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Expert concerned by DIY genetic tests

mouth swab

An Australian expert warns that DIY genetic tests are extremely hard to interpret and could do more harm than good (Source: iStockphoto)


In recent years, the rapid growth of start-up biotech companies has seen more than 1000 DNA tests marketed directly to the public - many via the Internet.

For between US$400 and US$1000 it is possible to choose from an array of genetic tests that vendors claim will provide information about diet, lifestyle or propensity for waxy ears, through to predisposition to conditions such as cancer, heart disease or mental illness - without needing to see a doctor.

The National Health and Medical Research Council Human Genetics Advisory Committee (HGAC) and the Australian Law Reform Commission is holding a public meeting to discuss the issue.

Speaking ahead of Thursday night's meeting in Sydney, HGAC Chair Professor Ron Trent of the University of Sydney warns that genetic tests are extremely hard to interpret and if they are obtained by bypassing the medical system, they could do more harm than good.

Lost in translation

"Often you need someone, a professional, to really sit there with you and explain to you what the test results mean," says Trent.

"Let's say an adverse result was obtained then you do need help from a range of professionals.

"If you take breast cancer predictive test, for example, that is more complicated because in some cases it might be 40% accurate or in other cases depending on the population it may be 60% accurate.

"If you get a positive result that might mean you need to have much more intensive monitoring, some women think about having a bilateral mastectomy.

"And if you get a negative result it doesn't mean you are not going to develop breast cancer, it means you have got the same risk as the person on the other side of the road."

Although many laboratories offer genetic counseling, the majority are based in North America or Europe. Trent is concerned that Australians have little recourse if something goes wrong.

"Many of these tests involve serious medical issues that require adequate counseling and support. Sometimes counseling requires one or two visits, sometimes it requires family members to come in and get involved," says Trent.

Genetic profiteering?

Novel genetic tests for associations between genes and disease seem to appear on the Internet almost as soon as science discovers them - and some are marketed before the science has been replicated.

Some policy makers are also concerned that without regulation and medical supervision, the direct-to-consumer genetic testing industry could sully the reputation of legitimate genetic testing services.

"We are very concerned that genetic testing is done appropriately so that people's privacy and confidentiality can be respected," says Trent.

"If these tests continue to be marketed as if they are commodities with little evidence that some of the claims are actually justified, then the whole of the genetic testing area gets a bad reputation."
