Consumer Testing for Disease Risk

Abstract

With the increased emphasis on patient-driven health care and readily available access to patients as consumers through the internet and media, many genetic testing companies are marketing directly to consumers. Direct-to-consumer genetic testing may result in unique concerns and considerations, because of limited knowledge about available genetic tests among patients and health care professionals, challenges in interpretation of genetic test results, and lack of oversight of some companies, as well as issues of privacy and confidentiality. It is important to note that tests from different companies that evaluate the same condition or genes can vary greatly in scope and technical quality. When undergoing 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 but may be distressing for consumers. Because of these considerations and the fact that the interpretation of test results often requires specific training and medical knowledge, direct-to-consumer genetic testing ideally should be performed after counseling to review the test’s potential benefits, risks, and limitations. Confirmatory genetic testing should be performed under the supervision of an appropriate obstetrician–gynecologist or other health care professional who is skilled in interpretation of genetic testing and risk assessment for the diseases of interest. This Committee Opinion has been updated to include information on counseling for patients who present with direct-to-consumer genetic test results, clinical vignettes, and an overview of currently available testing options as well as those potentially available in the near future.