneinfo.medlilb.iupui.edu](http://geneinfo.medlilb.iupui.edu/)

Information on this site is provided by the Genetic Disorders & Birth
Defects Information Center, Ruth Lilly Medical Library, Indiana
University School of Medicine. It has sections on genetic overview,
specific disorders, birth defects, genetics of common diseases, and
genetic counseling and testing. The links on the left margin are for
specific users of the site and further link to organizations and sources
of more information. Let's **click on Specific Genetic Disorders and
scroll to Sickle Cell and select.**

Explore any of these sites on your own for a few minutes and then we
will discuss the ethical, legal and social issues surrounding genetics.
Ask if anyone had comments on what they found

**\<FAMILY HEALTH HISTORY EXERCISE\>**

**VII. Ethical, Legal and Social Issues**

Advocates and detractors have become increasingly vocal with
developments in genetic research. They openly acknowledge the profound
social divisions and political upheavals likely to result. Let me start
this discussion by offering you a few quotes:

**\"Some will hate it, some will love it,** but biotechnology is
inevitably leading to a world in which plants, animals and human beings
are going to be partly man-made....Suppose parents could add 30 points
to their children\'s IQ. Wouldn\'t you want to do it? And if you don\'t,
your child will be the stupidest child in the neighborhood.\"

  ------ ----------------------------------------------------------------
         Lester Thurow, Professor of Economics and Management,
         Massachusetts Institute of Technology, *Creating Wealth: The New
         Rules for Individuals, Companies and Nations in a
         Knowledge-Based Economy* (New York: Harper Collins, 1999), page
         33

  ------ ----------------------------------------------------------------

**\"\[W\]ould not the creation of two different categories of people,
those born the way they are and those whose genes have been manipulated
and supposedly \"improved,\" seriously undermine the notions of liberty
and equality** we so highly prize and, by the same token, the very
foundations on which democracy and human rights are built? What would it
mean for democracy, for a society that calls itself civilized, if the
equality of all human beings were no longer recognized as sacrosanct?\"

  ------ -----------------------------------------------------------------------------------------
         Joschka Fischer, Federal Minister for Foreign Affairs,\
         Franco-German Forum \"Towards a Global Bioethic?\", Berlin (June 3, 2002)\
         [Resources \>\> Items \>\> \"Towards a Global
         Bioethic?\"](http://www.genetics-and-society.org/resources/items/20020603_fischer.html)

  ------ -----------------------------------------------------------------------------------------

And what of discrimination? There are now genetic tests for more than
500 disorders. Fears that health insurers and employers will use an
individual's genetic makeup to deny them jobs or insurance coverage keep
many people from benefiting from this emerging technology. Current
federal and state laws provide only a patchwork of protections that do
not fully assure patients that their genetic information will be secure.
The Senate took a critical step forward in helping patients take
advantage of America\'s advancing medical technologies when they
unanimously passed the Genetic Information Nondiscrimination Act in 2003
and again in 2005. This bill establishes comprehensive federal standards
to protect the privacy of genetic information and prohibit genetic
discrimination in health insurance and in the workplace. But how much
protection does this offer? What about the potential for hackers to
obtain private information about your genetic makeup?

A possible scenario runs like this. In the next few years researchers
will identify and locate most, if not all, genes in the human
[genome](http://www.meta-library.net/biogloss/genom-body.html) that
either condition or in some cases cause disease. Already we know that
the gene for [Cystic
Fibrosis](http://www.meta-library.net/biogloss/cystic-body.html) is
found on
[chromosome](http://www.meta-library.net/biogloss/chrom-body.html) 7 and
the gene for [Huntington's
disease](http://www.meta-library.net/biogloss/hunt-body.html) on
chromosome 4.
[Alzheimer](http://www.meta-library.net/biogloss/alz-body.html)'s
disease is probably due to a defective gene on chromosome 21, and
certain incidences of colon cancer to one on chromosome 2. Disposition
to [muscular
dystrophy](http://www.meta-library.net/biogloss/muscdyst-body.html),
[sickle-cell
anemia](http://www.meta-library.net/biogloss/sickle-body.html),
[Tay-Sachs](http://www.meta-library.net/biogloss/tays-body.html)
disease, certain cancers and numerous other diseases also have locatable
genetic origins. More knowledge is yet to come. When it comes, it may be
accompanied by an inexpensive method for testing the genome of each
individual to see if he or she has any genes for any diseases. Screening
for all genetic diseases may become routine for newborns, just as
testing for
[phenylketonuria](http://www.meta-library.net/biogloss/pku-body.html)
(PKU) has been since the 1960s. A person's individual genome would
become part of a data bank to which each of us, as well as our health
care providers, would have future access. The advantage is clear: 
medical care from birth to grave could be carefully planned to delay
onset, appropriately treat, and perhaps even cure genetically based
diseases.

This is an unlikely scenario, however. As good as it may sound, the
specter of genetic discrimination may slow it down, if not retard it
completely. Any grand plan to employ new genetic knowledge for
preventive health care for Americans is likely to be impeded, if not
blocked entirely, by the U.S. system of financing medical care through
commercial insurance. The problem begins with insurability, and may end
up in a form of discrimination that for genetic reasons prevents certain
individuals from obtaining employment and, hence, medical services. Even
with a government regulated program of access to basic health services,
the need to purchase supplemental insurance to cover serious diseases
makes many of us with certain genetic configurations vulnerable to
discrimination.

Insurance works by sharing risk. When risk is uncertain to all, then all
can be asked to contribute equally to the insurance pool. Premiums can
be equalized. Once the genetic disorders of individuals become known,
however, this could justify higher premiums for those demonstrating
greater risk. The greater the risk, the higher the premium. Insurance
may even be denied those whose genes predict extended or expensive
medical treatment.![](media/image1.png){width="0.11388888888888889in"
height="0.1673611111111111in"}

For three-quarters of Americans, medical insurance is tied to
employment. Among the Fortune 500, twelve companies already report using
[genetic
screening](http://www.meta-library.net/intro/techndna-body.html) for
employment purposes. Although screening in the past was justified
initially for public health purposes, employers may increasingly be
motivated to use screening to cut premium costs for the medical
insurance they pay on behalf of employees. Underwriters already deny or
limit coverage to some gene-related conditions such as sickle-cell
anemia, atherosclerosis, Huntington's disease, Down's syndrome, and
muscular dystrophy.![](media/image1.png){width="0.11388888888888889in"
height="0.1673611111111111in"}This list could increase.. Between thirty
to forty million persons in the United States currently live with
insufficient or no medical coverage; and, despite its promises for a
better life, [HGP](http://www.meta-library.net/biogloss/hgp-body.html)
could inadvertently add a whole new class of poor and uninsured people.

What are your thoughts? **Discussion.**

**If time, explore web sites listed under Social, Legal, Ethical of
handout.**

**\<\<BREAK -- 10 minutes\>\>**

**VIII. Case Studies and Role Playing**

Break class into groups of 3 or 4. If smaller, divide accordingly.

Consumer/patron question scenarios:

1.  A man and his pregnant wife come to the desk. They are thinking of
    genetically testing the baby and need more information on this type
    of testing and whether insurance will cover the cost.

2.  My doctor says I have Hereditary Breast Cancer 2. What is it and
    what can I do about it? What gene is responsible?

3.  A teen tells you that he thinks his mother drank alcohol while she
    was pregnant with him and wants information on Fetal Alcohol
    Syndrome and its symptoms.

4.  A college student is doing a paper on stem cell research and wants
    some good web resources on the pros and cons of the research.

5.  My doctor says I have a syndrome that results from the accumulation
    of copper in my tissues and I can't remember the name of the
    disease. Can you help me?

**IX. Exercises**

1)  Find a concise summary of genes pertaining to circadian rhythms.

2)  What are the components of genetic newborn screening?

3)  What laws protect people from being discriminated against because of
    a genetic disorder?

4)  A resident of Charlotte, NC needs the name of a local genetic
    counselor.

5)  What is premutation Fragile X Syndrome?

6)  Where can a consumer get an enzyme assay test for Hexosaminidase A
    Deficiency for Tay-Sachs disease in Washington, D.C.?

**Wrap-up and Evaluation**