NIH Funds Centers to Improve Genomic Risk Assessment for Diseases

NIH has announced that it will provide $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which aims to establish protocols for improved genomic risk assessment of diverse populations.

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. The sites will combine genomic and environmental factors and investigate how future findings can be used to help clinicians and patients manage disease risks.

Over a period of five years, a total of about $61 million will be awarded to four clinical and six enhanced diversity clinical sites across the US. The enhanced diversity sites will recruit a higher percentage of patients from diverse ancestries. NIH will award $13.4 million for an eMERGE Network coordinating center at Vanderbilt University. Funding will go into effect in June 2020.

The clinical sites will aim 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 conduct and validate risk assessment and management methods for a number of common diseases.

Approximately half of the sites will recruit about 10,000 patients, with the goal that 35 percent or more come from 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.

NHGRI first established the eMERGE Network in 2007. Since then, the network has successfully conducted research on how to effectively use EHRs and large biorepositories for genomics research in order to eventually integrate genomic information into clinical care.

More recent research has shown the need to include data 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’s unclear 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 clinical sites within the eMERGE Network seek to investigate ways to incorporate additional clinical data into the risk score calculations. Researchers have called 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 EHRs and provide reminders and prompts to healthcare providers, into clinical practice. This process is called electronic clinical decision support, and is meant to help providers and other healthcare professionals make clinical decisions for their patients.

The sites will leverage the newly developed protocols to estimate risk for common, complex diseases of public health importance, like coronary heart disease, Alzheimer’s disease, and diabetes. The sites will also look to understand how health management recommendations can be introduced to clinicians using EHRs.

Additionally, 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 utilize 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 and clinical genomics communities.