The Food and Drug Administration announced this month it would allow genetic testing company 23andMe to resume direct-to-consumer testing for BRCA mutations.
One might assume I support the FDA’s decision, since I’m a BRCA2 mutation carrier and an awareness advocate. After all, identifying a BRCA mutation can help a person reduce their risk of ― or even potentially ward off ― a future cancer diagnosis.
But this test, which is part of 23AndMe’s broader screening test that includes genetic health risk reports on several other conditions, is not likely to do that. Not only are its results too limited to be helpful to most users, it also won’t help the communities that need it most. And it may not end up being cheaper than the existing alternatives anyway.
23andMe Doesn’t Test Enough Variations
BRCA1 and BRCA2 are tumor suppressor genes. Inherited mutations of these genes can increase a person’s lifetime chance of developing certain cancers ― making the risk as high as 75 percent for breast cancer and 50 percent for ovarian cancer in some cases.
One problem with the 23andMe test is its limited scope; the company will only test for three BRCA variants most commonly found in individuals of Ashkenazi Jewish descent.
However, there are more than 1,000 known BRCA mutation variants that elevate a person’s risk of developing breast or ovarian cancer. And that’s not to mention non-BRCA mutations, such as Lynch Syndrome, CHEK2 or PALB2, that carry their own cancer risks.
A person could have a BRCA mutation (or other known cancer mutation) and get a negative result if that variant is not one of the three that 23andMe tests for. If someone isn’t aware the test is only meaningful for a specific population that they’re not a part of, they may wrongly assume a negative result means they don’t have an increased cancer risk.
For its part, 23andMe has been open about the limited nature of its product. In a blog post written after the FDA’s approval, CEO Anne Wojcicki acknowledged the company’s screening test does not cover most of the BRCA1 and BRCA2 mutations associated with increased cancer risk, and said the report cannot be used on its own to make medical decisions.
The company informs consumers who opt to view their genetic risk report that even if 23andMe’s test comes back negative, they may still be at risk for cancer or have one of the many other BRCA mutations.
That said, limiting a genetic test to mutations found primarily among people of Ashkenazi Jewish descent ignores the fact that it’s women of color who are most in need of genetic testing access.
Studies have shown women of color are not being tested even though they’re also at risk for gene mutations. In 2017, Stanford University researchers found that women of Asian descent with breast cancer were less likely than other groups to undergo genetic testing ― surprising, since testing can help determine both family risk and the risk of additional cancers.
Researchers from the National Cancer Institute similarly discovered African-American and Hispanic women were four to five times less likely than women of Western European descent to undergo BRCA screening, despite facing similar mutation rates.
A direct-to-consumer test for underserved populations would be a game-changer in ensuring all women have access to life-saving information ― but this is not that test.
The 23andMe Test Doesn’t Come With Enough Education
The company does inform consumers that its report is limited in scope, but organizations such as the National Society of Genetic Counselors have expressed concern that the results “may be confusing or misleading without appropriate education.”
Even if a test comes back negative for BRCA mutations, the person should still speak with a medical provider if they have a strong family history of cancer. They may need to look into enhanced cancer screening, such as undergoing a clinical breast exam every six months.
23andMe will only test for three BRCA variants most commonly found in individuals of Ashkenazi Jewish descent.
While 23andMe lets consumers know they should consult their health care providers about additional screenings, the company’s recommendations undersell the importance and urgency of this part of the process.
Furthermore, the company does not offer genetic counseling services as part of its test package. That stands in contrast to other companies, like Color and Invitae, which aren’t direct-to-consumer and offer all customers access to board-certified genetic counselors.
Genetic counseling is a crucial part of the genetic testing process. A counselor’s job is to help a person interpret test results and explain them to family members.
When I underwent genetic testing, my counselor was instrumental to the process. I knew a mutation elevated my risk of developing breast cancer, but I wasn’t aware that my risk for ovarian cancer also increased. My counselor referred me to oncologists and gynecologists who specialized in high-risk patients and helped me develop a risk-reduction plan based on my family history.
Genetic counselors and physicians also help in choosing a proper course of action after a person gets a positive test result.
I often tell people I underwent a prophylactic double mastectomy not just because I had a BRCA2 mutation, but also because my medical team analyzed my specific mutation ― as well as my family history of early-onset breast cancer ― and determined surgery was the best risk-reduction strategy for my particular situation.
A spokesperson for 23andMe said that while the company doesn’t provide consumers with genetic counseling, it does encourage consumers to talk to a genetic counselor about their results and provides access to a counselor directory.
A 23andMe Test Isn’t Necessarily Cheaper
It’s also unclear whether 23andMe’s services will really save customers money. In some situations, a person might wind up paying more for 23andMe’s test than if they were to pursue testing through a genetic counselor or physician.
23andMe’s “Health + Ancestry” test currently retails for $ 199. However, if a person meets the National Comprehensive Cancer Network’s guidelines for genetic testing referral ― which include a family history of cancer, a diagnosis of breast cancer before age 50, and/or a diagnosis of ovarian cancer ― their health insurance may cover testing costs.
When I underwent testing at NYU Langone, my final out-of-pocket cost was $ 80, with my insurer covering the rest. Several laboratories provide financial assistance to those who need genetic testing but can’t afford it.
Furthermore, the FDA has advised 23andMe customers to get confirmation of their results before undergoing risk-reducing surgeries. This means a patient may end up paying for genetic testing twice.
It’s women of color who are most in need of genetic testing access.
If you’re concerned you may have a BRCA1 or BRCA2 gene mutation, your best bet is to speak with a genetic counselor. The National Society of Genetic Counselors has a searchable database and includes counselors who can conduct sessions by phone.
When done correctly, genetic testing can be a powerful tool for cancer prevention ― not just for one individual, but for an entire family. Given the high stakes, most consumers should avoid 23andMe’s genetic testing services until the company provides a more inclusive product.
Erika Stallings is an attorney based in New York City. After learning in 2014 that she carried a BRCA2 gene mutation, she underwent a preventative double mastectomy and now works to raise awareness of genetic testing, particularly in underserved communities. She is currently co-chair of the Young Leadership Council for the Basser Center for BRCA. The opinions herein are her own.