Conference Weighs Risks of Genetic Screening
By: Cattan, Nacha
Conference Weighs Risks of Genetic Screening
Having lost both her
mother and her aunt to cancer, Diane had no doubts
about the necessity for the genetic testing that locates cancer-related
mutations among Ashkenazi Jewish women. "For me, knowledge is power," said the
40-year-old at a genetics conference in New York City last week. (Organizers of
the conference asked that her full name not be used.)
For some attending the
conference, however, that knowledge is troubling
exactly because of its power. While voicing appreciation for the daylong event
co-sponsored by the American Jewish Congress and a number of other
organizations, they said that organizers glossed over the pitfalls of genetic
testing and downplayed the potential for its abuses by insurers and others.
The conference "did not definitively answer questions about the privacy
of information," the director of American affairs and domestic policy at
Hadassah, the Women's Zionist Organization of America, Rachel Zenner, said. "Do
insurance companies have access to records of genetic tests or family history,
and what would they do with the information if they had it?" Ms. Zenner cited a
survey showing 68% of those polled were concerned that genetic information will
be used against them.
Ms. Zenner and others
acknowledged, however, that conference speakers had
made a step in the right direction by reaching a consensus on the need for
legislation that would protect the privacy of those being tested. Conference
organizers said fears of insurance discrimination are unfounded, and the
conference was intended to address exactly those concerns.
The debate over testing
was a constant backdrop to a conference that
touched on cancer prevention, insurance reimbursement, recent
anti-discrimination legislation and patient testimonies.
On average, 56% of women
who test positive for a mutation will contract
breast cancer and one in six will get ovarian cancer, said a physician in the
Department of Human Genetics at Memorial Sloan-Kettering Cancer Center, Kenneth
Offit. Their options for cancer prevention include diligent surveillance
through breast and ovarian screening, hormonal therapy known as
chemoprevention, which has proved promising in recent studies, or the removal
of the breasts or ovaries, Dr. Offit said.
Four patients discussed
why they opted for the testing of the two genes
correlated with cancer, BRCA1 and BRCA2.
Frieda Friedmann, 74,
who survived breast and ovarian cancer, underwent
the test for her daughter's and son's sake, she said. She tested positive. Her
daughter, Sylvia Le Vine, 49, feared for her own health since she had a one in
two chance of inheriting the dominant mutated genes. She thought of taking
chemo-preventive drugs such as Tomoxifin, but first took the test. "When I
received the information that I had tested negatively, I of course told my
doctor 'no thank you, no Tomoxifin for me,'" Mrs. Le Vine said triumphantly.
The panel moderator, a
certified genetic counselor at New York University
School of Medicine, Elsa Reich said she could not convince women who had
decided against testing to participate in the panel, "for obvious reasons,"
implying that privacy was an issue for them. She said that the test is not for
everyone and such information has the potential to jeopardize relationships and
community standing. However, she said, such risks have been overstated in the
One of the patients,
speaking on condition of anonymity, said that she is
withholding her positive test results from a relative who is about to get
married out of concern that it may interfere with the wedding.
implications aside, the test may harm the patient
psychologically, saidco-organizer of the conferencea and genetic counselor at
the Strang Cancer Prevention Center, Gladys Rosenthal. "We need to have more
evidence from studies about whether people suffer anxiety and depression after
the results of the testing."
Seeking to allay at
least some of the concerns about testing was a
professor at the Department of Public Health Sciences of Wake Forest University
School of Medicine, Mark Hall. He presented the results of a study he had
co-written that found almost no instances of genetic discrimination by health
insurers. "Other studies that report genetic discrimination by insurers have
been criticized for overstating the extent of discrimination," the report
Ms. Zenner said Mr.
Hall's evidence was premature. Most current test
takers are wealthy or are isolated in certain parts of the country, she said,
adding "we don't know what discrimination will be like when testing is
Federal and state
legislation offers some protection, Ms. Zenner and
others said. The Federal Health Insurance Portability and Accountability Act of
1996 prohibits group health insurers from applying penalties and exclusions to
clients based on genetic test results and not on actual symptoms. In August,
Massachusetts enacted legislation that prohibits private insurers, in addition
to group health insurers, from discrimination based on family history as well
as genetic testing.
Thirty-six states have
laws that protect the public from at least some
forms of health insurance discrimination and 14 states have laws against
employee discrimination, the legal director of the National Workrights
Institute, Jeremy Gruber, said. Two recent bills in New York seek to deny
employers and health insurers access to genetic test results, he said, but the
current debate in Congress is on creating "monetary penalties" sufficient to
discourage insurers from breaking the law.
Knowledge gained from
genetic testing may or may not be powerful, but it
is expensive. Dr. Allan Bombard of Aetna U.S. Healthcare listed six acceptable
criteria for patients who wish to be reimbursed for BRCA testing, which can
cost from 250 to 2,800. One criterium would allow reimbursement for patients
of Ashkenazi descent who have had at least one relative with early onset breast
or ovarian cancer.
But some insurance
companies are not that forward looking, said Ms.
Reich. Many insurers, including Medicare, do not cover testing yet. Others,
like Medicaid, provide limited testing and unlimited hassles, Ms. Reich said.
"Non-Jews have to have complete sequencing of the two genes, and only one lab
does that on a commercial basis...but Medicaid will not cover it." She said
there is a "two-tiered system" between those who can afford insurance that
provides testing and those who have to fight for coverage. "Anyone who takes
care of these patients knows it's a fight to the finish," she said.