February 02, 2021

Emerging Approaches to Managing Disease

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This past summer, UAB joined an NIH consortium aimed at better understanding how to employ genomic risk assessments, especially in minority populations, in managing disease. UAB joined the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, under a $75 million funding provision over five years. The eMERGE Network, which launched in 2007, is supported by the National Human Genome Research Institute.

The funding builds 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.

The funding award established four new clinical sites and six enhanced diversity clinical sites across the U.S. UAB is one of the new enhanced diversity sites, which will recruit a higher percentage of medically underserved patients from diverse ancestries.

Overall, the clinical sites will recruit 25,000 patients. Enhanced diversity sites are charged with recruiting 75% or more subjects from diverse ancestries such as racial or ethnic minority populations, underserved populations, or populations who experience poorer medical outcomes. The sites then conduct and validate genomic risk-assessment and management methods for several common diseases, such as coronary heart disease, stroke, and diabetes.

“There have been more than 4,000 genome-wide association studies conducted that have enabled the development of polygenic risk scores, which can help predict the future risk of many common diseases,” says Nita A. Limdi, Pharm.D., Ph.D. MSPH, professor of Neurology and Epidemiology, director for the program in Translational Pharmacogenomics, associate director at the UAB Hugh Kaul Precision Medicine Institute, and principal investigator for eMERGE at UAB.

However, Limdi says patients of African descent are dramatically underrepresented by those risk scores. “By engaging the diverse patient population we care for, we have the opportunity to validate, adapt and/ or develop polygenic risk scores to predict risk of common diseases for underrepresented populations, specifically African Americans.

By incorporating known clinical and family history related risk we aim to deploy genome informed risk assessments into the electronic medical record for each patient and tailor disease prevention interventions for patients of all race groups,” Limdi says.

“A key component of this effort will be to determine how to integrate clinical data, genomic risk estimates, and family history to deliver disease management recommendations into the EMR for clinicians to be able to receive and respond to the information,” says James Cimino, M.D., professor of Medicine, director of the UAB Informatics Institute, and co-PI for eMERGE. “We will be able to leverage UAB’s strengths in precision medicine and informatics to accomplish this goal. The work we do in eMERGE will lead the way for making personalized medicine the standard of care for all patients and conditions.”

“The vital first step to leverage the power of genomics to prevent disease is to use genomic risk assessments to identify and—where appropriate—pre-treat at-risk patients,” Limdi says. “At UAB, we will bring our expertise and experience to collaborate with the eMERGE investigative team to take this vital first step.”

The multidisciplinary eMERGE team is made up of representatives from the School of Medicine, School of Public Health, School of Health Professions, UAB Health System, HudsonAlpha Institute for Biotechnology, and Washington State University.

– Bob Shepard