6 August 2018

Pathologists slam direct-to-consumer genetic testing

Clinical Genetics

It isn’t good enough to bring in a doctor after a consumer has ordered a genetic test, say pathologists concerned about the increasing marketing of tests direct to consumers. 

The appetite for home-ordered genetic tests appears to be growing, with companies offering patients everything from their ancestry to their risk of future health conditions and susceptibility to drugs.

Amid concerns about fragmentation of care and the ethics of providing such information free of professional guidance, companies have commonly said that they advise customers to speak with their doctor or a genetic counsellor afterwards to interpret the results. 

But this isn’t good enough, according to the Royal College of Pathologists of Australasia (RCPA). 

“It is not appropriate for genetic tests that deal with significant clinical issues to be marketed directly to patients, or for professional support to be provided only after the testing has taken place,” the RCPA said in a statement. 

Speaking on behalf of the college, genetic pathologist Professor Graeme Suthers said they were “greatly concerned” by parents performing genetic tests on their babies without first talking to their doctor. 

While they acknowledged the known benefits of genetic screening in newborns, ethical and social implications of the customer-ordered tests needed to be addressed. 

As a result, the RCPA said it “not support any organisation which offers direct to consumer testing without the involvement of the patient’s medical practitioner”. 

This echoed standards set out by the National Pathology Accreditation Advisory Council for its laboratories, which state: ‘The Laboratory must provide medical nucleic acid testing only in the context of a clinical service provided by a medical practitioner.’

“The standards for good medical practice in pathology place the patient’s welfare at the centre of all that we do,” Professor Suthers said. 

“To ensure that this focus is maintained, it is essential that an experienced and independent medical practitioner be involved in guiding the selection, requesting, and use of complex medical tests.”

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Kathy Wallace
8 months 20 days ago
Genetic testing is widespread and the number of companies offering these tests is increasing rapidly, both overseas and in Australia. Anyone can order a 23&Me test, or one from Ancestry.com for a couple of hundred bucks. By comparison, I understand that SA Pathology would charge Medicare $2000-00 for whole genome analysis, but the test is restricted to families that have extensive or significant genetic anomalies and must be requested by a specialist. The ready availability at a low cost for genetic testing overseas is possible due to companies like 23&Me selling the genetic data sets they have accumulated to the… Read more »