[Federal Register Volume 67, Number 57 (Monday, March 25, 2002)]
[Notices]
[Pages 13635-13638]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 02-7056]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES


Secretary's Advisory Committee on Genetic Testing; Request for 
Public Comment

AGENCY: Office of the Secretary, DHHS.

ACTION: Request for public comment on a draft information brochure on 
genetic tests for the general public.

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SUMMARY: The Secretary's Advisory Committee on Genetic Testing (SACGT) 
is seeking public comment on a draft information brochure entitled 
Genetic Testing: Some Basic Questions and Answers. The content of the 
brochure is reproduced below. The brochure's objective is to provide an 
overview of genetic tests and to outline some questions to consider 
about having a genetic test. Its target audience is the general public.

DATES: The public is encouraged to provide written comments on the 
draft brochure by April 19, 2002. Comments may be sent by mail (SACGT, 
National Institutes of Health, Office of Biotechnology Activities, 6705 
Rockledge Drive, Suite 750, Bethesda, Maryland 20892), facsimile (301-
496-9839), or email ([email protected]). All public comments received will 
be available for public inspection at the SACGT office between the 
hours of 8:30 a.m. and 5:00 p.m.

FOR FURTHER INFORMATION CONTACT: Questions about this request can be 
directed to Ms. Sarah Carr, SACGT Executive Secretary, by e-mail, 
[email protected], or telephone (301-496-9838). The draft brochure also 
will be posted on SACGT's website for review and comment.

SUPPLEMENTARY INFORMATION:
    Ensuring the appropriate use of genetic tests is an important 
challenge, requiring dedicated efforts on several fronts, including 
public education. A well-informed public will have a basic 
understanding about the benefits, risks, and implications of genetic 
tests and, should the situation arise, will know what questions to ask 
to make an informed decision about whether to have a genetic test. 
SACGT has developed the following draft information brochure, Genetic 
Testing: Some Basic Questions and Answers, to help inform the general 
public about genetic tests and to suggest the type of questions they 
should consider asking if they are faced with a decision about whether 
to have a genetic test.
    Using a question and answer format, the brochure explains what 
genetic tests are, the different purposes for which they are used, how 
they are similar to and different from other medical tests, and some of 
their limitations and possible outcomes (potential benefits and risks); 
addresses insurance policy implications, privacy, confidentiality, and 
discrimination; provides informational and services resources; and 
outlines questions to ask oneself and one's healthcare provider when 
considering a genetic test. The brochure does not provide information 
about specific genetic tests nor is it intended for patients or 
consumers who have had experience with genetic testing.
    SACGT is seeking comments on the content, readability, and utility 
of the brochure and strategies for dissemination. In particular, SACGT 
would appreciate responses to the following specific questions:

    1. Is the document useful? How might you use such a brochure?
    2. Is the content appropriate and complete? Is it understandable 
and written at the appropriate reading level? Are there other issues 
that should be addressed? Are there other questions that should be 
included?
    3. Is the tone of the brochure appropriate? Is it culturally 
appropriate to a wide range of groups?
    4. Should the brochure be produced in other languages and, if so, 
which languages?
    5. To whom and how should this brochure be disseminated?
    6. Should the brochure serve as a model for the development of more 
specific test information brochures? Who should be tasked with 
developing such brochures? Is this an appropriate role for SACGT? 
Should SACGT recommend that HHS support the development of test-
specific information brochures?

[[Page 13636]]

Draft Brochure

Genetic Testing: Some Basic Questions & Answers

    Genetic tests have been available for a number of years, but more 
tests are becoming available and are being offered as part of medical 
care. At some point in the future, you may face a decision about 
whether to have a genetic test.
    Genetic tests are like other medical tests in many ways, but they 
have some important differences and issues to consider. This brochure 
provides some basic information about genetic testing and highlights 
the kinds of questions you may want to ask.
What is a Genetic test?
    (To include diagram of chromosomes, genes, gene products)
    Our genetic information is contained in structures called 
chromosomes that are made up of a chemical called DNA. Chromosomes are 
made up of smaller units called genes. There are 23 pairs of 
chromosomes, one set from our father and one from our mother. Genes 
contain the information about how our bodies are put together and 
function. It may help to think of the chromosome as a necklace and 
genes as beads on the necklace.
    Genetic tests usually involve having blood drawn to look for 
changes in DNA, genes, gene products, or chromosomes. Some changes, 
such as those that cause certain cancers, develop during one's 
lifetime, possibly through environmental factors like sun exposure. 
Other changes can be inherited from one or both parents and passed on 
to children.
What Are the Different Types of Genetic Tests?
Diagnostic tests are used to diagnose a medical condition in 
people who have symptoms or health problems. Diagnostic tests can also 
be used to figure out the best course of treatment or how a medical 
condition might progress over time.
Predictive tests are used to tell whether healthy people are at 
higher risk of developing a particular medical condition later in life.
Pharmacogenetic tests are used to tell how genetic makeup may 
affect a person's reaction to specific medicines. This type of test may 
help healthcare providers prescribe the most effective drugs with the 
fewest side effects.
Newborn screening tests are done when babies are born to tell 
whether they have certain genetic diseases. These are diseases that can 
be treated if they are found early enough. By state law or rules, all 
babies are screened unless the parents decline testing.
Carrier tests are used to tell whether healthy people have one 
copy of a genetic change that puts their children (but not them) at 
higher risk for having a genetic condition.
Prenatal tests diagnose genetic conditions in pregnancy.
Are Genetic Tests Different From Other Medical Tests?
    Genetic tests are similar to other medical tests, but there are a 
couple of important differences to keep in mind. Medical tests 
generally provide information only about the person being tested. 
Genetic test results can provide information for the health or life 
decisions of other family members as well.
    Medical tests usually look for a current health condition. 
Predictive genetic tests, on the other hand, are done when people are 
healthy to see whether they are at higher risk of developing a 
particular disease in the future.
    Unlike most other medical tests, genetic education and counseling 
may be provided for some genetic tests to be sure that patients 
understand the test, the potential results, and issues to consider.
What Are Some Limitations of Genetic Testing?
    Like other medical tests, genetic tests have limitations, and they 
differ depending on the type of genetic test. For example, predictive 
genetic tests do not give ``yes'' or ``no'' answers about whether you 
will develop a specific disease. Instead, they tell you what your 
chances might be of developing a medical condition. They do not 
establish for sure that you will develop the condition or how the 
condition will affect you.
    A genetic test does not test for all genetic conditions. Rather, a 
genetic test is done for a specific genetic condition or group of 
genetic conditions. In addition, for some diseases, a genetic test may 
not detect all changes that cause a specific condition. If the test 
does not find a change, you could still have or be at risk for that 
condition or be at risk for having children with that condition. For 
some tests, a family member with the condition may need to be tested to 
identify the genetic change before other family members who may be at 
risk can be tested.
    Your healthcare provider, genetic specialist, or a testing 
laboratory can provide more information about test limitations. Over 
time, additional research may reduce some of the current uncertainties 
with genetic tests.
What Are Some of the Risks and Benefits of Having a Genetic Test?
    Each genetic test has different risks and benefits. In general, the 
risks of genetic tests are not physical, since they mostly involve 
routine procedures, such as drawing blood or swabbing a cheek. Instead, 
the benefits and risks have more to do with how prepared you and your 
family are to learn the results. Learning that you may be at higher 
risk for a disease, for example, may be difficult to handle 
emotionally. On the other hand, the knowledge may help you plan 
preventive measures or make better decisions about the future. 
Likewise, you may learn that you are healthy, but members of your 
family have a higher likelihood of disease. For these reasons, it is 
important to weigh carefully the possible positive and negative 
outcomes before deciding whether or not to have a genetic test.
Possible Benefits of Genetic Testing
You may learn information that is important for your healthcare.
    You may learn that you have or are at risk for a medical 
condition. The results of genetic testing may be useful for diagnosing 
a medical condition or predicting risks for conditions. The results may 
help predict the course of the disease or determine a treatment plan, 
screening options, or prevention strategies. Results of genetic tests 
could also be important for family members if they are at risk for the 
same medical condition.
    You may learn that you are not at increased risk for a medical 
condition. Such information may give peace of mind. However, many 
conditions are caused by your environment, diet, or behavior, as well 
as genetics. You may still face the same odds of getting such a 
condition as the population at large.
    You may learn that you are a carrier for a medical condition. 
You may have a disease-causing gene but not have the condition 
yourself. If your partner is a carrier too, you could have children 
with the genetic condition. If you find out that you are a carrier, 
your partner may want to be tested prior to having children to see if 
he or she is also a carrier. If you are a carrier of a genetic 
condition, your relatives may be carriers too, and they may also want 
to be tested.
     You may learn information that could be useful for future 
decision

[[Page 13637]]

making.
    Finding out whether you have, or are at risk for, a particular 
genetic condition may be important information for your life decisions. 
If you decide to have children, you may want to undergo prenatal 
testing or prepare for a child with special needs. The results of a 
genetic test may also have an impact on your financial planning, career 
choices, and lifestyle.
     Test results may provide relief and reduce anxiety and 
uncertainty about the future.
    Finding out that you are not at risk for a particular medical 
condition can bring a sense of relief and peace of mind. Sometimes, 
even people who learn that they have, or may develop, a genetic 
condition feel less anxious after learning their test results. They may 
experience more anxiety from ``not knowing'' than ``knowing'' their 
risk. For others, the reverse may be true.
Potential Risks of Genetic Testing
 You may learn information that can be difficult to handle.
    Coping with the knowledge from genetic tests may be difficult. It 
is particularly hard if there is no treatment or cure for the medical 
condition or if the condition may not develop until later in life. It 
is not unusual for people to feel sad, angry, confused, or anxious. 
Talking these feelings over with your healthcare provider or a genetics 
specialist may help. You may also find support from therapists, 
religious leaders, your friends and family, and patient/consumer 
advocacy or support groups (listed under ``Informational Resources'').
 Family dynamics may change.
    Genetic conditions may affect family members in different ways. 
Sharing medical information in a family and addressing feelings can 
sometimes be difficult and may change how family members relate to each 
other. It is important to keep in mind that there are supportive 
resources (some of which are listed below) that can help.
 The result may not be clear or uncertain.
    There are limitations to today's testing technology. Sometimes a 
test may not produce a definite result. At other times, the meaning of 
a test result may not be known. Even after having a genetic test, you 
may not learn anything new or may be left with uncertainty about what a 
result means. Of course, the field of genetic testing is changing, so 
tests will become more refined over time.
 You may be at risk for insurance or employment discrimination.
    People are often concerned that the results of genetic tests could 
be used by insurers to deny coverage or increase the cost of insurance. 
They also worry that employers might use the test results in hiring and 
promotion decisions. The way insurers use test results generally 
depends on the type of plan you have, such as whether it is individual 
or group coverage. There are some protections to help prevent such 
discrimination, and they are discussed in the next section.
Can the Results of Genetic Testing Affect Insurance Coverage or 
Employment?
    Some states prohibit employers from using genetic information in 
hiring and promotion decisions. Some prohibit health insurers from 
increasing fees or denying coverage based on genetic information. There 
are also significant differences among states in the level of 
protection. In other words, the results of genetic tests could affect 
your coverage depending on the type of insurance you have, whether or 
not you have symptoms, and the state in which you live. You can find 
out about your state's laws by contacting the National Conference of 
State Legislatures at 303-830-2200 or www.ncsl.org. The National Human 
Genome Research Institute also posts information about current state 
laws, as well as information about federal efforts, at: http://www.nhgri.nih.gov/Policy_and_public_affairs/Legislation/
Will Test Results Be Kept Confidential?
    Your medical records, including genetic test results, are 
confidential. Test results can only be released with your permission or 
unless specifically required by law. The terms of most health insurance 
policies give the insurance company access to your medical information, 
especially if you request insurance coverage of genetic testing. 
However, many companies have policies stating that your health 
information will not be shared without your consent. You have the right 
to see the information in your medical records.
Will Insurance Cover the Cost of Genetic Testing?
    Insurance coverage for genetic testing will depend on the type of 
insurance you have and the indication for testing. Genetic tests can 
cost more than other tests because they can take longer to perform and 
the techniques are more complex. If your insurance does not cover the 
cost of genetic testing, you may have to pay out-of-pocket. Find out 
about the cost of the test and insurance coverage before having the 
test done.
Where Can I Find More Information About Genetic Disorders or Genetic 
Testing?
    Patient and consumer advocacy or support groups can help you obtain 
information about genetics and specific genetic conditions. They can 
also help you make connections with people facing similar issues. In 
addition, many government agencies have helpful resources.

Informational Resources

 Genetic Alliance, Toll free number: 800-336-4363. 
(www.geneticalliance.org).
 Genetics Education Center, (www.kumc.edu/gec/).
 ``GeneTests'', (http://www.genetests.org/).
 March of Dimes, Toll free number: 888-663-4637. 
(www.modimes.org).
 National Human Genome Research Institute, (http://www.nhgri.nih.gov/Policy_and_public_affairs/Communications/Patients_and_families/).
 National Newborn Screening and Genetics Resources Center, 
(www.genes-r-us.uthscsa.edu).
 National Organization for Rare Disorders, Toll free number: 800-
999-6673. (www.rarediseases.org).
 Office of Rare Diseases, National Institutes of Health, (http://rarediseases.info.nih.gov/ord/).
 Office of Genetics and Disease Prevention, Centers for Disease 
Control and Prevention, (http://www.cdc.gov/genetics/default.htm).
 U.S. Department of Energy, (http://www.ornl.gov/hgmis/medicine/genetest.html).
    Genetics clinics provide care, information and support for 
individuals who have, or are at risk for, a genetic condition.
    To locate genetic services, you can:
 Ask your healthcare provider
 Contact your local medical center/hospital and ask if there are 
genetic services
 Contact your state department of public health and request 
information on genetic services
 Contact the National Society of Genetic Counselors (610-872-7608) 
www.nsgc.org
 Contact the Genetic Alliance (toll free: 800-336-4363) 
www.geneticalliance.org
 Contact your local March of Dimes chapter (888-663-4637) 
www.modimes.org
 For cancer genetics specialists, contact the National Cancer 
Institute (toll free: 800-422-6237) www.nci.nih.gov

[[Page 13638]]

To Be Placed at the End of the Document as a Tear-Out Page

Questions to Ask About Genetic Testing

    Below are some questions you can ask yourself and your healthcare 
provider as you consider genetic testing. Many of these same questions 
could be asked about any medical test. There may not be answers to all 
of these questions and some of the answers may change as our knowledge 
about genetic testing grows.
Questions to Ask Yourself
{time}  Do I know what type of genetic test is being offered?
{time}  Will the test results be helpful to me? Do I want to know this 
information?
{time}  What might I do differently if I have the results?
    {time}  Will I make changes in my healthcare based on the results?
    {time}  Will I make changes in my life decisions (e.g. children, 
finances, career choice) based on the results?
{time}  Is this a good time in my life for me to have the genetic test?
{time}  What will my reactions be when receiving the genetic test 
results?
{time}  Do I have the support that I may need or people who I can talk 
to, if needed?
{time}  Have I given myself enough time to explore these issues?
{time}  Do I have all the information I need to make a decision about 
genetic testing? Have all my questions been answered?
Questions to Ask Your Healthcare Provider
{time}  Specific genetic test and purpose: What genetic test(s) will be 
done? What is the purpose of doing the genetic test? Why is the genetic 
test recommended?
{time}  Test accuracy & limitations: How accurate is the genetic test? 
What are the limitations of the genetic test? How well does the test 
diagnose or predict the medical condition? Does the laboratory where 
the test will be performed have the appropriate certification?
{time}  Benefits & risks: What are the benefits and risks of being 
tested? Of not being tested?
{time}  Result interpretation: What are the possible test outcomes and 
what will the results mean?
{time}  Communication of results: When can I expect to receive my test 
results? How will results be communicated to me?
{time}  Medical care: What are the signs and symptoms of this 
condition? Are there medical treatments or preventive options available 
for the condition? Would options change depending on the test results? 
What would my options be if I decide not to be tested?
{time}  Insurance issues: What is the cost of the genetic test(s)? Will 
my insurance cover the cost? Will the results of genetic testing affect 
my insurance rates, coverage or my ability to obtain insurance?
{time}  Confidentiality of test results: Who will have access to my 
test results? Will the results be kept confidential?
{time}  Family issues: What will my test results mean for other family 
members? Should other family members consider genetic testing? What 
should I tell my family members?
{time}  Sample issues: Will part of my sample be left over from the 
test and, if so, what will happen to it?

Genetic Testing--It Should Be Your Decision

    This brochure has provided some basic information about genetic 
testing. We hope it will be helpful if you have to make decisions about 
genetic testing. Some people may decide to have a genetic test because 
they feel the information would be important for their healthcare and/
or life decisions. Others may decide not to have a genetic test because 
they feel that the risks outweigh the benefits of having the 
information, they feel their decisions would be no different, or they 
prefer not to know. The decision to have a genetic test is yours to 
make. It's your genetic information, and it's your choice.

    Dated: March 18, 2002.
Sarah Carr,
Executive Secretary, SACGT.
[FR Doc. 02-7056 Filed 3-22-02; 8:45 am]
BILLING CODE 4140-01-P