Genomics pose ‘daunting’ test for EHRs
November 22, 2013 in Medical Technology
Think parsing the growing amount of information in electronic health records is tough now? Just wait until genomic data starts showing up in EHRs.
“The number of individual genetic tests is daunting,” Peter Tarczy-Hornoch, MD, chair of the University of Washington’s Department of Biomedical Informatics and Medical Education, said this week at the American Medical Informatics Association’s annual symposium. Each needs “structure and storage.”
A fully sequenced and analyzed genome contains about a terabyte of information, Tarczy-Hornoch explained during a well-attended session on integrating genomic data into the EHR, creating unprecedented storage and interoperability issues.
Asked about how to move around such large files, Christopher Chute, MD, founder of Mayo Clinic’s Division of Biomedical Informatics, recommended just recording variants in the EHR, not the entire genome. “It’s a kind of lossless compression,” he said.
Chute and Tarczy-Hornoch joined other top informatics researchers to review the October issue of the journal Genetics in Medicine, which was dedicated its to the integration of genomic data into electronic health records.
Christopher Chute, MD, founder of Mayo Clinic’s Division of Biomedical Informatics, wrote about applying big data to translational research.
“The special issue is intended to provide guidance to the many sites that are embarking upon or planning for the integration and implementation of genomic medicine into clinical care,” the co-editors of the issue, Marc S. Williams, MD, director of the Genomic Medicine Institute at Geisinger Health System in Danville, Pa., and Joseph L. Kannry, MD, lead technical informaticist of the EMR Clinical Transformation Group at Mount Sinai Medical Center in New York, wrote in their introduction.
“Authors of each article were asked to provide guidance in the form of a ‘how to’ and ‘what to think about’ for anyone tasked with launching a genomics program and integrating these data into the EHR at the point of care.”
In other words, “Healthcare is incredibly complex,” Chute said.
“Healthcare data is more than Google search,” he told a packed AMIA meeting room. “Close enough is not good enough.”
Most of the authors featured in the special issue are members of the EHR integration workgroup of the Electronic Medical Records and Genomics (eMERGE) Network, a federally funded, nine-organization consortium hosted at Vanderbilt University Medical Center in Nashville, Tenn. Several of the papers focused on the experiences of eMERGE institutions.
One implication, according to Williams, and co-editor of the special issue, is that clinicians and researchers soon might be able to build patient phenotypes from EHR data.
Williams was one of 18 listed authors of a paper examining stakeholder engagement strategies at eMERGE sites. “We’re clearly in a movement to open more data to patients,” he said, in explaining that article.
However, Williams cautioned that integration of genomic data into EHRs may increase the risk of compromising this highly personal information. “Current privacy and discrimination laws may not be adequate,” he said.