Direct-to-Consumer DNA Genetic and Genomic Testing

Abstract

Direct-to-consumer (DTC) DNA genetic and genomic testing refers to the provision of DNA testing services by a laboratory directly to the public. The DTC industry emerged in the early 2000s and offered a range of DNA testing options for medical and other applications. The DTC approach is possible because DNA can be transported by mail, and the expanding role of the Internet in everyday life allows products to be advertised widely. The media and some in the scientifi c community helped the industry by highlighting new discoveries in genetic knowledge which were research-in-progress although packaged as having immediate benefi ts to health and well-being. The DTC industry has undergone a number of changes and is at a defi ning moment as regulators and the courts are asking questions about the product for sale. The model of care exemplifi ed by the DTC approach is attractive and likely to grow although the role of a medical practitioner in DTC DNA testing remains uncertain.

Regulation of Internet-based Genetic Testing: Challenges for Australia and Other Jurisdictions

“…Genetics services providing clinical testing in Australia follow international guidelines regarding the evidence required to substantiate medical risk information before it is provided to the consumer ( 28 ). Model guidelines have also been developed for the evaluation of genetic tests ( 29 ), but online DTC companies can provide medical risk information to consumers without fulfilling these evidence requirements ( 30 ). Informed consent for Internet-based DTC products does not meet traditional clinical genetic standards, with most DTC companies currently not providing pre- or post-test genetic counseling or medical support ( 10 ).…”