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What is direct-to-consumer genetic testing?

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Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.

If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor’s office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.

The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care, and offer a means for people to learn about their ancestral origins. At-home genetic tests, however, have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.

Genetic testing provides only one piece of information about a person’s health—other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.

For more information about direct-to-consumer genetic testing:

The American College of Medical Genetics, which is a national association of doctors specializing in genetics, has issued a statement on direct-to-consumer genetic testingP D F fileThis link leads to a site outside Genetics Home Reference..

The American Society of Human Genetics, a professional membership organization for specialists in genetics, has also issued a statement on direct-to-consumer genetic testing in the United StatesP D F fileThis link leads to a site outside Genetics Home Reference..

The Federal Trade Commission (FTC) works to protect consumers and promote truth in advertising.  The FTC offers an overview of direct-to-consumer genetic testingThis link leads to a site outside Genetics Home Reference. and a fact sheet for older peopleThis link leads to a site outside Genetics Home Reference. about the benefits and risks of at-home genetic tests.

The Genetic Alliance also provides information about genetic testingThis link leads to a site outside Genetics Home Reference., including issues surrounding direct-to-consumer genetic testing.

Additional information about direct-to-consumer marketing of genetic testsThis link leads to a site outside Genetics Home Reference. is available from the National Human Genome Research Institute.

EuroGentest offers a list of publications related to direct-to-consumer genetic testing in EuropeThis link leads to a site outside Genetics Home Reference..

Next: How can consumers be sure a genetic test is valid and useful?

Published: February 8, 2016