Interest Grows in Standards for Sharing Genomic Data

Standards for sharing genomic data hold great promise for getting the information into electronic health records, but challenges still must be overcome to achieve benefits as precision medicine gains momentum.

The federal Precision Medicine Initiative is just one of the factors raising the importance of standards and interoperability, according to a panel of experts who presented progress on standards at the 2015 Policy Conference sponsored by HL7 Wednesday in Washington, D.C.

But efforts are underway in several areas to advance the work on standards, says Grant Wood, senior information technology strategist for the Clinical Genetics Institute of Intermountain HealthCare.  “There are different drivers going on today, such as consumer empowerment, self-reported data and the precision medicine initiative, as well as genetic care coordination initiatives,” Wood said.

HL7 has developed a data transmission standard that would enable the process of getting genetic information on family health history into electronic health records, as well as standards to transfer genetic variations into records, Wood said.

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Under the auspices of the Institutes of Medicine, a collaborative has been formed to investigate challenges of getting genetic history data into electronic health records, with participants including healthcare provider systems, lab companies and vendors. For example, Intermountain is partnering with one of its reference labs and an electronic health records vendor to develop messaging for pharmagenomic tests.

Standards organizations need to focus on how to improve care coordination with the use of genomic data, answering the question of “what are the entry points for where that data comes into the healthcare continuum for the patient, and how is it going to be used,” Wood said.

Efforts to develop interoperability standards for genomic information spans the globe, says Peter Goodhand, senior executive for the Global Alliance for Genomics and Health, which now has members from 375 organizations in 37 countries. The organization is working on initiatives that address data and integration methods, ethics and security issues.

“This initiative has emerged from genetic science,” Goodhand said. “We have to make sure that what we’re doing is clinically relevant and links back to human health.” Trends that are advancing the need for action include massive declines in the cost of sequencing genomes, and the increasing ability to bring computing capability to analyze information, among others.

Data sharing will be one of the driving forces that will empower precision medicine efforts, says Howard Levy, MD, assistant professor of medicine at Johns Hopkins School of Medicine. “It’s sad there’s not a better approach to develop some really rich networks for sharing this information,” Levy said. There has been a lack of economic incentives to enable the sharing of genetic information, as well as the lack of technical capability to achieve it.

“Medicine is slow to change, but we want to do right by the patient,” Levy said. “As the harm of having data in silos becomes more evident, we believe things will improve in this area.”