Dangerous legacies

New gene tests provide fresh grounds for discrimination

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The quartet of smiling women in the gold-leaf-framed portrait share the same high cheekbones and hazel eyes. The youngest balances a chubby baby boy on her hip. Susan McGuire, 46, arranged for the photograph of herself with her grandmother, mother, daughter, and grandson shortly after her mother was diagnosed with ovarian cancer two years ago. Since then, her mother's luxuriant white hair has been lost to chemotherapy.

McGuire would like to take new tests that would probe her genetic blueprint, or DNA, and reveal whether she carries mutations that increase her chances of developing ovarian or breast cancer. They are known as the BRCA tests (after breast cancer, though they test for ovarian cancer, as well). She can trace this destructive legacy back two generations. In that span, five members of her family have battled ovarian cancer; three have died. If she tested negative, she and her husband could breathe easier. If the results were positive, she says, she would have her ovaries removed to reduce her risk of getting the disease.

Like countless other women with family histories of cancer, however, she is afraid to take the BRCA tests--and for good reason. She is not the only one who might obtain the results. Potential employers and insurers could at least theoretically get hold of the information, perhaps making it difficult for her to find work or be insured. In the year since the BRCA tests became commercially available, Congress has passed no bills to prevent discrimination against people on the basis of genetic information. Some two dozen states have enacted protective statutes, but they vary widely. In Illinois, for instance, the results of genetic tests may be released only to the person tested; in New Jersey, neither employers nor insurers may use the results of tests to discriminate. Two years ago, the federal Equal Employment Opportunity Commission issued an interpretation of the 1990 Americans with Disabilities Act stating that workers should be protected from genetic bias, but the issue hasn't been tested in court.

Pandering? Some people contend that any woman who can pay the fee, which ranges from $300 for a basic test to $2,700 for a comprehensive screening, and wants the test should take it. Dr. Harvey Stern, director of the BRCA testing program at Genetics and IVF Institute (GIVF) in Fairfax, Va., has screened patients with no family history of breast or ovarian cancer. "Am I pandering to their neurotic fear of cancer? I don't think so," he says. "If this gives them inner peace--fine."

Yet many women's health experts, including Dr. Susan Love, author of the bestseller Dr. Susan Love's Breast Book, believe women should not have themselves tested until a federal antidiscrimination law is in place--and until a lot more is known about the medical significance of a positive result. As Love points out, many women have heard that 1 in 8 of them will develop breast cancer at some point in their lives, but few realize that the gene mutations identified by BRCA tests account for only 5 to 10 percent of breast and ovarian cancers. The rest of the cancers may be caused by various other risk factors, including mutations in other genes and lifetime exposure to estrogen and other hormones.

A negative result on the gene test doesn't mean that a woman won't get cancer--nor does a positive result mean that she will. Until last spring, health experts believed that a woman with a BRCA mutation probably would develop breast cancer at some point in her life. Estimates said the risk was from 50 to 90 percent. But the results of a newer, broader study suggest that the risk could be lower.

Questionable value. Some experts argue that even a positive result is not useful clinically because there's nothing anyone can do to avoid developing the disease. Last spring, the Journal of the American Medical Association published the first set of guidelines for doctors with patients who have mutations identified by the BRCA tests. The report said it isn't yet clear whether pre-emptive removal of breasts or ovaries helps avoid cancer because, even after surgery, tumors may develop in nearby tissues. Other experts disagree, relying on the work of researchers at the Mayo Clinic who found that preventive mastectomies appear to reduce an at-risk woman's chances of getting breast cancer by about 90 percent.

More and more Americans are facing similar dilemmas about testing as scientists identify a growing roster of genetic mutations linked to common diseases. This fall, for instance, a gene test for hemochromatosis, which causes the body to store excess iron in the organs and is the most common genetic disease in the United States, reached the market. A new test for colon cancer is moving rapidly from the lab to doctors' offices. As the list grows, so do concerns about discrimination based on them. Civil rights attorneys are concerned that employers who insure their own workers (about 10 percent of employers) as opposed to signing on with a group plan may turn down job applicants with a genetic predisposition to various types of cancer because of the high cost of treatment.

While there have been no population-wide surveys of genetic bias, many people have reportedly suffered discrimination after being identified as having, or being at risk for, an inherited disease. Even before DNA gene tests, doctors could get clues about a person's future by studying family medical histories or by analyzing blood and urine samples for biochemical indicators of disease. In 1992, in one of the first papers published on genetic discrimination, Dr. Paul Billings, chief medical officer of the Heart of Texas veterans hospitals, described a pregnant woman in Louisiana whose fetus tested positive for cystic fibrosis. After the woman's managed-care health plan got the news, it said it would limit coverage of her pregnancy and child. (The plan said it would cover the cost of an abortion, however.) A Harvard Medical School study published last year documented 200 cases of genetic discrimination. One woman was fired from her job as a social worker after her bosses learned she was at risk of developing Huntington's disease, a fatal disorder that causes uncontrollable movements and dementia.

So far, no one has taken an employer or insurer to court for discrimination on the basis of BRCA test results. But such discrimination and lawsuits are likely to happen soon, according to Wendy McGoodwin, the executive director of the Council for Responsible Genetics in Cambridge, Mass., a nonprofit bioethics group. "We now have a huge new pool of people who are vulnerable to genetic discrimination," she says.

Congress is considering a number of bills that would limit discrimination against people with faulty genes, an idea backed by President Clinton. The proposals vary. Some would prevent medical, life, or disability insurers from dropping individuals with positive results or raising their premiums. Others would forbid employers from discriminating in hiring and promoting workers.

Insurance companies say they have a right to see their clients' test results. Life insurers argue, for instance, that people who test positive for mutations linked to life-threatening diseases might load up on insurance because they expect to die at a relatively young age, raising rates for others in the pool. Similarly, the Health Insurance Association of America is worried that previously uninsured people who learn they have a genetic predisposition to a disease will purchase insurance, incur high medical costs, and drive up premiums. The group is also lobbying against the bills on grounds that companies that insure individuals or small groups need to know genetic information so they can exclude high-risk people or charge them more for coverage.

Susan McGuire, whose family has a history of ovarian cancer, knows federal antidiscrimination legislation is not expected to pass this year, but that doesn't stop her from checking the newspaper each morning--just in case. McGuire says she'll get tested the moment such a bill is signed. Now she has an added sense of urgency. This week her sister, 47, expects to learn whether the growth she recently had removed from her uterus was cancerous.

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