BETHESDA, Md.—The National Institutes of Health (NIH) announced today $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establishes protocols and methodologies for improved genomic risk assessments of diverse populations, for the purpose of integrating their use in clinical care. The eMERGE Network is supported by the National Human Genome Research Institute (NHGRI), part of the 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. The network will combine genomic and environmental factors and investigate how future findings can be used to help clinicians and patients manage disease risk.
Around $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 U.S. $13.4 million will be awarded for an eMERGE Network coordinating center at Vanderbilt University in Nashville, Tennessee. Funding went into effect in June.
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. Around half of the clinical sites will recruit about 10,000 patients, aiming to have 35 percent or more coming from diverse groups. The enhanced diversity clinical sites will recruit about 15,000 patients, with 75 percent or more from diverse ancestries.
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. These sites will also provide guidance on how to share genomic-based and integrated risk score information electronically using the Fast Healthcare Interoperability Resources standard.
NHGRI first initiated the eMERGE Network in 2007. Since then, the network has successfully conducted research on how to effectively use electronic health records and large biorepositories for genomics research, in order to integrate genomic information into clinical care. More recent research has highlighted the need to generate datasets from 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 isn’t clear how well the findings from these initial studies can be used for risk assessment in non-European ancestry populations. And calculating polygenic risk scores usually doesn’t include variables like 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.
The new eMERGE Genomic Risk Assessment and Management Network intends to develop ways to better incorporate computer-based programs 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 network will also use the NHGRI Genomic Data Science Analysis, Visualization and 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.