Clinical OMICS

JAN-FEB 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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12 Clinical OMICs January/February 2017 www.clinicalomics.com For the Record Hospitals Break Down Silos to Combine Clinical and Genomic Data in the EHR Meghaan Ferreira, Contributing Editor In the Clinic I n an effort to break down the walls that have long existed between research and clinical care, Geisinger Health Sys- tem and Regeneron Genetics Center (RGC) partnered for the DiscovEHR collaboration aimed at coupling high-through- put, whole-exome sequencing data with de-identified elec- tronic health records (EHRs). The result of the project allows researchers to link genetic variants to clinical phenotypes and disease diagnoses in medical records, according to two paper published in the December 23, 2016 issue of Science detailing DiscovEHR. "We came with a big vision to do a very large-scale sequencing project, and we were thrilled to find someone who was like-minded," says Aris Baras, vice president and co-head of RGC, of RGC's partnership with Geisinger. Baras anticipates the DiscovEHR project will have collected DNA sequencing data from 100,000 participants by mid-2017 with an ultimate goal of 250,000 in the next three to five years. In contrast to similar projects, which probe a limited set of genes, DiscovEHR sequences the entire genome. This wealth of genetic information, in conjunction with EHR data, has built a framework for discovering previously unidentified associations between genetic variants and dis- ease—an aspect of the study that, according to Baras, has "turned out to be wildly successful." Perhaps an even more unusual aspect, however, is that Geisinger returns clinically actionable results back to study participants, informs primary care providers, and appends the information to EHRs. "In the old days, research and clinical care had a firewall between them," says David H. Ledbetter, Ph.D., Geisinger Health System executive vice president and CSO. "We're at the forefront of a new ethi- cal framework around medical research that says we have an obligation to give clinically-relevant information back to patients." This unusual practice high- lights Geisinger 's goal to identify high-risk patients and determine if preventive measures, such as enhanced surveillance or medication, can decrease the occurrence of life-threatening diseases like cancer or heart disease. DiscovEHR's analysis found that 3.5% of healthy adults possessed a variant that placed them at significantly higher risk for early cancer, heart attack, or cardiovascular disease. The prevalence of these genetic variations could support the case for population-level genetic screening—if preventive measures can improve the outcome. "The key is that the results have to be actionable, reliable, and there has to be a real utility" for the adoption of any new disease screening strategy, underscores Baras. So while the advent of new sequencing technologies could make population-level screening feasible from a cost perspective, it won't solve the equation. Despite guidelines assembled "In the old days, research and clinical care had a firewall between them. We're at the forefront of a new ethical framework around medical research that says we have an obligation to give clinically relevant information back to patients." David H. Ledbetter, Ph.D., Geisinger Health System

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