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COVER STORY:
Ethics of Genetic Testing
August 31, 2001 Episode no. 453
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BOB ABERNETHY, anchor: As a result of the Human Genome
Project, we are now able to locate genetic mutations and
know much more about a person's medical future than ever
before. And this new knowledge has given rise to many medical,
legal, and ethical questions. Betty Rollin has our report.
BETTY ROLLIN: Marcy Golub is not having an ordinary
blood test. She's being screened for BRCA 1 and 2 -- genetic
mutations that frequently lead to breast and ovarian cancer.
MARCY GOLUB: My sister was diagnosed with breast
cancer in 1982; after that she was diagnosed with ovarian
cancer in 1994. At the suggestion of my doctor, I went through
the cancer risk evaluation program.
ROLLIN: As a result of her family history, Marcy
is at risk for having the mutation, especially since her
sister tested positive for BRCA 1. Before her blood was
drawn, Marcy, like all patients planning to undergo genetic
testing, was encouraged to meet with a counselor.
MS. JILL STOPFER (Genetic Counselor, University of
Pennsylvania Cancer Center): What I try to do with everyone
is to help them make their own best decision about what's
right for them. To make sure that someone understands the
risks and benefits and limitations of testing; to make sure
when the results are available, the results are understood.
ROLLIN: Some patients may not want to deal with the
results if they're bad.
MS. STOPFER: If someone is expressing feelings of
concern about testing to the point where they are really
not sure, I'll encourage them to follow their feelings about
what to do.
ROLLIN:
In Marcy's case, a positive finding for BRCA 1, the mutation
she's most likely to have, would mean that her chances of
getting breast cancer are more than 50%, and of ovarian
cancer, 20 to 40%. Ovarian cancer is her greater concern
since it's harder to detect.
MS. STOPFER: If she's positive, we will recommend
strongly that she have her ovaries removed.
MS. GOLUB: I feel that if I have this prophylactic
surgery, I'm one step ahead of the game if I have a mutation.
If I don't, I can breathe easy.
MS. STOPFER: We caution people that everyone has
some risk for developing cancer. This doesn't make you risk
free, but the level of risk is certainly very, very different.
ROLLIN: There are some nonmedical risks as well.
The release of genetic information may cause people to lose
their insurance -- even their jobs.

Representative Louise Slaughter (D-NY, at House Energy and
Commerce Committee Hearing, July 11, 2001): Today's hearing
proposes to address the potential for genetic discrimination.
Unfortunately, genetic discrimination is not just a theoretical
possibility; it's a reality.
JUDITH BENKENDORF(genetic counselor and policy consultant):
People are so afraid of discrimination based on genetic
information that is learned from tests that they are not
getting tests and they are also not participating in research
protocols.
ROLLIN: As of now, laws dealing with genetic discrimination
vary from state to state. Federal law protects only those
who have group insurance policies. Bills in the House and
Senate that would provide more extensive coverage are pending.
There are privacy issues within families as well.
MS.
BENKENDORF: There is a tremendous tension in family
members between the right to privacy if you have a genetic
test and you don't want anybody else to know versus the
responsibility to share that information with other family
members.
ROLLIN: Within families, there also may be other
questions and conflicts: whether to test one's children
-- whether to have children, even whether to marry.

For example, Orthodox (and Hasidic) rabbis created Dor Yeshorum,
a program to test for Tay-Sachs and other diseases, which
particularly threaten the Jewish community. Since Orthodox
Jews are against abortion, they screen adolescents, with
the hope of preventing marriages between two carriers.
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Religion plays a different sort of role in the Getz family.
Fred Getz has neurofibromatosis 2, a rare neurological genetic
disorder that has made him deaf and partially paralyzed.
Ten years ago, the Getzs allowed their children to be part
of an NIH study which resulted in the discovery of the NF2
gene. The Getzs were pleased to help science but had moral
and religious qualms.
MRS. DONNA GETZ: We are pro-life; we didn't want
the testing used to encourage abortion, period. We think
that every child is a blessing. We think that children deserve
the chance to be born and the right to live. No matter what.
MR. FRED GETZ: There is no reason why a child can't
exist just because he has a genetic disorder.
ROLLIN:
Donna and Fred Getz are particularly sensitive about this
issue because two of their three children, 16-year-old Tiffany
and 11-year-old David, tested positive for the NF2 gene.
As a result, the family took what preventive action they
could.
MRS. GETZ: The oldest child had two surgeries; the
first surgery, unfortunately, was not successful and it
was to remove a tumor that was putting pressure on her auditory
nerve that was starting to impact her hearing. Unfortunately,
in her case, the hearing was not saved, but her facial nerve
was saved so that part was successful. The other child,
we had the first tumor removed. Unfortunately, we've recently
found that he now has a tumor growing on that side on a
different nerve.
ROLLIN: This family had a choice about being tested,
and for the most part, they're glad they did.
DAVID GETZ: I don't know. It's just something deep
down that tells me it's really comforting. So if I didn't
know, it would be more scary. I've had a lot of pain because
of the tumors, but I know they are tumors. I know that they
are not something else.
TIFFANY GETZ: For me to able to monitor things from
when I was a little kid, catch things early, I think it
was a very good idea.
MRS. GETZ: I would have to say I have mixed feelings
about it. If both of them had wonderful outcomes and they
were cured and their hearing was saved for life, I would
say yes, this was great, this is exactly what we hoped for.
It's always a gamble, but you always know that these tumors
grow larger.
ROLLIN: And what about Karen, the child who does
not have the gene?
MRS.
GETZ: She's very glad she doesn't have it, but she wishes
they didn't and she wishes her dad didn't, and she sees
what they go through and she doesn't know what will happen
with them in the future. And you know kids get scared. Shoot,
grownups get scared. What's their future going to be like?
She loves them.
ROLLIN: As genetic testing becomes more common, fear
will continue to play a major role: fear of the disease
if the test is positive; fear if there's nothing one can
do about the disease; fear of discrimination; and fear,
simply, of the burden of knowing. As a result, some people
will forgo genetic testing. But many more are likely to
want the information, especially if it will lead to a course
of action that might make a difference.
I'm Betty Rollin for RELIGION & ETHICS NEWSWEEKLY, in
Manassas, Virginia.
ABERNETHY: Genetic test results usually take from
four to six weeks.
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Related Books:
ASSESSING GENETIC RISKS: IMPLICATIONS FOR HEALTH AND SOCIAL POLICY
Published in 1994 by the National Academy of Sciences/Institute of Medicine, the text of the book is available free online at this site. It assesses the rapidly evolving field of genetic testing, "potentially one of the most socially explosive developments of our time," and offers "principles for actions and research and recommendations on key issues in genetic testing and screening."
FUTURE PERFECT: CONFRONTING DECISIONS ABOUT GENETICS
by Lori B. Andrews
UNPRECEDENTED CHOICES: RELIGIOUS ETHICS AT THE FRONTIERS OF GENETIC SCIENCE
by Audrey Chapman
GENOME: THE AUTOBIOGRAPHY OF A SPECIES IN 23 CHAPTERS
by Matt Ridley
WRESTLING WITH THE FUTURE: OUR GENES AND OUR CHOICES
by the Committee on Medical Ethics, Episcopal Diocese of Washington
IN WHOSE IMAGE: FAITH, SCIENCE, AND THE NEW GENETICS
edited by John Burgess
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Related Links:
National Society of Genetic Counselors
Facing Our Risk of Cancer Empowered (FORCE)
Resources for women concerned about breast and ovarian cancer risk due to the inherited BRCA mutation. Includes information on genetic testing and counseling.
Myriad Genetics
This biopharmaceutical company specializes in using genomic technologies to create breakthrough products. The site includes information on genetic testing.
OncoLink
University of Pennsylvania Cancer Center site.
Neurofibromatosis Inc.
A national nonprofit organization that promotes educational,
support, clinical, and research programs on this genetic
disorder of the nervous system.
Contact information: Phone (301) 918-4600. Fax (301) 918-0009. Toll-free (800) 842-6825. E-mail nfinc1@aol.com.
American Cancer Society
National Cancer Institute (NCI)
Phone: 1-800-4-CANCER
Tay-Sachs Disease
National Human Genome Research Institute (NHGRI)
Susan G. Komen Breast Cancer Foundation
Phone: 1-800-462-9273
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GeneTests
The site "promotes the appropriate use of genetic counseling and genetic testing in patient care" and "provides reliable, easy-to-use and current genetic counseling and testing information for the benefit of families and their healthcare providers." It is funded by the National Library of Medicine of the National Institutes of Health (NIH) and the Maternal & Child Health Bureau of the Health Resources Services Administration.
GeneClinics
Funded by NIH and developed at the University of Washington at Seattle, this is "a clinical information resource relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families with specific inherited disorders."
The Genetic Alliance
An international coalition to support individuals with genetic conditions, educate the public, and advocate for consumer-informed public policies.
Park Ridge Center for the Study of Health, Faith and Ethics
Click on "Publications" to find the content of past issues of the Center's BULLETIN, including "Genetics and Faith," the January/February 2000 issue that examines topics such as genetic testing and decision making, genetic challenges to faith, how genetic information and interventions raise questions about identity and the nature of God, and the meaning of genetic defects and suffering. A list of recommended additional readings is also included.
The Hastings Center
Click on "Publications" for information about special supplements to the HASTINGS CENTER REPORT in the area of genetics, including "Genetic Grammar" (July-August 1992); "Theology, Religious Traditions, and Bioethics" (July-August 1990); and "Public Priorities for Genetic Services" (May-June 1995).
Dor Yeshorim
This is the Committee for the Prevention of Jewish Genetic Diseases, located in Brooklyn, New York. The phone number for information about testing for Tay-Sachs and four other Jewish genetic diseases is 718-384-6060. Dor Yeshorim is Hebrew for "the generation of the righteous."
"Do You Really
Want to Know If You Have a Disease Gene?" http://www.nasw.org/users/ robinhenig/gene_testing.htm
An article by Robin Marantz Henig reprinted from USA TODAY,
April 27, 1998.
Jewish
Virtual Library: "Judaism, Genetic Screening, and Genetic
Therapy"
THE JEWISH HOMEMAKER: "When a Bad Match is in the Genes"
Ohio State University: FRONTIERS: "To Know or Not to Know"
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