John Halamka, MD, was just the second human being to be sequenced in the landmark Personal Genome Project in 2008, one of the initial group of volunteers known as the PGP-10.

Back then, it cost about $350,000 for a company to do such a sequencing. Now the price tag is less than $1,000. Clearly, many advancements have been made in precision medicine over the past 10 years. Health IT has evolved too – just not necessarily in tandem with the "bold vision" of genomics.

[Also: Get social data into EHRs to bring precision medicine to population health]

"We aren't as good as we need to be," Halamka said this week at the Precision Medicine Summit. "Our EHRs are not exactly friendly for clinicians and they haven't done a good job of taking things like biomarkers, genomic interpretations and decision support and turning them into action."

How is precision medicine data relayed in the EHR, for instance?

"We use a very highly interoperable standard for such material called 'PDF,'" said Halamka.

[Also: Promise of precision medicine depends on overcoming big obstacles]

Washington University bioinformaticist and genetics fellow Nephi Walton said that in one project with Epic Systems it took them 9 months to get genetic data into the EHR and that, too, was via PDF.

Healthcare has to overcome several obstacles, in fact, to harness genomic advancement in a big way. While providers can send basic clinical summaries around, those are relatively simple data points like problem lists, meds, allergies and lab results rather than the genomic data that holds promise for personalized care.  

[Also: Is precision medicine a matter of national security?]

“What we need are systems that allow physicians quick and accurate knowledge of genetic conditions,” Walton added. “The informatics is crucial. This information can’t just come from what’s in the literature.”

Halamka said that interoperability has to make some evolutionary leaps if healthcare is going to capitalize on the ideals of precision medicine research.The good news? He’s starting to see upstarts and innovators enable more than just provider-to-provider exchange.

"I am meeting with more and more entrepreneurial 26-year-olds who are creating modules of functionality that are layering on top of electronic health records and will fundamentally provide more agility and more innovation than the EHR vendors themselves,” Halamka said.

The hope, he added, is that these companies will bring to market functions that live outside the EHR and enable bidirectional data exchange through FHIR and other standards.

Walton said that genomics and artificial intelligence, for instance, are advancing so fast right now that hospitals, payers, academic medical centers and government health entities need a framework to put those emerging technologies into practice quickly to manage to maintain and deliver precision medicine information.

"The future is bright," Halamka said. “And it’s happening quickly.”

Twitter: @MikeMiliardHITN
Email the writer: mike.miliard@himssmedia.com