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Direct-to-consumer genetic testing — clinical considerations

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Do-it-yourself mail-order tests — how should a doctor deal with them?

Health-related direct-to-consumer (DTC) genetic testing enables consumers to test for changes in their genome that may assist with diagnosis or screening for particular disorders or traits, and may help predict future disease or response to treatments. DTC testing allows this to be under the consumer’s control and, at least initially, does not involve a medical practitioner in ordering or interpreting the test. However, this control is traded off against uncertainty about how clinically relevant the tests or their results are for consumers and their families. There are important ethical and legal considerations, particularly if these tests are ordered from overseas laboratories. Consequently, for medical practitioners, DTC testing poses the problem of how it can be assimilated into practice.

The DTC genetic testing landscape

A 2003 report by the Australian Law Reform Commission predicted that the number of DTC testing laboratories would grow from the small number operating at the time.1 By 2010, there were over 30 DTC companies, mostly in the United…