The gene is out of the bottle.

The brave new world of gene therapy is upon us  opening a Pandora's Box of legal, ethical and medical questions.

By Fred Branfman

Published November 27, 1996 1:02PM (EST)

Utter nonsense! I consider that statement to be incorrect, misleading and a
great disservice to women. It's grossly irresponsible!" Mark
Skolnick, Vice President of Myriad Genetic Technologies, was vociferously objecting to a Stanford University group's suggestion that there were no effective treatments available for breast cancer, and so the breast-cancer gene test his company is marketing was unethical.

"Some people don't think of the removal of body parts as an effective therapy," shot back Barbara Koenig, co-director of the Stanford Program for Genomics, Ethics and Society.

"Outrageous! I think it's outrageous that he [Skolnick] is living off
women!" chimed in Barbara Brenner of Breast Cancer Action, a San Francisco-based
grass-roots group.

The angry exchanges, generated by a reporter's attempt to find out how much
hope the Utah-based company's gene test offered for the two million American victims of
breast cancer, occurred at last weekend's "III World Congress on
Bioethics" in San Francisco. It was but one example of how the gene
revolution will touch  and upset  many of us in coming years, as scientists hone in on the genetic causes of various cancers and other serious illnesses, including asthma, Alzheimer's, diabetes and heart disease.

To know years in advance that we face a life-threatening illness, even when we might die, was once the stuff of science fiction. As it begins to approximate reality, more basic questions arise. Will we want to know? If we do, can the information be kept private, or do we risk losing our insurance or job? If we test "positive," will we be entitled to an expensive operation? And who will pay for it?

The breast-cancer gene has become a focal point for such concerns because it
is among the first disease-causing genes for which tests have been developed,
and because it affects so many women: 185,000 are diagnosed with it annually, and 45,000 women die.

Myriad Genetic Technologies began marketing a test to detect the BRCA-1 and
BRCA-2 genes for breast cancer, at a cost of $2,400 per test, on
October 30. Critics, including the Stanford group, say that the test does not prove that a woman will develop breast cancer  and even if it did, a woman could do little with the information, because of the lack of available cures. However, Skolnick points out, BRCA-1 and BRCA-2 tests can also point to the possibility of ovarian cancer, and for that there is therapy: removal of the ovaries. Prophylactic oophorectomy, as it is technically called, is recommended by the National Insitutes of Health for women who are at high risk for ovarian cancer. "It cuts the risk of ovarian cancer from 40 to 60 percent down to a few percent," says Skolnick. "Since 70 to 80 percent of women die who have ovarian cancer, that could save the lives of maybe a third of those women."

Dr. Stefanie Jeffrey, a breast surgeon and a member of the Stanford panel, disagreed that preventive oophorectomy would be so clear a choice to women testing positive
for the gene. First, she said, not all women who are BRCA-1 positive will
develop ovarian cancer; and second, some will shy away because of the
potential side-effects of the operation, including premature menopause.

Geneticists are concerned that such uncertainty about the tests, and the accusations that companies are pushing such tests and radical therapies in the pursuit of profits, could diminish public support for gene research. "The last thing we need at this point is another Thalidomide scandal," said Dr. Francis Collins, head of the National Center
for Human Genome Research, a $3 billion, 15-year project to map the human
genome. Collins recommends that such testing be limited to research settings until more is known.

Some companies are heeding such recommendations. Jan Leschly, CEO of SmithKlein
Beecham, which underwrote part of the conference, supports the Stanford group's conclusions. Traditionally, said Leschly, drug companies have developed drugs by looking at "function," i.e. the illness, and then going back to discover the molecular
structures. Now, he said, "we are drowning in structures," i.e. genes, "and
trying to find their function." As a result, he believes, "you will see new drugs coming to market at a rate you've never seen before."
Aware of the dangers of such a pharmaceutical gold rush, Leschly said, his company  for the first time in 30 years  found itself supporting government regulation.

Skolnick's response  that his test can save lives, and that slowing down its marketing can hurt women  cannot be lightly dismissed. But it
is almost impossible for the non-specialist to know whether testing positive
on a gene test means that one should opt for a radical procedure like
ovary-removal. Most doctors today do not know much about the new gene
discoveries, and even geneticists themselves are reluctant to take a stand.

Neither Dr. Collins nor any of the other panelists on the "Where Do We Go From Here?" session of the conference, for example, would answer "yes" or "no" as to whether they would themselves take the gene test or have an oophorectomy if they had a family history of ovarian cancer.

If even geneticists and physicians are confused on the issue, what are the rest of us to do in the brave new world of genes?

Quote of the day

Hail, Caesar! We who are about to die salute you.

"It's difficult to think of a company in the history of the world that's positioned to influence so many aspects of life as Microsoft is at the end of the 20th Century. In terms of a civilized world, you'd have to go back to the Roman Empire to find any organization that had as great a reach as Microsoft has today."

 Michael Moritz, venture capitalist at Sequoia Capital in Menlo Park, Calif. (From "The Microsoft Century," in the Dec. 2 issue of Newsweek.)

Fred Branfman

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