FDA Approves 23andMe’s Direct-to-Consumer Genetic Test for Cancer

The U.S. Food and Drug Administration (FDA) approved the first-ever direct-to-consumer genetic test for cancer risk. It allows Mountain View, California-based 23andMe, Inc. to market its cancer test to customers for specific variations related to risk of breast, ovarian and prostate cancer.

It’s important to note that this is not a broad screening test available to the public without a prescription from a physician. It is for three genetic variants found on the BRCA1 and BRCA2 genes most often found in patients of Ashkenazi Jewish descent. Approximately 1 in 40 individuals in this population have one of these three variants. Women with one of the variants have a 45 to 85 percent risk of developing breast cancer by age 70.

"This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests," said Donald St. Pierre,acting director of the FDA’s Office of In Vitro Diagnostics and Radiological Health, in a statement. "But it has a lot of caveats. 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. This 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."

23andMe indicated that new and existing 23andMe Health + Ancestry Service customers that have been genotyped on one of its most recent platforms will have access to the report in the next few weeks. Customers must specifically choose if and when they want the information. The report will also include educational information so patients can understand the report better and how to use it appropriately.

Anne Wojcicki, co-founder and chief executive officer of 23andMe wrote in a blog post, "Let’s be clear, 23andMe’s new report, once it’s available, does not diagnose cancer and cannot rule out your chances of getting cancer. It doesn’t cover most of the thousands of BRCA1 and BRCA2 variants associated with increased cancer risk, variants in other genes associated with hereditary cancer, or non-genetic factors such as environment and lifestyle. It should not be used on its own to make medical decisions. Results should be confirmed with a healthcare provider in a clinical setting before taking any medical action. 23andMe’s BRCA1/BRCA2 report is not going to be helpful for everyone, but it’s a step in the right direction. We already know of customers who benefited from this information."

To be fair, this is a big deal, being the first DTC cancer test, and wouldn’t be surprising if it was the first of many. However, as Wojcicki notes, cancer diagnoses are complex and should be made with the consultation of a physician.

The test is apparently part of the 23andMe Personal Genome Service (PGS), which relies on human saliva samples. The report will describe if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or potentially is at increased risk of developing prostate cancer.

The three variants that are being tested for are most commonly found in individuals of Ashkenazi Jewish descent, and 23andMe is careful to note that they "do not describe a person’s overall risk of developing any type of cancer, and the absence of a variant tested does not rule out the presence of other variants that may be cancer-related. This test is not a substitute for visits to a healthcare provider for recommended screenings or appropriate follow-up and should not be used to determine any treatments."

No specific launch date or pricing information is yet available for the test.

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