ASHG Statement* on direct-to-consumer genetic testing in the United States.

* Approved by the ASHG Board of Directors in January 2007. Direct-to-consumer (DTC) genetic testing has been gaining prominence over the past several years. Proponents of DTC testing cite benefits that include increased consumer access to testing, greater consumer autonomy and empowerment, and enhanced privacy of the information obtained. Critics of DTC genetic testing have pointed to the risks that consumers will choose testing without adequate context or counseling, will receive tests from laboratories of dubious quality, and will be misled by unproven claims of benefit. Currently, DTC genetic testing is permitted in about half the states and is subject to little oversight at the federal level. In July 2006, the Government Accountability Office issued a report documenting troubling marketing practices by some DTC testing companies, and the Federal Trade Commission (FTC) issued a consumer alert cautioning consumers to be skeptical about claims made by some DTC companies. Internationally, several countries have issued reports cautioning against its use, and several European countries have banned or are considering banning it entirely. DTC testing has emerged during a period of rapid growth in the number of genetic tests. Today, there are more than 1,100 genetic tests available clinically, and several hundred more are available in research settings. Although most genetic testing is currently available only through a health care provider, an increasing variety of tests are being offered DTC, often without any health care provider involvement or counseling. The range of tests available DTC is broad, from tests for single-gene disorders, such as cystic fibrosis, to tests for predisposition to complex,multifactorial diseases, such as depression and cardiovascular disease. In addition to providing test results DTC, some companies also make recommendations regarding lifestyle changes on the basis of these results, such as changes in diet or use of nutritional supplements. Ensuring adequate information, high-quality laboratories, and accurate claims and interpretation of test results is important for all genetic tests, including those provided DTC. At the same time, a one-size-fits-all approach is not appropriate for DTC tests, because the types of tests being offered are heterogeneous, and their consequences are wide ranging. A test may be used to diagnose disease, to predict risk of future disease, to determine the risk of passing on a disease to one’s offspring, to aid in therapy selection, or to guide “lifestyle” choices such as diet and skin care. Different possible actions may result from different types of tests. For example, tests to determine whether someone is a carrier of a mutation for a particular disease may affect the choice of whether or whom to marry, whether to have children, and whether to terminate a pregnancy. Thus, the level of evidence required before a test is offered DTC, and the safeguards appropriate to ensure adequate consumer protection, will differ depending on what is being tested for and what the foreseeable consequences of testing are. Whereas the DTC model may be contraindicated for certain types of tests, the availability of other tests in the absence of a health care provider may not compromise, and may even foster, patient health. This policy statement does not attempt to set the dividing line between those tests that should be offered DTC and those that should not; rather, it sets forth principles that should govern all health-related genetic tests that are offered DTC.