GP guidelines needed to navigate genetic testing

A GP leader is calling for detailed guidelines on specific direct-to-consumer genetic tests in order to help practitioners navigate through an emerging “minefield”.

The NHMRC is currently seeking feedback on a draft document, Assessing the Direct-to-Consumer (DTC) Genetic Testing Results of Your Patient: A Quick Guide for General Practitioners.

One such test, on sale for US$299 plus US$74.95 shipping, claims to provide online results to consumers on the presence of risk genes for more than 40 inheritable diseases, including breast cancer and cystic fibrosis, through use of a ‘spit kit’.

But Dr Evan Ackermann, RACGP chair of quality care, said GPs were being put in an “inordinately difficult position” when presented with test results by a patient, without clear guidelines available on the standards used and reliability of the tests.

“What’s truly needed is advice on the quality and appropriateness of some of these tests and to form evidence-based guidelines for genetic testing. It’s a minefield,” he said. “There should also be independent information for consumers.

“A positive or negative result could leave both patient and GP in awkward positions. These genetic tests will have a role in future health care but there is going to have to be some sort
of control.”