BY MONIFA THOMAS Health Reporter

SWAB | Consumers get data, but can they interpret the results?

Buoyed by recent advances in technology and the identification of new genetic markers for common illnesses, a growing number of companies are selling genetic tests directly to consumers to assess their risk for diseases such as diabetes and heart disease.

For $300 to $3,000, a person can send a saliva sample to one of these companies to have it analyzed for genetic markers that might predispose them to certain illnesses.

Makers of these tests say they are giving consumers access to personalized data that can be used to make more informed decisions about their health.

But many geneticists question the value of direct-to-consumer genetic testing, especially if results are interpreted without the help of a medical professional.

“The biggest issue is that people may be acting on the information they obtain without seeing the big picture,” that genes are only one factor that impact disease risk, said Dr. Peter Hulick, a medical geneticist at NorthShore University HealthSystem in Evanston.

This might lead people who think they’re at low risk for, say, heart disease to be less vigilant about keeping their cholesterol and blood pressure in check, Hulick said.

Another key concern is that direct-to-consumer testing companies operate with limited federal oversight, making it possible for them to make misleading claims about the accuracy and scientific validity of their tests. And there aren’t industrywide testing standards to ensure that different companies analyzing the same data don’t come up with vastly different results.

It’s also important to note that testing for one or two genes known to be associated with an illness might provide an incomplete picture of a person’s risk profile, since scientists haven’t identified all of the genes involved in complex disorders like cardiovascular disease and Alzheimer’s.

“When you find an association between a gene and a disease . . . there is a lot that is still hidden,” Dr. Muin Khoury, from the Centers for Disease Control and Prevention, said last month at a symposium on direct-to-consumer genetics held by the National Research Council and the Institute of Medicine.

Panelists at the two-day symposium also expressed concern about how well the privacy of genetic information is protected by direct-to-consumer testing firms.

In light of these issues, the American College of Medical Genetics recommends that people consult a medical geneticist or genetic counselor before and after ordering a home genetics test.

Hulick said there’s potential for future benefits, but the science behind direct-to-consumer genetic testing isn’t there yet.

“We still haven’t shown that by having this information, we improve therapy or treatment or screening over prior medical screening techniques,” he said. “Until we have that benchmark, it’s hard to say these tests should impact one’s medical decisions.”

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