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The eMERGE Network has conducted research on how to effectively use electronic health records and large biorepositories for genomics research in order to eventually integrate genomic information into clinical care.
The funding will build upon the existing eMERGE network to support both a coordinating center and clinical sites specifically focused on better understanding disease risk and susceptibility by combining genomic and environmental factors and investigating how future findings can be used to help clinicians and patients manage disease risk.
About $61 million in total will be awarded over a period of five years to four clinical and six enhanced diversity clinical sites from around the United States. The enhanced diversity clinical sites will recruit a higher percentage of patients from diverse ancestries. NIH said $13.4 million will be awarded for an eMERGE Network coordinating center at Vanderbilt University.
The new clinical sites will be led by:
• Iftikhar J. Kullo, M.D., at Mayo Clinic, Rochester, Minnesota
• Dan M. Roden, M.D., at Vanderbilt University Medical Center, Nashville, Tennessee
• Elizabeth W. Karlson, M.D., at Brigham and Women’s Hospital, Boston
• Rex Chisholm, Ph.D., at Northwestern University, Chicago
The new enhanced diversity clinical sites will be led by:
• Nita A. Limdi, Ph.D., at University of Alabama, Birmingham
• Eimear E. Kenny, Ph.D., at Icahn School of Medicine at Mount Sinai, New York City
• John B. Harley, M.D., at Cincinnati Children's Hospital Medical Center
• Chunhua Weng, Ph.D., at Columbia University, New York City
• Hakon Hakonarson, M.D., Ph.D., at Children’s Hospital of Philadelphia
• Gail Pairitz Jarvik, M.D., Ph.D., at University of Washington Medical Center, Seattle
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. The sites will then conduct and validate genomic risk-assessment and management methods for a number of common diseases.
Approximately half of the clinical sites will recruit about 10,000 patients, with the aim that 35 percent or more come from such diverse groups. The other clinical sites, called enhanced diversity clinical sites, will recruit about 15,000 patients, with 75 percent or more coming from diverse ancestries.
To date, polygenic risk scores, a new approach for assessing disease risk based on DNA variants, have been developed and validated in studies that almost exclusively involved people of European ancestry. It is not clear how well the findings from these initial studies can be used for risk assessment in non-European ancestry populations. In addition, calculating polygenic risk scores usually do not include variables such as age, body-mass index, alcohol use and other clinical data, all of which can affect an individual’s risk for certain diseases.
The new sites within the eMERGE Network aim to investigate ways to incorporate additional clinical data into the risk score calculations. Researchers have termed this combined score as “genomic risk assessment” or “integrated risk score.”
The new eMERGE Genomic Risk Assessment and Management Network will also develop ways to better incorporate clinical decision support into clinical practice.
The sites will use the newly developed protocols to estimate risk for common, complex diseases of public health importance (e.g., coronary heart disease, Alzheimer’s disease, and diabetes). They will also look to understand how health management recommendations can be introduced to clinicians using electronic health records. In addition, the sites will provide guidance on how to share genomic-based and integrated risk score information electronically using the FHIR standard, which provides specifications for how to exchange health information electronically.
The eMERGE Network 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, which will be shared with the biomedical research and clinical genomics communities.
