FDA Approves Direct-to-Consumer Cancer Mutation Test


A new direct-to-consumer test analyzes saliva for 3 BRCA variants that may elevate the risk of various types of cancer.

Today, the FDA authorized the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/2 (selected variants), which evaluates an individual’s risk of developing multiple cancer types, according to a press release.

The newly-approved test is the first direct-to-consumer (DTC) product to examine 3 specific BRCA1/2 mutations that are common among patients of Ashkenazi Jewish descent; however, the mutations are not the most common variants among the general population, according to the FDA.

The GHR Report examines DNA from a self-collected saliva sample to determine a woman’s risk for breast and ovarian cancers. Notably, the test also examines whether a man is at risk of developing breast and prostate cancers.

The FDA cautions that the test only detects 3 out of more than 1000 BRCA mutations, meaning that a negative result may not necessarily indicate whether or not a patient carries another variant that increases the risk of cancer.

“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. But it has a lot of caveats,” said Donald St. Pierre, acting director, Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health.

The agency advises that patients and providers should not use the GHR report to determine the course of treatment, as these decisions require further testing and genetic counseling, according to the release.

Related Coverage: FDA Approves First Drug for BRCA-Mutated Breast Cancer

The 3 BRCA mutations the GHR report tests for are present in 2% of Ashkenazi Jewish women but are rare in other populations. Due to the prevalence of other mutations, the test cannot determine overall cancer risk, according to the FDA.

The agency also noted that a majority of cancers are caused by lifestyle factors, such as smoking, obesity, hormones, and other habits. In addition to testing, it is important for patients to discuss cancer risk related to lifestyle factors with their providers, according to the release.

During the review of the test, the FDA determined that the data showed the results are accurate and provide reproducible results.

The manufacturer also submitted data on user comprehension, which showed instructions and reports were easily understood. The test report provides information about the results, how to interpret results, and where additional information can be found, according to the release.

The data were reviewed through the de novo premarket review pathway.

At this time, the FDA is also establishing special controls that outline the agency’s expectations for accuracy, reproducibility, clinical performance, and labeling. The special controls, along with general controls, provide reasonable assurance of safety and efficacy for the new test, according to the release.

“While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry 1 of these 3 mutations and most BRCA mutations that increase an individual’s risk are not detected by this test,” St. Pierre said. “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.”

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