By now you've probably heard about BRCA genetic mutations and that, if you have one, it can significantly increase your risk for breast, ovarian, and prostate cancers. Your doctor might recommend that you get tested for BRCA mutations if you’ve been diagnosed with certain cancers of have a history of certain cancers in your family (especially if they were diagnosed before the age of 50). Genetic counseling is often recommended before and after this testing to help you understand your risk and put it into context.
But that’s a lot to wade into. And figuring out which genetic risks you need to be worried about—if any—isn’t necessarily clear before you dive into discussions with your doctor. So while getting a preliminary test at home seems like a convenient way to get started, some experts have been wary about the idea of consumers getting tested without any professional guidance.
In fact, way back in 2013, genetic testing company 23andMe was forced to stop selling their at-home BRCA testing kit after an FDA warning letter said the company was marketing their tests in a way that suggested they were for the purpose of diagnosing or preventing disease.
But now they've brought the test back. And this week, the FDA authorized it, making it the first test for genetic breast cancer risk to be sold directly to consumers, rather than requiring a doctor to order it for you or needing it to be done in a lab.
"Historically, [BRCA testing] is an area of great interest to consumers," Emily Drabant Conley, Ph.D., VP of business development at 23andMe, tells SELF. "There was always the intention to bring this test back because we felt that it was extremely valuable." Although the tests aren't available right now, Conley says the company expects to be selling them "in the coming weeks" as it gets everything up to the standards set by the FDA as part of the authorization.
The 23andMe BRCA testing kit is the first one to be FDA authorized for use at home without a doctor's order.
Specifically, this new test looks for three mutations found on the BRCA1 and BRCA2 genes. These mutations are rare overall but are more likely to be found in those with Ashkenazi Jewish ancestry (present in about 2 percent of people with this heritage). If you are found to have one of the mutations, by age 70, your risk for developing breast cancer could be as high as 56 percent, while your risks for ovarian cancer and prostate cancer could each be as high as 16 percent.
It’s important to note, however, that the three mutations that can be picked up by the at-home test are just a small fraction of the known BRCA mutations associated with an increased risk for cancer. So although this test may be somewhat useful for people of Ashkenazi Jewish heritage or those who are interested in these particular mutations, it won’t pick up on most BRCA genetic mutations that would increase your risk of breast cancer. Therefore, any result you get from the test—negative or positive—is only a small window into your total genetic cancer risk. (More on that later.)
The test process is essentially the same as any other 23andMe test, Conley explains. First, you’ll purchase the test either online from the company’s site or in a store (such as Target or Walmart). Then, according to the instructions, you’ll spit in a tube, send in that saliva sample in prepaid packaging, and wait for the company to send you the results.
For anyone who’s already completed a 23andMe test, you won’t have to send in a new sample to get your BRCA results should you want them. If you purchased the Health and Ancestry option, you can simply opt in to see your results when they’re available. And if you purchased just the Ancestry test, you can upgrade your test to include Health results.
FYI: FDA authorization is different from FDA approval.
“The authorization allows the company to market the genetic health risk assessment BRCA test directly to consumers,” Deborah Kotz, an FDA spokesperson, tells SELF via email. Medical devices that get this designation follow a different “moderate risk” regulatory pathway than those receiving approval, which are considered “highest risk” devices. The agency also requires that 23andMe stick to certain requirements moving forward, such as including certain information about the test on its packaging and website.
That said, as the FDA notes, there are some risks associated with taking the test. In addition to the possibility of getting a false negative or positive result, Kotz says there’s the risk that a consumer may have an “incorrect understanding of the test results,” which could lead them to “have a false sense of reassurance if the result is negative or a false assumption that they have cancer if the result is positive.”
As it turns out, figuring out what your test results actually mean is a lot more complicated than you might think.
Although the test screens for three major BRCA mutations, neither a positive nor a negative result gives you a complete understanding of your genetic cancer risks.
A positive result doesn’t automatically mean that you will for sure develop breast cancer. It just means that your baseline risk (including any environmental or lifestyle risk factors) is elevated. Likewise, if the test is negative, that doesn’t necessarily mean you don’t have to worry about any genetic cancer risk because you could have other mutations that aren’t tested for here.
As noted in the FDA authorization announcement, "there are up to 1,000 [mutations] that are not tested for," Banu Arun, M.D., co-director of the Clinical Cancer Genetics Program at MD Anderson Cancer Center, tells SELF. And, aside from BRCA1 and BRCA2, there are several other genes associated with breast cancer risk that the test doesn’t look at, she says. So, even if your test results indicate that you don't have one of the three mutations the 23andMe test looks for, you could have one of these other mutations that may also affect your risk for breast cancer.
“We certainly acknowledge that [only testing for three mutations] is a limitation of the test,” Conley says. But she explains that these three are some of the best-understood mutations, and the test gives those who are curious about their risk a place to start.
So who should try it?
“This test only covers a very small amount of people,” Dr. Arun says. Specifically, those who are most at risk for having one of these three mutations (those with Ashkenazi Jewish ancestry) will get the most benefit, she explains. But anyone who’s interested in the other 1,000 or so BRCA mutations (regardless of their background) will need more extensive testing.
However, not everyone knows their family medical history or even their ancestry, Conley says. So, for someone who isn’t sure whether or not there’s any Ashkenazi Jewish heritage or a history of breast cancer in their family (and therefore likely wouldn’t qualify for a similar physician-ordered test), a 23andMe kit may offer some clues about whether or not it’s worth it to pursue more traditional options—as long as they’re willing to pay for it and understand that they’ll need additional tests to know the full extent of their genetic risks.
Other at-home testing kits do test for more mutations (such as the BRCA and hereditary cancer tests from Color Genomics), but they require a doctor's authorization to order. While incomplete, the 23andMe test is the only one you can really do totally on your own.
However, because 23andMe testing doesn’t involve a doctor’s authorization by design, your insurance isn’t going to cover it (the Health + Ancestry kit costs $199 on the website). And, depending on your individual situation, risk factors, and doctor’s recommendation, your insurance may or may not cover other at-home (or lab) tests.
The FDA authorization also notes that the 23andMe test shouldn’t be used to direct your care or medical decisions.
Even if you do have a positive result, you’ll have to get it confirmed with a more traditional lab test before making any conclusions about your risk, licensed genetic counselor Joy Larsen Haidle, past president of the National Society of Genetic Counselors, tells SELF. “Once the mutation is found, I need to clarify, ‘Is this real?’ and, ‘Does it make sense with what I’m seeing in the [patient’s] family history?’” Based on those results, she says a counselor may want to look for other mutations or to repeat the test through a different laboratory just to be absolutely certain of what’s going on.
If all of those results do show a BRCA mutation, it may mean you’ll need to have earlier or more frequent breast cancer screening or, if you’re diagnosed with cancer, it may help doctors choose a specific treatment option. Your doctor might also recommend that your family members consider genetic testing as well.
Ultimately, whether or not you want to take the test is up to you. But it's important to consider your other risk factors, too.
There's no doubt that having the option to learn about your genetic risk for breast cancer can be empowering, especially in a health care system that doesn't always take patients' concerns seriously. But that doesn't mean you need to be excessively concerned about whether or not you have these particular genetic markers—or that your genetics alone determine your cancer risk.
In fact, the vast majority of breast cancers are not due to genetic factors. According to the National Cancer Institute, these kinds of inherited genetic mutations only play a major role in up to 10 percent of cancer cases. That’s why Haidle says she and other genetic counselors also take environmental, occupational, and lifestyle factors into account when putting their genetic risk for cancer into context and creating a screening or treatment plan if necessary.
Genetic counseling isn’t really a part of the 23andMe service, Conley explains, although the site does direct consumers to find one if they’d like to do so. But Haidle says that, ideally, anyone who’s curious about their genetic risk for cancer would consult a genetic counselor or their physician at some point during the process, preferably before ordering the test on their own. (You can find a genetic counselor here or here.)
The bottom line: Even if you do decide to go for the 23andMe test, you’ll have to do a lot more digging to get the full picture.