What clinical geneticists think about DTC genetic testing

31 May 2013

A new survey of over 100 European clinical geneticists reveals general opposition to the way in which direct to consumer (DTC) genetic testing is delivered by commercial providers.
DTC genetic testing is a contentious area around the world with ongoing debate about how scientifically valid, clinically useful and ethically appropriate they are. Writing in the journal Genome Medicine, researchers report that 86% of their respondents were aware of DTC genetic testing, the most frequently mentioned providers being 23andme, deCODE and Navigenics.
Almost all the geneticists were opposed to any form of DTC testing for medical conditions that were not preventable or treatable, or for serious disorders. Most were also opposed to DTC testing for presymptomatic predictive testing for disorders with medium or high penetrance (50% and above), but 40% did not object to DTC genetic carrier testing. However, most said they would be willing to see patients who were concerned about DTC genetic testing results, and 44% has already done so.
84% did not agree with the idea of medical supervision being provided by phone to patients without an established physician-patient relationship. Views varied on what constituted a DTC genetic test and how important genetic counselling was. One respondent said: I believe that any genetic test without one or more sessions of pretesting counselling followed by post testing counselling is totally unacceptable”, but others took a more pragmatic approach, for example saying: “Serious personal risks should have face-to-face medical supervision. I could leave less serious on the responsibility of the consumer, who wants the test”.

Comment: Unsurprisingly, most professional clinical geneticists are not happy about the way in which DTC genetic tests are offered by commercial providers, which differs significantly from the traditional face-to-face expert pre- and post-test counselling. Many do however make a distinction between tests that are highly predictive and / or for very serious conditions, and those that are less predictive or medically significant, being less concerned about the latter. Perhaps most importantly, the findings suggest that the direct impact of DTC genetic testing on clinical geneticists is not insignificant, a fact that policy-makers should bear in mind as the commercial and related regulatory environments develop. 

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