Test For Breast Cancer Gene Will Be Available In Weeks

Mar 7, 2018
Originally published on March 7, 2018 7:25 am
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RACHEL MARTIN, HOST:

The Food and Drug Administration has approved the first test that Americans can get without a doctor to see if they are carrying genetic mutations that increase their risk for cancer. NPR health correspondent Rob Stein has details.

ROB STEIN, BYLINE: Until now, if anyone wanted to get genetic testing for cancer, they had to get it from their doctor. Not anymore. The new tests can spot three mutations that increase the risk for breast cancer, and women can order it directly from a California company known as 23andMe. Shirley Wu is the company's director of product science.

SHIRLEY WU: Consumers can go online, they can order a kit from our website, and that kit arrives in the mail. The consumer just spits in a tube and mails it back to our laboratory in a pre-paid box. And, in a few weeks, the results are returned to them in a secure online account.

STEIN: The results will tell them whether they're carrying any of three mutations in two genes that sharply increase the risk for breast cancer, known as BRCA1 and BRCA2.

WU: That information is extremely important.

STEIN: Women who test positive are alerted to talk to their doctors about what they can do to protect themselves, such as getting mammograms more often, or even taking drugs or undergoing surgery.

WU: Having access to this information gives the power to the consumer to be proactive in their health.

STEIN: But some geneticists are alarmed by the new test.

MARY-CLAIRE KING: The problem is that the testing is deceptive.

STEIN: That's Mary-Claire King of the University of Washington. She helped discover the breast cancer genes which are mostly found in Jewish women of Eastern European descent.

KING: What bothers me about this approach is that a woman who receives a result indicated as negative could easily believe that her result is in fact normal when all that result indicates is that she does not have one of the three mutations they test for, when, in fact, there are many thousands of mutations that are present in American women...

STEIN: That also increase the risk for breast cancer. So the danger is women will think they're in the clear when they're really not.

KING: My concern is that women who carry a severe mutation and don't know it could die of breast or ovarian cancer having been misled by a result they believed to be normal when it wasn't.

STEIN: The company says it makes the test's shortcomings crystal clear and strongly recommends women discuss the results with their doctor. The test should become available within a few weeks. Rob Stein, NPR News. Transcript provided by NPR, Copyright NPR.