Earlier this month, the US Food and Drug Administration (FDA) authorized a direct-to-consumer test for breast cancer offered by 23andMe, a leading personal genetics company in the US. 23andMe customers can now obtain Genetic Health Risk (GHR) reports for breast cancer risk, without any medical prescription.
The test analyzes DNA from saliva self-collected by consumers, and reports on three selected mutations of the BRCA1/BRCA2 genes that increase the risk for breast and ovarian cancer in women, and breast or prostate cancer in men. The three variants are most prevalent in people of Ashkenazi Jewish descent, and account for over 90% of BRCA1/BRCA2 mutations found in the Ashkenazi Jewish population.
About 1 in 40 individuals of Ashkenazi Jewish descent has one of these three variants. Women with one of these variants have a 45-85% chance of developing breast cancer by age 70.
“Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer,” said Anne Wojcicki, 23andMe CEO and co-founder.
“We believe it’s important for consumers to have direct and affordable access to this potentially life-saving information. We will continue pioneering a path for greater access to health information, and promoting a more consumer-driven, preventative approach to health care.”
The test is of special benefit for those who are unaware of their ancestry. It also marks a milestone in the authorization of direct-to-consumer tests for cancer risk assessment by the FDA.
With increasing consumer interest in their personal healthcare and medical information, the authorization is a necessary step for the BRCA1/BRCA2 test since it functions as a diagnostic report, and can lead to major treatment decisions. Women who test positive for these variants may opt for prophylactic measures such as surgical removal of ovaries or breasts.
The test was reviewed by the FDA’s de novo premarket review pathway, which assures the test’s accuracy and reproducibility. In compliance with the agency’s expectations, 23andMe submitted data on user comprehension studies that demonstrated that the representative GHR test reports were easy to follow and understood by a consumer.
23andMe also offers genetic health risk reports for other medical diseases. Last year, FDA authorized 10 DTC reports that report on genetic predispositions for certain medical conditions, such as Parkinson’s Disease and late-onset Alzheimer’s Disease.
Not a substitute for regular cancer screening
It’s important to note that apart from the three variants screened by 23andMe, there are more than 1000 mutations in the BRCA1 and 2 genes that could increase the risk for breast cancer, and to a lesser extent, other kinds of cancer as well. Thus, a negative result for the three variants does not rule out other variants and/or environmental factors that increase cancer risk.
Donald St. Pierre, Acting Director of the Office of the In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, says,
“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 test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.”