How GPs can respond to private gene test results
Thursday October 17th, 2019
Doctors confronted by patients armed with the results of private gene testing should check for family genetic history that might support the claimed results, according to experts today.
Writing in the BMJ, clinical geneticists set out how they believe GPs might respond to the proliferation of private testing.
They warn of the huge risk of false positives and false negatives together with the questionable accuracy of interpretations provided by private services.
If there is evidence of personal or family history to support the diagnosis provided by the tests, then the GP should refer to a clinical genetics test, according to Professor Anneke Lucassen, professor of clinical genetics at Southampton University.
Otherwise the doctor should seek to emphasise how healthy lifestyle can reduce the risk of future disease.
The Royal College of GPs welcomed the advice.
Chair Professor Helen Stokes-Lampard said: “Genetic testing shouldn’t simply be done to satisfy a patient’s curiosity about their health as the results could have very real implications. But as it stands, we don’t have the expertise to interpret them in a sophisticated enough way to be of great benefit for our patients.
“Our members have reported patients coming to see them with the results of commercial genetic tests, asking for them to be interpreted – and some commercial companies actually advise this instead of providing the necessary advice and feedback themselves.
“But GPs and our teams are already working under intense resource and workforce pressures – with patients waiting too long for a routine appointment as a result - so this is not a good use of our time or NHS resources, and should be the direct responsibility of the companies that are being paid to perform the tests.”
Practice Pointer: Direct-to-consumer genetic testing. BMJ 17 October 2019
https://www.bmj.com/content/367/bmj.l5688
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