Published: Thu, March 08, 2018
Medical | By

FDA approves at-home breast cancer gene test

FDA approves at-home breast cancer gene test

For the first time the FDA has granted permission to market a direct-to-consumer genetic test to check for BRCA mutations that are associated with breast and ovarian cancer.

"Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer", Anne Wojcicki, CEO and cofounder, said in a press release. Only a small percentage of Americans carry one of the three mutations, and most of the 1,000 known BRCA mutations that increase an individual's cancer risk are not included in the test. The test looks for three mutations. However, the test is limited in that it can only assess 3 mutations of breast cancer, most often only found in individuals of Ashkenazi (Eastern European) Jewish descent.

The approval comes four years after the FDA threw the brakes on 23andMe's race across the consumer genetic testing landscape in a November 2013 warning letter that amounted to a cease-and-desist order.

Erica Ramos, the organization's president, said, "Anyone who has a strong personal or family history of breast or ovarian cancer and is interested in finding out more about their individualized risk should consult with a genetic counselor to discuss their genetic testing options, or to discuss their results".


People shouldn't take the test without talking to an expert, the National Society of Genetic Counselors said.

The three hereditary mutations detected by the test occur in about 2% of Ashkenazi Jewish women but are far more rare in the general population (0-0.1%). Most cancers are not caused by genetic mutations, and the ones tracked by the test aren't the most common BRCA mutations. The company submitted data on user comprehension studies, using representative GHR test reports, that showed instructions and reports were generally easy to follow and understood by a consumer. "Having a negative result for this test does not mean you don't have to worry about anything else", said Elrefai.

The FDA granted the marketing authorization to 23andMe.

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