GPs advised not to take patients’ direct-to-consumer genetic test results at face value

The Royal College of General Practitioners has advised that GPs who are consulted about a patient’s direct-to-consumer (DTC) test results should use clinical and family history to decide whether to make a referral to an NHS genetics specialist. The College’s Position Statement about direct-to-consumer (DTC) genomic testing, written jointly with the British Society for Genetic Medicine, said:

“The analytical validity, sensitivity and clinical utility of such testing may be much lower than is popularly perceived. For certain types of DTC results, there is a very high chance of false positive or false negative results. This means that patients should be offered the NHS care which would otherwise have been offered (for example, family history and risk assessment, healthy lifestyle advice, or referral to specialist care) regardless of their DTC result.”

Anneke Lucassen, Professor of Clinical Genetics at the University of Southampton and colleagues wrote a paper ‘Direct-to-patient genetic testing’ that was published in the British Medical Journal on 16 October 2019. It is a research-based Practice Pointer intended for GPs and other healthcare professionals. If you are considering paying for a DTC test for a personal or family medical reason, then this article is worth reading.

(Lab Tests Online-UK have an article about the whole field of medical and non-medical genetic testing here.)