FDA Approves First-Ever Breast Cancer Genetic Test for At-Home Use in Landmark Decision

Updated | People will now be able to test themselves for genetic risk factors linked to breast and ovarian cancer at home without their doctor’s permission. The Food and Drug Administration announced on Tuesday that a genetic test made by 23andMe for three mutations of the BRCA1 and BRCA2 genes has been approved.

This isn’t the first direct-to-consumer test for genetic risk factors that the FDA has allowed onto the market. 23andMe received approval last April for a test that looks for mutations associated with the risk a person might develop 10 different diseases, including Parkinson’s.

The concept of an at-home BRCA test may be exciting, but the FDA’s announcement came with a host of caveats.

First, the test detects only three mutations—but more than 1,000 mutations of the BRCA1 and 2 genes have been identified so far. Additionally, the mutations that the 23andMe test is looking for aren’t very common outside of relatively small groups of people. According to the FDA press release, the mutations identified by the at-home kit are found in only about 2 percent of Ashkenazi Jewish women—a group that’s more likely to carry BRCA1 and 2 mutations anyway.

“This authorization is incredibly valuable for those who might not be aware of their Ashkenazi Jewish descent or aren’t familiar with their family history of cancer,” Anne Wojcicki, 23andMe’s CEO and co-founder, said in a press release.

People who do carry one of these mutations have up to an 85 percent chance of developing breast cancer before they turn 70, 23andMe communications manager Christine Pai told Newsweek in an email. People who have already used the company's health-related genetic tests will get access to a report about their BRCA mutation status, as well as information to help them interpret the results, "in the coming weeks," according to the company's press release. People will be able to choose if they want to know their status. 

“This is an important step—one that we need to be very careful about, moving forward,” said Dr. Stephen Chanock, the director of the National Cancer Institute’s Division of Cancer Epidemiology and Genomics. Figuring out how a mutation might affect a person’s risk of cancer isn’t as simple as calculating their body mass index, for example. “There is a wide spectrum of the importance of those mutations. Only a very small number are important for making informed clinical decisions,” Chanock said. 

The FDA also cautioned against using this test to make major health care decisions, like Angelina Jolie’s decision to surgically remove her breasts and ovaries. “The consequences of some things that are done can be quite substantial,” Chanock said, referring to such surgeries. “That’s not to be taken lightly.”

The U.S. Preventive Services Task Force takes that caution a step further. This agency recommends against genetic testing for BRCA for women who don’t have a family history of breast or ovarian cancer. Even for women who do have a family history, BRCA testing is best paired with a genetic counseling session.  

“While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations, and most BRCA mutations that increase an individual’s risk are not detected by this test,” the acting director of the FDA’s Office of In Vitro Diagnostics and Radiological Health said in a press release.

Wojcicki echoed these concerns in the company’s release. "[It’s] important to understand that the majority of cancer is not hereditary. Our test does not account for all genetic variants that can cause a higher risk of cancer, and people should continue with their recommended cancer screenings.”

This article has been updated to include comment from Dr. Chanock as well as more information from 23andMes statement and the U.S. Preventive Services Task Force’s​ recommendations.

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