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DIGITizE: Displaying and Integrating Genetic Information Through the EHR

July 20, 2015
by David Raths
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HL7 conference panel talks FHIR for genetic data

Although many providers are eager to pull genomic data into their electronic health records, the current generation of EHRs cannot handle genomic information. The Institute of Medicine has convened a group of stakeholders in a collaborative effort dubbed “DIGITizE: Displaying and Integrating Genetic Information Through the EHR” to work on scalability, privacy, security and storage issues.

On July 20, at HL7’s Genomics Policy Conference in Washington, D.C., a few members of the collaborative representing Cerner, Epic and Allscripts talked about their visions for successfully integrating genomic information into the EHR.

Introducing the panel, Adam Berger, the IOM’s senior program officer and director of the Roundtable on Translating Genomic-Based Research for Health in the Board on Health Sciences Policy, said although genomics is become central to clinical care, much of it still resides in unstructured data, which he calls a “huge missed opportunity.” He said IOM saw an opportunity to bring together stakeholders to explore and implement strategies, with a specific focus on health IT. The goal is integrating genomic with other types of healthcare data so that it becomes standard to deliver that information to providers and patients and enable healthcare systems to generate evidence to support the research environment.

David McCallie Jr., vice president of medical informatics for Cerner, described some of what makes integrating genomic data into EHRs difficult.  First, the genomic data is huge huge and the meaning of data might change as the knowledge base changes, he said. “Also, the data standards are immature and interpretation is difficult and requires expertise.”

McCallie said Cerner likes the idea of apps that plug into the EHR. So the lab would keep the raw data, with discrete biomarkers and Variant Call Format (VCF) data stored in the EHR itself. Then what is kept in EHR would only be a few hundred megabytes of data.

“We like SMART on FHIR (Fast Healthcare Interoperability Resources). We think apps is the way to go,” McCallie said. “FHIR can be used to mediate remote decision support services, and SMART on FHIR is a good foundation for consumer apps to connect their own data through a patient portal.”

He added that there is a role for FHIR to help transfer files from clinical settings into formal research. Currently vendors do it with proprietary data dumps, which take a lot of work, he said. “If they did it as a FHIR bundle, it would greatly speed that process.”

Joel Diamond, M.D., chief medical officer for Allscripts and a physician at UPMC in Pittsburgh, told a story from his own practice. He said he knew a patient of his had seen an oncologist and had genetic testing. But as he looked through her records, he couldn’t find any sign of the results. “They are probably on a piece of paper in a file at the oncologist’s office,” he said.

 “What we need to do is define a care plan and how it is distributed to everybody, and how we can take that genomic information and make it part of the record for diagnosis and ongoing care,” Diamond said. “Having that data at the point of care becomes important. Also having the ability to support de-identified data so people can do research on regional and national levels is also somewhere we need to move quickly.”

Brad Strock, software developer for Epic Systems, said the largest challenge today is that the vast majority of genetic data is coming to providers as PDFs and faxes that sit on oncologists’ desks. “It doesn't need to be that way,” he said. “I am excited to work with the collaborative to build momentum. We can build on the first use cases, and drive that momentum. I see this as an important first step.”

Strock said because there will continue to be manual curation of genetics reports, EHR vendors have to facilitate how those fit into work flows. There are many questions about who is responsible for re-interpretation when new knowledge comes out. There are issues of privacy, security and consent models and how all this work is going to be reimbursed, he said.

IOM’s Berger said the collaborative expects to launch pilot studies soon concentrating on pharmacogenomic examples. “Then we can turn that missed opportunity into real opportunity to drive change. The future is looking bright for this field.”