orty years ago, when the first at-home pregnancy tests became available, some physicians warned against their use. They thought women might not be able to handle such information on their own and claimed that the results might trigger them to make irrational decisions — some went so far as to claim it would lead to suicides. Looking back, it seems unthinkable that we questioned women’s ability to access this kind of information.
My company, 23andMe, recently received FDA authorization for the first ever direct-to-consumer genetic test for an inherited risk for cancer. Specifically, it tests for variants in the BRCA1 and BRCA2 genes known to significantly increase chances of developing breast and ovarian cancer. Historically, access to this type of testing has been gated by insurance companies and couldn’t be obtained without an order from a physician or genetic counselor. Making this kind of test directly available to consumers is a huge milestone in empowering people to be in control of their own health information.
I was disappointed to see that some of the initial reaction to this FDA authorization had a similar tone as the early reaction to at-home pregnancy tests. Some critics believe that people can’t handle this kind of information on their own, and that learning about a genetic cancer risk should be conveyed only by medical professionals.
While doctors and genetic counselors play an important role in delivering health care and health information, I am an advocate for consumers having more direct access to personalized information so they can take charge of their health. Making genetic testing affordable and accessible enables more people to learn important — and potentially lifesaving — information about themselves.
We know from our research and the work of others that you don’t have to be an expert to handle genetic health risk information. People do not base rash or ill-informed decisions about their health on it. We also discovered through our research that a number of our customers who learned that they carry potentially harmful BRCA-related genetic variants never knew they were at risk for breast or ovarian cancer and would never have been tested for them through the traditional system. For some of these people, the information they got from a direct-to-consumer genetic test truly saved their lives.
As part of the FDA authorization process, 23andMe had to demonstrate that we can deliver genetic risk information to customers in a way they understand. In rigorous studies submitted to the FDA for our previously authorized Genetic Health Risk Reports, which are similar to our BRCA1/BRCA2 report, we demonstrated user comprehension of 90 percent or greater.
The BRCA1/BRCA2 report has limitations, and we worked hard to make sure that customers will be able to clearly understand those limitations. We clearly disclose that we do not test for all possible BRCA gene variants and that the test cannot diagnose breast or ovarian cancer. The report also makes it clear that many other factors outside of genetics influence one’s risk for cancer.
This 23andMe test looks at just three variants among the thousands of mutations that contribute to cancer risk. These variants are found mostly in people of Ashkenazi Jewish ancestry. But they are the most well-studied BRCA risk variants, and having one of them — no matter one’s ethnicity — could mean an increase of 45 percent to 85 percent in the chance of developing breast or ovarian cancer by the age of 70. Several studies have shown that as many as 50 percent of people with one of these mutations wouldn’t qualify for breast or ovarian cancer screening under current medical guidelines. These people likely would not be prescribed a genetic test, and thus have no real options for learning this information if not for openly accessible consumer genetic testing.
Now that the BRCA1/BRCA2 report is available, we know that among our existing customers, several thousand will learn they are carriers of one or more of the variants we test for. Without affordable and direct access to this critical information, many would never know they are at high risk for cancer.
I applaud the FDA for recognizing that people want personalized health information about themselves, and that there are responsible ways for making that information accessible. As is the case for at-home pregnancy tests, I believe that years from now we’ll look back and wonder why we questioned that individuals would be able to understand and responsibly act on carefully delivered health information.
Anne Wojcicki is the CEO and co-founder of 23andMe.