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NHGRI Pledges More than $25M to Move EMRs and Genomic Data into the Clinic

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The National Human Genome Research Institute plans to award more than $25 million to support a project intended to drive electronic medical records and genotyping data into clinical practice.

The program, called the Electronic Medical Records and Genomics Network, or eMERGE, was launched in 2007 with the aim of conducting genome-wide association studies in participants with phenotypes and environmental information derived from electronic medical records. Phase I of project funded five participating sites — at the University of Washington, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University — and a coordinating center at Vanderbilt.

NHGRI said this week that it intends to fund a second phase of the eMERGE Network that will incorporate information gathered in the first phase of the project "into clinical research and ongoing clinical care."

NHGRI issued two funding announcements for eMERGE Phase II: one that will award $22 million over four years to eight study investigators and another that will award $3.5 million to a single coordinating center.

According to the funding announcement for the study investigator awards, the grants will support "the most competitive existing eMERGE Phase I sites and new sites with existing biorepositories and genome-wide genotyping data to compete to become part of the eMERGE Network, Phase II."

The coordinating center, meantime, will "serve as a centralized resource" to support the eMERGE Network and "to incorporate state-of-the art methods generated in eMERGE Phase I into clinical research and ongoing clinical care in a Phase II eMERGE expansion."

Phase II of eMERGE "will begin to incorporate current genomic knowledge combined with available genotyping data and state-of-the-art electronic phenotyping and privacy protection methods into clinical research and ongoing clinical care," NHGRI said.

"Each of the eMERGE Phase I sites is working to transport and validate its primary phenotyping algorithms in at least two additional eMERGE sites, and then to implement them within the diverse EMR systems at all five sites, thus increasing sample sizes at minimal extra cost," NHGRI said. "Using diagnostic codes extracted from EMRs, already-genotyped patients in eMERGE can be classified on several hundred additional preliminary phenotypes in a phenome-wide scan, or 'PheWAS.'"

NHGRI said that eMERGE Phase II studies "are expected to expand the phenotype library and ensure its transferability outside eMERGE; increase the diversity of patients and settings; and incorporate GWA results in these patients into their EMRs for clinical use." The "key goal" of the second phase of the project "is to begin to explore the value of GWA genotyping information and its demonstrated associations in clinical decision-making, such as to warn clinicians of pharmacogenetically important variants at time of drug prescription or, conceivably, beforehand, or to identify persons at very high … genetic risk for a given condition for increased surveillance when/if appropriate."

Applications for both programs are due Nov. 17 and that anticipated start date of the awards is July 1, 2011.