FEATURED , Genetics , News , BRCA , Genetic Testing

Alan Stolier, MD/


What are your plans for patients who arrive with their genetic profiles?

On March 16, 2018, the United States Food and Drug Administration (FDA) authorized 23andMe to perform direct to consumer (DTC) BRCA testing for 3 of the mutations that are commonly associated with the Ashkenazi Jewish population. This is the first BRCA DTC genetic test cleared by the FDA, and since then several companies have entered the direct to consumer market with genetic tests, mostly for hereditary disease testing, including non-BRCA breast cancer genes. Other cancer predisposition tests such as “Color” allow a patient to order a test kit directly from the genetics company but still require a personal physician--or one in an external network—to be involved. This represents a significant evolution in the FDA’s attitude toward approving DTC gene testing.  This easing regulatory environment is estimated to triple the market for genetic DTC testing rapidly; however, other regulatory and ethical questions remain unanswered.

FDA authorized 23andMe to perform direct to consumer BRCA testing

In 2013, the FDA sent a warning letter to 23andMe, instructing the company to discontinue marketing its DTC tests for BRCA mutations. Very gradually, 23andMe received authorization to market various other disease-related gene tests such as Gaucher’s Disease, Celiac Disease, and others. Finally, in March 2018, the FDA under the classification for “novel medical devices,” authorized BRCA testing, requiring  23andMe to include warning statements, limitations and technical information on its website.

The FDA plans to monitor how consumers use genetic health information as some studies suggest that consumers may not fully understand genetic test results; nor is it predictable how test results will be used without the benefit of genetic counseling. It’s clear to professionals that genetic testing gives an incomplete picture of the overall risk of particular cancer. Although the FDA has warned consumers not to make any medical decisions based on genetic test results; a concern--particularly in the face of a negative test—is that consumers will feel and behave as though they have minimal risk and not undergo appropriate surveillance or make healthy lifestyle changes.

Another large-scale concern is that the privacy protection provided by the Health Insurance Portability and Accountability Act (HIPAA) only applies to health plans and providers. Consequently, DTC companies may not be required to comply with HIPAA, and therefore new regulations may be necessary.  In the interim, some consumers are uncomfortable sharing their genetic makeup without privacy protection for fear of insurance company or employer discrimination.

While the regulatory and ethical decisions are evolving, the number of DTC genetic testing companies are exploding.  Are you prepared to manage those patients who greet you with their genetic profile in hand?

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