On Tuesday, 23andMe announced it will start telling customers of its mail-in DNA-testing kit about three mutations in the breast-cancer genes BRCA1 and BRCA2—a move officially sanctioned by the Food and Drug Administration.
“My first thought is: We’re not in 2013 anymore, Toto,” says Misha Angrist, an associate professor at Duke University, who has followed 23andMe’s troubles with the FDA. In 2013, the agency essentially forced 23andMe to suspend all of its health-risk reports, which included BRCA at the time. The FDA’s warning letter—a truly blistering one by bureaucratic standards—specifically warned that women might get mastectomies based on inaccurate BRCA tests.
Since then, 23andMe has been getting back into the FDA’s good graces. The company got FDA authorization on tests for Bloom syndrome in 2015 and risk reports for several conditions such as Parkinson’s and Alzheimer’s in 2017—all of which can be ordered without a doctor’s note.
But the BRCA genes have always been the big one because of how dramatically its mutations increase cancer risk. Women with certain variants have a 45 to 85 percent chance of developing breast cancer and a 44 percent chance of developing ovarian cancer. Angelina Jolie famously documented her double mastectomy in The New York Times after testing positive for a BRCA mutation.
“It’s been a top priority now for years,” Anne Wojcicki, the CEO of 23andMe, says of BRCA. In fact, the company has had the technical ability to test for these mutations this whole time. After 23andMe stopped offering risk assessments following the FDA smackdown, determined customers could still comb through their raw 23andMe data to analyze BRCA mutations. Now, 23andMe is bringing back its own BRCA risk assessments for past customers as well. Wojcicki noted that current clinical guidelines only recommend testing if people have family histories of certain cancers, but 23andMe has found that many BRCA carriers don’t have documented family histories. The pool of women tested for BRCA will likely expand.
23andMe only tests for two mutations in BRCA1 and one in BRCA2, all of which are most prevalent in the Ashkenazi Jewish population. These mutations are among the most common and best studied, but they still account for only a small fraction of hereditary breast cancers in the United States. There are over a thousand known BRCA mutations—some of which are linked to increased cancer risk, some which aren’t, others whose risk is unknown. Historically, some groups, like black women, have been less represented in genetic studies than others. “The group that is significantly under-tested and underserved by genetic testing [is] women of color,” Erika Stallings, who has written about her own experience with BRCA, pointed out in an email.
A negative result for the three mutations highlighted by 23andMe is not, therefore, a negative result for all BRCA mutations. 23andMe has crafted a set of slides to educate customers on this distinction, though it will not offer genetic counseling directly.
Several other companies do offer more complete BRCA tests, which are ordered through doctors and much more expensive without insurance than 23andMe’s $199 home kit. “[23andMe] is not an inexpensive way to get your testing done more cheaply,” says Laura Hercher, a genetic counselor who teaches at Sarah Lawrence College.
23andMe encourages customers who do test positive to contact a doctor for retesting in a clinical lab. Hercher warns this process may also not be so seamless. “If you show up at your doctor’s office with your 23andMe result printout, nine times out of 10, it isn’t going to be, ‘Oh, thank goodness, you brought it to my attention.’ You get a lot of skepticism,” says Hercher. That may change with the FDA’s new stamp of approval on BRCA, she says, as the gene is so well recognized in the medical community—but getting insurance to reimburse for extra screenings initiated by a 23andMe test could be a struggle at first. Right now, insurance companies are only required to cover BRCA screening under certain criteria, often a family history of breast cancer. (23andMe told me it plans to reach out to the reimbursement community on BRCA, and it has not encountered this problem with other health tests it offers.)
In any case, direct-to-consumer testing is clearly knocking on the door of the old medical system. Starting today, 23andMe is offering BRCA results to anyone willing to spit in a kit—now with the government’s official blessing.