The National Institutes of Health (NIH) has announced it will provide $75 million to continue funding its Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network—with a new emphasis on expanding genetic diversity within its studies.
NIH’s National Human Genome Research Institute’s (NHGRI) first launched the eMERGE Network in 2007 to use electronic health records and large biorepositories for genomics research that could be applied to clinical care. Now, “more recent research has highlighted the need to generate datasets from more diverse populations to better understand estimates of disease risk in the general population,” according to Prabarna Ganguly, Ph.D., science writer and editor for NHGRI, in a July 1 announcement.
The funding will begin this year and continue over the next five years, Ganguly said, with $61 million going directly to four clinical sites, including the Mayo Clinic, Vanderbilt University Medical Center, Brigham and Women’s Hospital and Northwestern University. NIH plans for these sites to collectively recruit some 10,000 patients—with 35 percent to come from diverse populations.
In addition, NIH will fund six new “enhanced diversity clinical sites,” to include: the University of Alabama, the Icahn School of Medicine at Mount Sinai, Cincinnati Children’s Hospital Medical Center, Columbia University, the Children’s Hospital of Philadelphia, and the University of Washington Medical Center. These sites will recruit about 15,000 patients, with 75 percent or more coming from diverse ancestries, Ganguly said.
“The goal of the clinical sites is to recruit participants from diverse groups, such as racial or ethnic minority populations, underserved populations, or populations who experience poorer medical outcomes,” Ganguly said. The sites will then conduct and validate genomic risk-assessment and management methods for a number of common diseases, including coronary heart disease, Alzheimer’s disease, and diabetes.
The need for expanding the diversity of NIH’s genetic pool for research is driven by the lack of diversity in polygenic risk scores, a new approach for assessing disease risk based on DNA variants. Until recently, these scores have “almost exclusively involved people of European ancestry,” Ganguly said. “It is not clear how well the findings from these initial studies can be used for risk assessment in non-European ancestry populations.”
NIH will also focus on adding new research variables such as age, body-mass index, alcohol use and other clinical data—all of which can affect risks for contracting diseases, Ganguly said.
The newly funded eMERGE sites will also leverage the NHGRI Genomic Data Science Analysis, Visualization, Informatics Lab-space (AnVIL) cloud-based resource to develop tools and workflows for generating integrated risk scores to be shared with the biomedical research and clinical genomics communities, Ganguly said. In addition, the agency will inform clinical decision support platforms with the data it collects from the eMERGE electronic health records.
NIH has allotted $13.4 million of the funding to go to Vanderbilt University for an eMERGE Network coordinating center.