With the increased emphasis on patient-driven health care and readily available access to patients through the internet and media, many genetic testing companies have begun to market directly to consumers. Direct-to-consumer genetic testing raises unique concerns and considerations, including limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic test results, lack of oversight of companies that offer genetic testing, and issues of privacy and confidentiality. When undergoing any direct-to-consumer genetic testing, the consumer should be apprised of risk from screening or susceptibility test results that can neither prove nor eliminate disease potential. Because ordering an appropriate genetic test and interpretation of genetic test results are complex, an obstetrician-gynecologist or other health care provider with knowledge of genetics should be involved in ordering and interpreting the results of any genetic test with medical implications. When an individual presents test results to a health care provider from a direct-to-consumer genomic test that putatively assesses the risk of specific diseases, the patient should be referred to an obstetrician-gynecologist or other health care provider who is skilled in risk assessment for the diseases of interest and interpretation of genetic testing results in the context of the individual's relevant medical and family history. Because of these considerations and in view of the fact that the interpretation of the results requires specific training and medical knowledge, direct-to-consumer genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.
Committee Opinion No. 724 Summary: Consumer Testing for Disease Risk. (2017). Obstetrics and Gynecology, 130(5), 1176–1177. https://doi.org/10.1097/AOG.0000000000002395