A Medical Quest

In Which I Learn a Little Bit About Why the Genetic Counseling Process Seems So Odd, and in Which I Also Start Learning To Talk About Breasts—and Cutting Them Off
Health and medicine explained.
June 17 2004 10:01 AM

A Medical Quest

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When I tell Dr. Lisa Lehmann that I'm thinking I ought to have my breasts removed, she responds by telling me that I am "a deeper person than most." Actually, she says this because I say I'd rather get rid of my breasts than my ovaries. Still, talking about a prophylactic mastectomy is probably not a great way to endear myself to strangers, unless they happen to be, like Dr. Lehmann, Jewish female physicians and medical ethicists who have treated a lot of patients with breast cancer and/or one of the BRCA mutations.

Dr. Lehmann has conducted two studies of attitudes toward genetic testing among Ashkenazi Jewish women. In one, 200 women were asked whether they thought people who tested positive for a genetic mutation that may lead to disease had a duty to inform their relatives; a majority said yes. In the other, 200 women were asked about their attitudes toward research on "Jewish genes" in particular, and whether they would be interested in getting tested for BRCA1/2 mutations. A large majority were basically supportive of the research, and 40 percent said they would be interested in getting tested (the same number that said they wouldn't).

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If these studies are truly representative, that's a lot of potential subjects. But, Dr. Lehmann says: "We don't have women stomping down the door to get tested." It's possible that people don't really want to know they have a mutation, which would confirm the suspicion of David Laibson, the behavioral economist. But Dr. Lehmann is inclined to think that the biggest deterrent is the fear of losing one's health insurance, or life insurance. More than 40 states have enacted protections against "genetic discrimination" in health insurance, but a succession of federal bills have languished in Congress (one recently passed the House but faces a dismal future in the Senate). And there are no bans, state or federal, on discrimination in life insurance.

That seems absurd but also indicative of just how nervous the new field of medical genetics makes people. By reasonable logic, insurers should encourage at-risk women to get tested and then, say, offer price benefits if a woman takes action to prevent cancer. Obviously, it is cheaper to pay for a preventive mastectomy than for six months of cancer treatments—to say nothing of longer courses. My own mother was a constant patient for two and a half years before she died. I have spoken to a woman who had cancer twice in two years and whose second round of chemotherapy lasted a total of five years (she has since found out she has a BRCA2 mutation). But the illogical ways of the times mark mutation carriers as doomed—which shouldn't surprise me, since so many of the doctors have treated me this way. (Of course, it's also possible that women fear insurance companies more than they should: A nonprofit called FORCE—Facing Our Risk of Cancer Empowered—says they've seen virtually no insurance discrimination.)

From the time I became a journalist in the mid-1980s, until about 1992, I wrote primarily about AIDS. This may be why I am reminded of the early days of HIV-antibody testing, when it was unclear what one's status meant about future health and sickness and what, if anything, to do about that. Fears of discrimination led to the institution of anonymous testing with mandatory counseling all over the country. Apparently, there has been some talk of creating anonymous testing and counseling opportunities for possible BRCA mutation carriers. But that seems a little far-fetched. For many women the test wouldn't be an option: The BRCA tests are expensive (the simplest blood test for the most common "Ashkenazi" mutations costs over $300; a more comprehensive test that looks for other possible mutations costs nearly twice as much—and you can't bill an insurance company for an anonymous test). Plus, if a woman who tests positive decides to take medical action based on her results, she will have to "come out" to her insurance company anyway, so the purpose of anonymous testing would likely be defeated.

There are Jewish leaders, most notably an Orthodox rabbi in New York named Moshe Tendler, who have been speaking against the study of "Jewish diseases," which, they fear, will lead to discrimination in insurance and beyond. "But I think we are lucky they are doing all this research on Jews," says Dr. Lehmann. After all, there are mutations in many populations—particular cancer mutations, for example, have been found among Icelanders—and Ashkenazi Jews just happen to be among the first populations to know what these mutations are and start finding out what to do about them.

So, if one has the mutation, what does one do about it? I tell Dr. Lehmann how strange and confusing I found my interaction with the genetic counselors, who seemed unwilling to engage the subject of a preventive mastectomy but readily advised I get an oophorectomy. Dr. Lehmann is actually able to shed some light on this. First, she says, there are Jewish women's organizations that have criticized genetic counselors for suggesting cutting off women's breasts, which, they maintain, are a fundamental part of a woman's self-image. Right. And fertility, general health and youthfulness are not. This idea of the sacred breasts must simply have fallen on fertile soil. (Hey, I've just tested positive for a lethal mutation—I can make bad puns.) My last interviewee, Dr. Chen, said as much: it is just too hard for women, who are doing the counseling, to suggest cutting off breasts. That's true. But can you imagine men making that suggestion?

Second, explains Dr. Lehmann, genetic counselors are a breed apart from other doctors. "Genetic Counselors have a different philosophy," she says. They have been taught to engage in what's known as "non-directive counseling"—giving people information without telling them what to do or, really, trying to engage in the decision-making process with them. The reason is simple: In the past, genetic counseling was the exclusive province of reproductive medicine. Genetic counselors were the people who told women their fetus may have a debilitating disease, laid out the probabilities and the prognosis—and got out of the way of the intensely personal decision of whether a woman should have an abortion. Chopping off favorite parts of one's body is also a personal decision but, weirdly, not to the same extent: It is a lot easier for most of us to pass judgment on the value of a body part than on the value of a human life.

The BRCA1/2 testing programs are a true medical frontier. There are a few other genetic tests that have been available for a while, including a sickle-cell anemia test that's been around since the 1970s and tests for Huntington's disease, a degenerative neurological condition, and hemochromatosis, a condition where the body becomes overloaded with iron. But all of these are different from the BRCA1/2 tests. The sickle-cell tests check only for the trait, not for the disease itself—and still it has led to a lot of insurance discrimination; there is nothing that doctors can offer someone who has tested positive for the Huntington's gene; hemachromotosis, on the other hand, is treated fairly straightforwardly and very effectively. The BRCA1/2 mutation test, which very strongly predicts whether a woman will develop cancer, and for which there are specific but controversial prevention strategies, is probably more similar to the kinds of tests (for mutations that predispose people to life-threatening diseases, be they other cancers, heart disease, or osteoporosis) that will be developed in droves over the next 20 years, and all of us, including insurance companies, will have to adjust our thinking. I think I'm happy they've started with the Ashkenazi Jews: This is not a bad population for doing a little bit of trailblazing. Of course, that may be just me pumping myself up; the day I tested positive was literally the first time in my life it occurred to me that there might be something less than great about being Jewish (considering that I grew up in the Soviet Union, this is a remarkable realization).

Dr. Lehmann is another of those rare doctors who are willing to try on the hypothetical. She says that if she were me she'd "get a bilateral prophylactic mastectomy and a really good reconstructive surgeon." But, she adds, "that's also because I have seen so much breast cancer and even though I have patients who've lived with it for 20 years, I know how bad it can be." Would she get an oophorectomy to prevent ovarian cancer? Yes, she'd probably do that too. "It's a worse disease to have."

Masha Gessen is a Russian-American journalist who is the author of Words Will Break Cement: The Passion of Pussy Riot and co-editor of Gay Propaganda: Russian Love Stories.