FDA NewsPerspective

FDA authorizes direct-to-consumer genetic test for three BRCA mutations

The FDA authorized marketing the direct-to-consumer Personal Genome Service Genetic Health Risk Report for three mutations of BRCA1 and BRCA2 most common among people of Eastern European Ashkenazi Jewish descent, according to a press release.

The test — marketed by 23andMe — analyzes DNA using self-collected saliva samples to determine whether a woman is at increased risk for breast and ovarian cancer and whether a man is at increased risk for breast or prostate 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 [direct-to-consumer] genetic tests. But it has a lot of caveats,” 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, said in the release.

“[Although] 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,” he 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.”

The FDA based this authorization on company-submitted data on test accuracy, user comprehension studies and representative test reports that provide information about how to interpret results.

This test should not be used to determine treatment. Additionally, because of the limited number of evaluated mutations, a negative result from this test could still mean that a person has an increased risk for cancer due to other genetic mutations.

Along with this authorization, the FDA released special controls for the test to provide criteria for safety and efficacy.

The FDA granted the marketing authorization to 23andMe.

The FDA authorized marketing the direct-to-consumer Personal Genome Service Genetic Health Risk Report for three mutations of BRCA1 and BRCA2 most common among people of Eastern European Ashkenazi Jewish descent, according to a press release.

The test — marketed by 23andMe — analyzes DNA using self-collected saliva samples to determine whether a woman is at increased risk for breast and ovarian cancer and whether a man is at increased risk for breast or prostate 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 [direct-to-consumer] genetic tests. But it has a lot of caveats,” 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, said in the release.

“[Although] 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,” he 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.”

The FDA based this authorization on company-submitted data on test accuracy, user comprehension studies and representative test reports that provide information about how to interpret results.

This test should not be used to determine treatment. Additionally, because of the limited number of evaluated mutations, a negative result from this test could still mean that a person has an increased risk for cancer due to other genetic mutations.

Along with this authorization, the FDA released special controls for the test to provide criteria for safety and efficacy.

The FDA granted the marketing authorization to 23andMe.

    Perspective
    Sancy Leachman

    Sancy Leachman

    On March 6, 2018, the FDA authorized the first direct-to-consumer test for three BRCA1/BRCA2 breast cancer gene mutations. This decision has stimulated much discussion and controversy. The controversy lies in a difference of opinion with respect to balancing risks and benefits — and rights and responsibilities — for patients. Proponents of the direct-to-consumer genetic test argue that individuals have the right to access the technology, the right to know the information, and the right to apply the knowledge to their lives in the way they see fit. Proponents believe that individuals have the responsibility to make good personal health care decisions based on the data they receive. They see care providers as competent and caring individuals who will provide accurate and appropriate information and recommendations. Ultimately, proponents believe that the benefits of allowing access to this technology without the oversight of a care provider outweighs the risk for harm to the individual.

    In contrast, opponents believe the balance lies in the opposite direction. They do not think that the average layperson has the skill set or scientific knowledge necessary to interpret these complex tests in a meaningful way, that they do not have the background to understand uncertainty or make informed decisions based on the information, and fear that misinterpretation of the information will result in real harms to an individual — eg, to have prophylactic surgery when it may not be indicated. They also believe that nonspecialist care providers are ill-equipped to advise and manage individuals who present to them with direct-to-consumer genetic test results, and that this could potentially result in misinformation and/or unnecessary procedures.

    But, what proponents or opponents “believe” is not data driven; data are essential to determine the value of these tests going forward. In the meantime, I choose to be an optimist, and to believe in the common sense of our consumers, the adaptability of our care providers, and their commitment to safely and responsibly apply this technology to benefit health.

    As providers, we need to step up to this challenge and prepare ourselves to answer the tough questions and know the nuances of the test. We need to understand that although a positive BRCA mutation result in this test indicates an increased risk for breast cancer — and carries recommendations for screening and prophylaxis — most BRCA mutations won’t be uncovered by this test, and that a negative test result doesn’t exclude other BRCA mutations, particularly for someone with a strong personal or family history of breast cancer. 

    We also need to be alert and recommend referral to genetic counselors and know when to recommend full BRCA testing for high-risk patients. The future of precision medicine is bright; we now have the ability to guide care of an individual based on their genetic test results, whether we ordered the test or not.

    • Sancy Leachman, MD, PhD
    • Oregon Health & Science University’s Knight Cancer Institute

    Disclosures: Leachman reports no relevant financial disclosures.