FDA Approves Direct-to-Consumer Cancer Mutation Test


The test looks for three mutations.

Things changed in a big way in 2017 when the FDA authorized 23andMe to provide direct-to-consumer DNA testing for 10 conditions like celiac disease, Parkinson's, Alzheimer's, and more.

In a prepared statement, Donald St. Pierre, acting director of the office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, called the approval a step forward with "a lot of caveats".

The US Food and Drug Administration has approved the first home test for consumers to check breast cancer risk.

If it comes back positive for any of the three genetic mutations, like BRCA, the patient is instructed to see a doctor. It is important to note that the test only detects 3 out of the more than 1,000 known breast cancer mutations. Men may also use the test to determine whether they have an increased risk of developing breast or prostate cancer.

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However, this does not find all genes that cause cancer, the FDA cautioned.

The vast majority of people with these genetic mutations have ancestral ties to the Ashkenazi Jewish population formerly living in central Europe and Russian Federation. The agency also noted that most cancers do not arise from genetic mutations but more likely from a combination of factors, including lifestyle and environmental factors.

Granted to 23andMe, the authorization covers the Personal Genome Service Genetic Health Risk Report for BRCA1/BRCA2 (selected variants).

The FDA's review of the test determined among other things that the company provided sufficient data to show that the test is accurate (i.e., can correctly identify the three genetic variants in saliva samples), and can provide reproducible results. To win approval, the company submitted data showing its instructions and reports are easy to understand. The evaluation, through the FDA's pathway for novel, moderate-risk medical devices, required greater than 99 percent accuracy and repeatability for the assay to be approved. They provide information on what the results might mean and where to get additional information.