The American Academy of Family Physicians (AAFP) 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.
Many direct-to-consumer genetic tests do not require a physician’s order if the patient is 18 years or older. While a physician’s order is required for minors, 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 and could experience stress and anxiety from the results. Due to the intricacies of genetic testing, the potential need for further testing and lifestyle changes based on genetic test results, and the relative novelty of genetic testing to patients, the AAFP believes direct-to-consumer genetic testing should have minimum standards for both interactive informed consent and pre- and post-test counseling with a qualified healthcare professional, such as a family physician or genetics counselor. Due to the especially sensitive nature of obtaining parental or guardian consent for minors who are pursuing direct-to-consumer genetic testing, 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 states, 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 states; the less than optimal performance in detecting some genetic variations; the possibility of inconclusive, false-positive, or false-negative results, the potential under-representation of some racial and ethnic groups in genetic databases which can affect predictions about disease states; and if or how this information could be acted upon by the consumer and/or their family members. The AAFP encourages the FDA to assess and oversee the analytical validity, clinical validity, and accuracy of claims made by companies performing direct-to-consumer genetic testing and also provide guidance regarding potential action items from results of these tests.
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, such as the Health Insurance Portability and Accountability Act (HIPAA). Companies may be able to claim ownership of the genetic samples or share genetic information with third parties. Currently, protections against discrimination based on genetic information are limited. The Genetic Information Nondiscrimination Act (GINA) only applies to group health insurance, Medicare supplemental insurance and employment decisions. Life insurance, disability insurance, and long-term care insurance plan decisions are not covered under GINA. Physicians should be aware of all relevant state and federal laws related to genetic testing. Due to the potential impacts of the exposure of a person’s genetic information on the individual, their family, and their community, the AAFP supports expanding privacy protections and nondiscrimination protections concerning genetic information.
The AAFP encourages patients to consult with their family physicians regarding the safety, use, risks, benefits, and interpretation of direct-to-consumer genetics testing.(2019) (September 2024 COD)