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Cancer Gene Study Offers to Detect Disposition, Half Ignore Results

By Terence Monmaney
Los Angeles Times

Given a chance to learn if they carried a gene that raised their risk of developing breast, ovarian, or prostate cancer, surprisingly few of the 279 women and men in a new study -- only 43 percent -- chose to take such a look at the future.

That was a central finding of the largest study yet of how people react when offered a blood test for the so-called breast cancer gene, BRCA1, which boosts the likelihood of developing the disease to 87 percent, about eight times higher than that of women generally. The gene also confers a 40 percent to 60 percent lifetime risk of ovarian cancer and about a 10 percent risk of prostate cancer in men.

Among the study subjects, who belonged to families with pronounced histories of breast and ovarian cancer, a major reason for declining the BRCA1 test was fear that a positive result would jeopardize health or life insurance. Another prominent fear was that a faulty test would mistakenly label, and perhaps stigmatize, a noncarrier as positive, prompting much needless anxiety and perhaps even surgery.

The issues raised by the study spotlight an emerging dilemma that pits a newly acquired power of science, which literally means "to know," against the foremost of medical ethics, which is to do no harm.

The study "is a very important contribution to understanding ... what possible choices people will make when they face the actual experience," said Dr. Francis Collins, director of the National Center for Human Genome Research at the National Institutes of Health.

"Being concerned about insurability and discrimination is very unsettling to people and may dissuade them from seeking testing," said Dr. Henry Lynch, a cancer specialist at Creighton University in Omaha and co-author of the study. It appears Wednesday in the Journal of the American Medical Association.

Testing negative for the gene also has the potential to spare women unnecessary surgery, the study showed. Before the test was available, women whose family history placed them at high risk of cancer sometimes had their breasts or ovaries surgically removed, the only known way to help prevent the diseases from developing.