Genetic Testing: What Consumers Need to Know

February 13, 2014 12:00 pm

Imagine taking a guided tour of your own DNA – the biological roadmap on any number of pathways that could lead to specific illnesses. Medical experts have actually been doing it for years, studying genes and identifying risk factors and precursors for a number of diseases, including cancer. And the studies and testing are getting even more sophisticated with each passing year.

But with several new over-the-counter genetic tests now available directly to consumers, what do we need to know before investing time, money and trust in these products?

Certified geneticist Heather Hampel, MS, CGC, associate director of the Division of Human Genetics at the OSUCCC – James, helps clear it up for us.

“Genetic testing checks a person’s genes, whether in their tumor or in their blood, to find out if there are any mistakes – or mutations – in any of the genes that might predispose someone to getting a certain disease,” says Hampel.

When it comes to home genetic testing, however, “I would urge extreme caution on those tests,” Hampel says. “While some of them might work for something simple like ‘Can you roll your tongue?’ or, ‘Do you have sticky earwax?’ testing for any risk of serious health concerns really does require a medical expert.”

Why? The answer is not only in the sample gathering but also in how results are interpreted. “If the results are interpreted incorrectly – which can often happen with a non-medical provider – you may think you’re not at risk for something that you really are, or vice versa,” she says.

In fact, the FDA is clamping down on direct-to-consumer genetic tests because of rampant inaccuracy, among other things. Concerns cited include that companies offering these home tests have often not worked with medical experts and haven’t been monitored by the FDA, so testing quality is unproven, incorrect genes may be tested, and consumers really don’t know what they’re getting.

So who should be tested? Anyone with a strong family history of certain illnesses, who has had something unusual about a diagnosis, or who has had an early-age disease diagnosis is typically a prime candidate. Medical experts can then gather a thorough family history, decide who is at increased risk, and select a test for a gene or group of genes – out of 30,000 – that is right for each individual.

In the clinical setting, health providers can determine if a gene mutation is inherited from a parent, if it could be passed along to that parent’s children, or if it predisposes the person to something like cancer, cardiovascular disease or a neurological disorder, for example.

The bottom line: Genetic testing can be extraordinarily complicated because there are so many genes that can be tested now. It is highly recommended to have a certified genetics counselor review and analyze the results.

“We stress that there really is no routine cancer,” Hampel said. “Each cancer patient has his or her own individual cancer and we want to make sure the testing they have gives them the right information about their particular cancer and risks so they can make the most informed medical decisions.”

To learn more about genetic testing or to make an appointment with a certified genetic counselor at the OSUCCC – James,  please call 614-293-6694.

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