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Direct-to-consumer genetic testing — clinical considerations

Ronald J Trent
Med J Aust 2013; 198 (9): 496-498. || doi: 10.5694/mja12.11019
Published online: 20 May 2013

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.

  • Ronald J Trent1,2

  • 1 Sydney Medical School, University of Sydney, Sydney, NSW.
  • 2 Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, NSW.


Competing interests:

I am director of a genetic testing service in a New South Wales public hospital.

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