23andMe Wins FDA Approval for Test to Detect BRCA Mutations

The U.S. Food and Drug Administration (FDA) recently authorized 23andMe to market its Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants).  According to an FDA news release, the approved test is the first direct-to-consumer test to report on three specific BRCA1 and BRCA2 breast cancer gene mutations. 

According to the news release, BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins.  Mutations of these genes may interfere with the production or functioning of the proteins and are linked to an increased risk of female breast and ovarian cancers.  About 12% of women in the U.S. population will develop breast cancer sometime during their lives.  However, according to the National Cancer Institute, a recent large study estimated that about 72% of women who inherit a harmful BRCA1 mutation will develop breast cancer by the age of 80.  Similarly, about 69% of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 80.  Because mutations of the BRCA1 and BRCA2 genes may be passed down to future generations, genetic testing for breast cancer risk has become more common.

23andMe offers genetic testing directly to consumers.  Traditionally, genetic testing was only available through healthcare providers: an individual would request tests from a healthcare provider, the healthcare provider would order tests from a laboratory, collect and send the samples, and interpret the test results before passing them onto the individual.  In contrast, direct-to-consumer genetic testing allows consumers to order and perform genetic tests without needing to interact with a healthcare professional.  23andMe has previously offered direct-to-consumer tests for the purposes of discovering an individual’s ancestry.  However, this new FDA approval indicates expansion of genetic testing services to other applications.

Although the FDA approval of 23andMe’s test is positive, the FDA expressly noted certain caveats regarding the test.  Specifically, the FDA clarified that the test only detects three out of more than 1,000 known BRCA mutations and that only a small percentage of Americans carry one of the three mutations.  A negative result therefore does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk.  Additionally, the FDA is establishing criteria, called special controls, which set forth the agency’s expectations in assuring the test’s accuracy and performance.  Though this test may be a precursor for exciting possibilities on the horizon, the FDA warned that this limited test should not completely replace consultations with a health care professional.  

Written by: Benjamin Ho