ACMG Issues Position Statement on Direct-to- Consumer Tests

The American College of Medical Genetics and Genomics (ACMG) has spoken up on the issue of direct-to-consumer testing, issuing semi-formal standards for assays that are marketed directly to the public.

Among the ACMG's recommendations: Labs offering direct-to-consumer testing should have CLIA and other relevant state certifications. There must also be a specific clarity of purpose regarding the assay.

According to the ACMG statement, "the consumer should be fully informed regarding what the test can and cannot say about his or her health. Many direct-to-consumer genetic tests do not give a definitive answer regarding whether an individual will develop a given condition but instead only provide information about the risk or probability of developing a disease."

To that end, labs should make available a genetic counselor or other genetic expert to inform the patient as to whether they should undertake specific tests. The patient should also "be apprised of the potential for receiving results that can neither confirm nor rule out the possibility of disease or unexpected results that are unrelated to the specific reasons for testing, as well as the implications of genetic test results for family members."

Loosening of federal regulations in recent years has allowed labs to market many tests directly to patients without the supervision of a physician. Although uptake has been relatively slow, labs such as Theranos and Sonora Quest Laboratories have begun offering tests directly to patients at retail clinics in Walgreen's and Safeway stores. Other large labs, such as PAML in Washington State, have begun offering direct-to-consumer testing to younger patient populations.

Along with ensuring the patients are fully informed regarding the tests they are undertaking, ACMG also recommended that labs ensure their privacy and inform them of what will be done with their genetic samples once testing is complete, and whether the results may have impact on the type of medical care they may need to receive in the future, and whether it could preclude them obtaining disability, life or other forms of insurance.

Takeaway: The ACMG is taking a strong position on how laboratories regulate direct-to-consumer tests.