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Extra resources for Understanding the Genome

Sample text

But some grim facts are clear. In families with hereditary breast cancer—which accounts for less than 10 percent of all cases—mutations in the BRCA1 gene confer an 85 percent lifetime risk of the disease, as well as a 45 percent chance of ovarian cancer. Some women in such families who have learned that they carry a mutated BRCA1 have elected to undergo a prophylactic mastectomy and ophorectomy (removal of the ovaries)—a procedure that may reduce but does not eliminate the risk of cancer. More uncertainty arises, however, with women who have a mutated BRCA1 gene but do not have a family history of breast cancer.

And genetic data can cause immediate and lifesapping harm. In particular, it can precipitate detrimental psychological changes, and it can open the door to discrimination. In the past, genetic discrimination has been largely confined to members of families afflicted with rare conditions showing a clear pattern of inheritance. For example, members of families with Huntington’s disease, a fatal neurodegenerative disorder that develops in middle age, have long found it difficult or impossible to obtain health insurance.

These factors have led the American Society of Human Genetics and the National Breast Cancer Coalition, an advocacy group, to urge that for now, testing for BRCA1 mutations be carried out only in a research setting. “We will fight any sale of this test before there is consensus on how it should be used,” says coalition member Mary Jo Ellis Kahn, a breast cancer survivor with a family history of the disease. Some women who know that they carry a mutated BRCA1 gene have gone to elaborate lengths to conceal that information from their insurance carriers, says Barbara B.

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