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Genetic Testing: Is The Cart Before The Horse?

I attended an excellent brown bag lunch with Dr. Greg Downing today. He’s the program director for the U.S. Department of Health and Human Services’ (HHS) Personalized Health Care Initiative. He spoke about some of the challenges associated with incorporating genetic test results into a personalized health record, and how consumer demand is fueling biotech companies to offer tests long before their clinical significance has been determined.

Here are some interesting statistics that Dr. Downing mentioned:

Only 15% of Americans have their medical records in an electronic format that they can access

About 30% of clinical decisions are based upon evidence from quality research

At least 70% of genetic tests are requested by patients, rather than clinicians

At the same time, HSS Secretary Mike Leavitt has issued this vision statement about personalized health care:

“Personalized health care is providing the right treatment, for the right patient, for the first time, every time.”

So what we have here is an incredible gap between our aspirations and reality. While we want to leverage genetic information for disease prevention purposes, subjecting the entire population to a “needle in a haystack” search for disease predictors is extremely expensive. In addition, genes rarely provide black and white answers regarding disease risk. Sure there’s the Huntington’s Disease gene (which really does have a nearly 100% correlation with the development of the disease), but the vast majority of genes have much more gray significance, with shades of predisposition and uncertainty.

Biotech companies sense America’s eagerness to peer into its health future, and are actively engaged in direct to consumer advertising. With tests ranging in price from $300-$3000 dollars, and wealthier clients willing to pay for the tests, they stand to make a good profit without clear improvements in health outcomes, or patients even knowing how to interpret their results.

Connecticut Attorney General Richard Blumenthal (D) recently said his office is investigating the accuracy of claims Myriad makes about the test in the ads, including issuing a subpoena for information about the ads. Blumenthal said his office has received complaints from professional caregivers, clinicians and scientists who believe the test has a “very high potential for misinterpretation and overreaction.”

In a rather extreme case of putting the cart before the horse, a potential susceptibility to suicidality (while on particular anti-depressants) was linked to a certain gene sequence. The day after the publication of this preliminary research one company was offering the genetic test directly to patients for $500/test.

So ultimately I agree with Dr. Downing’s cautionary message: let evidence based medicine be the foundation upon which personalized medicine is built. Mad dashes for genetic enlightenment don’t mean much if we don’t know how to interpret the test results. And let’s not forget the role of environmental factors in our health. You may have longevity genes, but if you’re engaged in risky behaviors, what good are they?

I do believe that the study of genetics is critical to our understanding of health and disease, but we need to do the research to learn how to leverage what we learn. Research is costly and slow, but the rewards are worth the investment. If you are going to undergo genetic testing online, make sure that you do so with a reputable company like DNA Direct that offers evidence-based tests with genetic counseling as part of the package, so that you will know what your test(s) mean. Of course, the best plan is to discuss genetic testing with your doctor.

And as for Secretary Leavitt, I applaud his vision and look forward to the day when we’ll all have access to our health information online, and we’ll receive the right treatments at the right time, every time… Let’s just say we’re not there yet.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

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