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NHGRI Awards $25M in Phase II Grants for eMERGE Project

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The National Human Genome Research Institute has awarded $25 million in grants for the second phase of the Electronic Medical Records and Genomics, or eMERGE, Network, an effort intended to drive adoption of electronic medical records and genotyping data in medical applications.

The first phase of eMERGE, which kicked off in 2007 and wrapped in July, demonstrated that data about disease characteristics in EMRs and patients' genetic information can be used in large genetic studies.

In the second phase, which will last four years, researchers in the consortium will demonstrate that the use of genomic information linked to disease characteristics and symptoms in electronic medical records can improve patient care.

The funding breakdown for the 2011 fiscal year is as follows:

• Vanderbilt University Medical Center, Dan M. Roden, $772,000. Vanderbilt will receive an additional $846,000 to set up a coordinating center that will support the network, an extension of its role in the first phase of the project.

• Group Health Cooperative and University of Washington, Eric B. Larson and Gail P. Jarvik, $823,000.

• Northwestern University, Rex L. Chisholm and Maureen E. Smith, $762,000.

• Weis Center for Research in the Geisinger Health System, David J. Carey and David H. Ledbetter, $841,000.

• Essentia Institute for Rural Health, Catherine A. McCarty, $773,000.

• Mayo Clinic, Iftikhar Kullo and Christopher G. Chute, $788,000.

• Mount Sinai School of Medicine, Erwin P. Bottinger, $847,000.

In addition, NHGRI is partnering with the Eunice Kennedy Shriver National Institute of Child Health and Human Development to provide $1.6 million for three investigators to conduct three-year pediatric eMERGE studies beginning next spring.

During this next phase of the eMERGE project, the investigators plan to identify genetic variants that are associated with more than 40 disease characteristics and symptoms using genome-wide association studies across the entire eMERGE network.

The groups will analyze DNA from about 32,000 participants in each study and use the genomic information in their clinical care.

Once they have obtained patient consent, the researchers plan to use information about genetic variants involved in drug response to adjust medications.

Additionally, researchers who discover patients with genetic variants associated with diseases such as diabetes or cardiovascular disease will intervene to prevent, diagnose, and/or treat such diseases.

The consortium also plans to develop best practices and policies that will "determine how best to use patient information for research or patient care," Teri Manolio, director of NHGRI's Office of Population Genomics, which administers the eMERGE network, said in a statement.

These include integrating privacy protection methods into research and patient clinical care; establishing a consent and consultation group to study the consent and privacy concerns of study participants; and examining public concerns about genomic research and EMRs.

"Our goal is to connect genomic information to high-quality data in electronic medical records during the clinical care of patients ... [to] help us identify the genetic contributions to disease," NHGRI Director Eric Green said in a statement. "We can then equip healthcare workers everywhere with the information and tools that they need to apply genomic knowledge to patient care."

NHGRI last summer announced its intent to fund a second phase of the project that would incorporate information gathered in the first phase "into clinical research and ongoing clinical care." At the time, the institute stated that it would award $22 million over four years to eight study investigators and $3.5 million to a single coordinating center (BI 7/23/2010).

To date, the eMERGE network has identified genetic variants associated with dementia, cataracts, high-density lipoprotein cholesterol, peripheral arterial disease, white blood cell count, type 2 diabetes, and cardiac conduction defects.

In April, the consortium published the first results of a study to determine whether EMR data can be used to identify disease phenotypes with sufficient statistical power for use in genome-wide association studies (BI 4/22/2011). The group also published a separate article that provided a general update of its activities in February (BI 2/18/2011).

A third article published last year detailed Vanderbilt University's efforts to combine data from a DNA biorepository with EMRs to detect known genotype-phenotype associations for five diseases (BI 4/9/2010).

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