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Why Consumers Could Drive the Genomic Revolution


Healthcare must adapt to the new way in which risk factors present, according to a UPMC expert.

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When consumers pay a few hundred bucks for a genetic test, they want to use the ensuing information.

More accurately, they want their healthcare providers to use the information to do something about genetic hazards. Joel Diamond, MD, points to this trend as the reason why healthcare organizations and practitioners need to brush up on genomics—and prepare for a new world in which risk factors present in a way unseen before.

“Consumer demand is going to outpace physician demand initially,” says Diamond, an adjunct associate professor of biomedical informatics at the University of Pittsburgh, who practices in its health system, and the chief medical officer of the precision medicine platform 2bPrecise. “Those patients will say, ‘I just had this genetic panel done. What do I do about it, doc?’”

And physicians better get used to having that conversation. Better yet, he adds, they need to learn how to respond. That requires both knowledge and a willingness to harness the potential of this technology as it relates to preventative and precision medicine.

Each area will encounter cultural resistance, Diamond tells Healthcare Analytics News™.

He recalls a colleague of his showing a genetic marker of fatal arrhythmia. The man runs and has no family history of the problem. The genetic issue is a “total mutation,” Diamond says. So he called a specialist on behalf of his friend, hoping to convince the provider to order tests.

The specialist appeared dumbfounded. Since the electrocardiogram results appeared normal, he didn’t see why anyone would want further testing. But if Diamond’s colleague had a checkered family history when it came to fatal arrhythmia, the specialist claimed he would’ve jumped into action.

“Eventually, I had to say to him, ‘You’re just going to have to get used to this,’” Diamond says.

Tearing down that longstanding wall—and making clear the value of genomic sequencing—is crucial, he says. Although institutions will play a role, the wishes of patients may boom louder, a reasonable desire if they stand to receive actionable insights regarding health risks, he adds.

Physicians who aren’t bracing for this wave will be in a “horrible position,” Diamond notes. When their patients pay $200 for a genetic health test from 23andMe or $300 for whole exome sequencing elsewhere, they could demand an MRI or a stress test. Without education, providers could find themselves unaware of what to do or how to get such measures covered by insurers, Diamond says.

Moreover, an increased understanding of genetics can improve how physicians treat populations of patients. He recalls often prescribing Allopurinol, a gout drug, to patients. Eventually, the FDA placed a black box warning on the medication advising patients of Asian descent to be screened before taking it. The drug, it turns out, can be fatal to some people in that population.

“I want to know that upfront,” Diamond goes on. Thanks to genomics, he can.

The direct-to-consumer genetic testing market is mushrooming. Analysts think it will mature into a $340 million global industry in the next 5 years. The FDA this week also streamlined the review process for such assessments, further opening the door to companies like 23andMe and its budding competitors. The takeaway? The ride is just beginning.

Diamond offers 4 steps for healthcare organizations to find, store, and use their caches of genomic data. But it’s also on individual physicians, he says, to acclimate to and meet the growing demand.

Photo credit: Libertas Academia, Flickr. Image has been resized for this story.

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