Direct-to-consumer genetic testing: helpful, harmful, or pure entertainment?

T he genomic revolution has the potential to change the practice of medicine and healthcare. Advances in technology are driving down the cost of genetic testing, the public is more aware of and interested in such testing and its uses, and genetic testing companies are now offering direct-to-consumer (DTC) testing via kits sold on the Internet. Some argue that these changes make genetic testing more accessible to the general public and medical community at large and that these changes are critical to the full integration of genomic technology into society. However, many of the DTC tests offered are of questionable accuracy and utility and combine tests that provide mundane information about genetic traits with those for serious genetic conditions with life-threatening implications for the patient and the entire family. We will examine both sides of the issues surrounding DTC genetic testing, focusing on important considerations for clinicians using case vignettes to illustrate key issues.

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