As Genetic Testing Grows, So Do Concerns Study Says Individuals Discriminated Against Based On Information From Such Tests

Even as evidence of discrimination based on individuals’ genetic makeups arises, a company announced Thursday that it soon will sell the most comprehensive genetic test yet to predict breast cancer.

The $2,400 test is the latest entry in a race to bring to consumers the rapid discoveries of disease-causing genes, even though patients are struggling with the ramifications of learning they have such genes when there’s little they can do about it.

A study published in today’s edition of the journal Science found that some 47 percent of people asked on health insurance applications about genetic diseases were subsequently rejected for coverage.

“This is what genetics is all about right now, this contrast between rapid and exciting scientific advances that carry enormous promise to alleviate suffering … and yet the potential for this information to be used in ways that injure people,” warned Dr. Francis Collins, chief of the federal Human Genome Project. Collins is a critic of selling gene tests before doctors understand them better.

The Human Genome Project, the government’s massive effort to identify the body’s 80,000 to 100,000 genes, is trying to bridge that gap, spending $8 million next year alone to study the ethical and social implications of genetics research.

Scientists already have found genes that, when mutated, can cause everything from cancer to Alzheimer’s disease. And some laboratories are quietly offering tests to indicate whether now-healthy Americans could get those killer illnesses decades in the future.

The government has not yet decided whether or how to regulate such tests. A task force funded by Collins’ genome program now is writing recommendations that could help decide the question by spring, as well as push for federal legislation to forbid genetic discrimination by insurance companies.

But the market isn’t waiting.

On Oct. 30, doctors can begin ordering from Myriad Genetic Laboratories Inc. a $2,400 test that for the first time promises to detect every known mutation on two genes, called BRCA1 and BRCA2, that can cause inherited breast or ovarian cancer. Previous tests have detected only a handful of mutations.

Only about 10 percent of breast and ovarian cancer cases are inherited. People with faulty BRCA genes are thought to have about an 85 percent chance of eventually getting breast cancer and a 44 percent chance of ovarian cancer.

Even more troubling, patient options range from merely watching for tumors to having both breasts removed, which still doesn’t always prevent cancer.

Myriad Vice President Mark Skolnick calls the test a revolution that empowers women. But he acknowledges that two or three women out of every 100 tested won’t get a clear result when Myriad finds genetic mutations that aren’t yet defined as dangerous or merely molecular garbage.

The test is intended only for women already considered at risk of inherited cancer because relatives have it. Myriad will require them to sign a consent form showing they understand the limitations. Also, Myriad is funding a registry at the Dana Farber Cancer Institute that will track what happens to women diagnosed with gene mutations.

“Not everyone should receive this test, not everyone will receive this test,” said Amy Langer of the National Alliance of Breast Cancer Organizations, who praised Myriad for requiring the consent form and the patient registry. But “there is tremendous demand for testing,” particularly by worried women who may find they don’t have the faulty genes.

Yet, Virginia Lapham of Georgetown University says patients who demand such tests should first consider her genetic discrimination study.

In addition to people who claimed insurers rejected them, 9 percent were so frightened of potential rejection that they refused genetic testing to see if they, too, had a relative’s disease.

Richard Coorsh of the Health Insurance Association of America denied that genetic tests are used to weed out insurance applicants.