Direct to Consumer Genetic Testing

The American Academy of Family Physicians recognizes that there is increasing availability and demand for direct to consumer genetic testing. These genetic tests are heavily marketed to consumers and are often available without involving a healthcare professional. Advertised benefits include predictions about health, information about personal traits, and information about ancestry.

While many tests are offered to people over the age of 18 without requiring a physician order, such an order is required for minors. However, some companies skirt this requirement by contracting with or employing a licensed clinician to provide orders based on questionnaires without having interviewed the patient. In either case, patients are at risk of receiving inadequate counseling. Due to the intricacies of genetic testing and the relative novelty to patients, the AAFP believes there should be a minimum standard for both interactive informed consent and pre- and post-test counseling with a qualified healthcare professional, such as a family physician or genetics counselor. And due to the especially sensitive nature of obtaining parental or guardian consent for minors, standards in these cases should be even more stringent. The Food and Drug Administration (FDA) should define these standards.

The AAFP recognizes that genetic testing is a complex process that should address risk for disease state, prevention, diagnosis, disease management, and implications for family members and reproductive health. Consumers should be informed regarding the utility of genetic testing in determining risks for future health state, the possibility of inconclusive results, and if or how this information could be acted upon by that individual and/or family members. The AAFP encourages the FDA to assess and oversee analytical validity, clinical validity, and accuracy of claims made by companies performing direct to consumer genetic testing.

Physicians should be informed about relevant issues in genetic privacy. Companies providing direct to consumer genetic testing may not be bound by standard healthcare privacy protections, for example, the Health Insurance Portability and Accountability Act (HIPAA). Companies may be able to claim ownership of the samples or share information with third parties. Currently, protections against discrimination based on genetic information are limited. The Genetic Information Nondiscrimination Act (GINA), for example, only covers group health and Medicare supplemental plans and employment decisions. Life insurance, disability insurance, and long-term care plans are not covered. Physicians should be aware of all relevant state and federal laws. Due to the potential impacts of the exposure of an individual's genetic information on the individual, their family, and their population, the AAFP supports expanding privacy protections and nondiscrimination protections concerning genetic information.

The AAFP encourages patients to consult with their physicians regarding the safety, use, risks, benefits, and interpretation of direct to consumer genetics testing. (July 2019 BOD)