Direct to Consumer Genetic Testing

Abstract

Within the health care system, genetic tests for monogenic disorders are ordered by a health professional, and the results are interpreted and conveyed to the patient by that person. With the availability of direct-to-consumer genetic testing (DTCGT), individuals can buy genetic testing kits and obtain results without the assistance of a professional. One factor mentioned in support of DTCGT is that individuals can make an autonomous choice to have a test that may affect their health. However, these persons must be aware of the value, risks, and benefits of a particular test. Often, information provided with a DTCGT is difficult to understand, or critical data are unavailable. Professional societies/organizations either want to prohibit such tests or accept them with specific controls and conditions. This review was undertaken to assess the current position statements and recommendations of several professional organizations on the use of DTCGT. Relevant electronic databases and Web pages were searched using the terms “direct to consumer” and “genetic test.” The review included documents describing a position statement, policy, guideline, or recommendations for use of DTCGT related directly to health in any country and produced by a professional organization or other relevant body. From 305 items for review, 300 were excluded; other items were found through searches of Google and health professional and bioethics Web sites, resulting in 14 documents available for review. Six documents were produced by professional colleges or societies in the United States, 2 by European societies, and 6 by public bodies in Europe. Potential benefits of DTCGT described included the right of individuals to have access to their own genetic information (personal autonomy), but this was weighed against the use of inappropriate tests and threats to an individual’s well-being. Three groups thought the benefits included availability of additional information, an empowering effect, and improved access to genetic testing. Other benefits were avoidance of unneeded clinical investigations or screening and initiation of early intervention in the context of equitable access to tests. The most common potential harms were risks to the individual’s privacy/confidentiality, consumers’ failure to recognize that results might have an effect on their future insurance or employment status, an overstatement of the actual predictive power of the results obtained through the tests, and questionable value of the results. Most organizations expressed concerns that users might be inappropriately reassured by inaccurate test results or by misinterpreting results. Four organizations indicated that tests should not be available for diagnostic or predictive purposes, tests should be discouraged, or only genetic tests meeting stringent criteria should be available. Recommendations were made that trained and qualified health professionals must provide accurate information and counseling before and after the testing. These aspects could place additional burdens on health care systems when consumers require information and support after performing the tests. Education of health professionals is necessary to support consumers undergoing DTCGT. These results suggest that professional associations and public organizations are more concerned about potential harms for patients using DTCGT than they are supportive of possible benefits. Although these professional organizations voiced concerns about the use of DTCGT, each has its own approach and recommendations. Because marketing of DTCGT is now international, a more coherent and systematic approach is required to ensure that health professionals are well informed about the potential advantages and risks to their patients. This approach would require a standard for information provided to professionals and consumers, identification of tests that should not be available without access to genetic counseling, and sufficient education for health professionals regarding the tests.