Mayo Clinic using EMRs to reveal genetic predisposition to disease

EMRs are moving into genomics, at least at the Mayo Clinic.

In a study published in the Journal of the American Medical Informatics Association, Mayo physicians showed how EMRs were able to help them determine the genetic variants that make certain people more likely to develop peripheral artery disease.

With consent of patients, researchers tapped the Mayo database of more than 8 million EMRs to pinpoint clinical variables that could indicate a predisposition to PAD, a task that would be difficult if not impossible with paper records, Healthcare IT News reports. The physicians were able to confirm several cases of the disease and to identify phenocopies--traits found in confirmed cases--of atherosclerotic PAD.

"Although manual abstraction of medical records can provide high-quality data, for large studies such as genetic association studies, manual review of medical records can be prohibitively expensive and time-consuming," the study says. "Our study demonstrates ... several significant advantages over traditional approaches to genomic medicine research by simplifying logistics, reducing timelines and overall costs through efficient data acquisition."

The team, from Mayo's Divisions of Cardiovascular Diseases and Biomedical Informatics and Statistics, said that structured EMR data from large institutions "offer great potential for diverse research studies, including those related to understanding the genetic bases of common diseases."

To learn more:

- read this CMIO article

- see this Healthcare IT News story

- read the full JAMIA article

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