Direct-to-Consumer Test for BRCA Mutations Authorized

For the first time, the FDA has authorized a direct-to-consumer test to pinpoint three specific BRCA1/2 mutations most commonly found in women of Ashkenazi Jewish descent. The personal genomics company 23andMe will market the test.

The test analyzes DNA in saliva for mutations that are present in about 2% of Ashkenazi Jewish women, but rare in other ethnic groups and the general population. The mutations, which have been linked to an increased risk of breast, ovarian, and prostate cancers, are just a few of the more than 1,000 known BRCA mutations.

23andMe views the authorization as advancing its core mission of giving people the choice to access their genetic data directly, and says the company will supply information to consumers about support groups, genetic counseling, and discussing the results with family.

In announcing the authorization, the FDA cautioned that the three BRCA mutations detected by the test are not the ones most likely to increase an individual's cancer risk—and that the test is not a substitute for consulting a doctor for cancer screening or genetic counseling.

Kevin Hughes, MD, of Massachusetts General Hospital in Boston, who is not paid by 23andMe but has been consulted as an expert, considers the authorization a positive development.

Although genetic testing has been around for 20 years, he says that barriers to its use—for example, high cost, complicated consent processes, limits on where and how testing is done, and a lack of genetic counselors—mean that most people who could benefit aren't tested.

“We're living in a genetic age,” Hughes says. “All of us have a genetic mutation in something, but the vast majority of us are unaware of it, and the faster we start letting people know what their specific problems might be, the better off our health is going to be,” he says, predicting that this is only “the tip of the iceberg” for direct-to-consumer genetic testing.

Mary-Claire King, PhD, professor of genetics and medicine at the University of Washington in Seattle, calls the test “a step in the wrong direction.” She emphasizes that because it identifies only three of 1,000 or more BRCA1/2 alterations, it will miss “the mutations of the great majority of American women with mutations.”

She also worries that women will misinterpret a negative result as meaning that they do not have any BRCA1/2 mutations and will not pursue additional testing for other, more common alterations.

As Susan Domchek, MD, Director of the Basser Center for BRCA at the University of Pennsylvania in Philadelphia, sees it, everyone wants to decrease barriers to genetic testing so that patients who need it will be tested and use the results to make more-informed medical decisions. “The question is how do you get from A to B?” she says.

Domchek's main concern with direct-to-consumer tests is that they are disconnected from medical care, but with the recent authorization, “that ship has sailed.” The focus now, she says, should be on making sure people have the necessary guidance to interpret results.

“To me, the bottom line is that if you're going to go through 23andMe to get this test, you want to make sure that you're working with your healthcare provider to understand what this means in the context of your personal and family history,” she says. –Catherine Caruso