NIH funds centers to improve the role of genomics in assessing and managing disease risk


IMAGE: Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, continues to establish protocols and methodologies to improve genomic risk assessments for diverse populations and to integrate their…
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Credit: Ernesto del Aguila III, NHGRI

The National Institutes of Health has announced the provision of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the National Human Genome Research Institute (NHGRI), part of NIH.

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 (see below for full list). The enhanced diversity clinical sites will recruit a higher percentage of patients from diverse ancestries. $13.4 million will be awarded for an eMERGE Network coordinating center at Vanderbilt University. Funding will go into effect in June 2020.

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% or more come from such diverse groups. The other clinical sites, called enhanced diversity clinical sites, will recruit about 15,000 patients, with 75% or more coming from diverse ancestries.

NHGRI first initiated the eMERGE Network in 2007. Since then, the network has successfully conducted groundbreaking 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.

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.

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 computer-based programs, which analyze electronic health records and provide reminders and prompts to healthcare providers, into clinical practice. This process, called electronic clinical decision support, is meant to help physicians and other healthcare professionals make clinical decisions for their patients.

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 Fast Healthcare Interoperability Resources (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.

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




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