UAB joins NIH consortium on genomics for assessing and managing risk of common diseases2

Genetic assessments can help predict the risk of common diseases, and UAB is part of a national study to better understand and implement polygenic risk scores

eMerge2Genetic assessments can help predict the risk of common diseases, and UAB is part of a national study to better understand and implement polygenic risk scoresThe University of Alabama at Birmingham will join a National Institutes of Health consortium aimed at a better understanding of how to employ genomic risk assessments, especially in minority populations, in managing disease. 

UAB joins the NIH Electronic Medical Records and Genomics Genomic Risk Assessment and Management Network, under a $75 million funding provision over five years announced today. The eMERGE Network, which launched in 2007, is supported by the National Human Genome Research Institute.

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.

The new funding award will establish four new clinical sites and five enhanced diversity clinical sites from around the United States. 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 20,000 patients. Enhanced diversity sites are charged with recruiting 75 percent or more subjects from diverse ancestries 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, 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 be used to predict the risk of many common diseases,” said Nita Limdi, Pharm.D., Ph.D., professor of neurology and epidemiology, director for the program in Translational Pharmacogenomics, associate director at the UAB Hugh Kaul Personalized Medicine Institute and principal investigator for eMERGE at UAB.

Nita LimdiNita Limdi, Pharm.D., Ph.D.However, Limdi says those risk scores were derived primarily from patients of European or Asian descent. Patients of African descent are dramatically underrepresented by the scores.

“Our challenge will be to recruit and collect more data on underrepresented populations and use that data to better understand how we can employ genomic scores to predict disease risk in people of other races,” Limdi said. 

The clinical sites will gather clinical and family history data along with genomic data to create a genomic risk assessment, which can be incorporated into the electronic medical record for each patient.  

“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,” said 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 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 said. “At UAB, we will bring our expertise and experience to collaborate with the eMERGE investigative team to take this vital first step.”Head shot of Dr. James Cimino, MD (Professor, Internal Medicine; Director, Informatics Institute), 2015.James Cimino, M.D.

The multidisciplinary 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

Co-investigators are Bruce Korf, Ph.D., UAB chief genomics officer; Marguerite Irvin, Ph.D., Department of Epidemiology; Mark Beasley, Ph.D., Department of Biostatistics; Hemant Tiwari, Ph.D., Department of Biostatistics; Eta Berner, Ed.D., Department of Health Services Administration; Jorge Alsip, M.D., chief medical information officer; Devin Absher, Ph.D., HudsonAlpha Institute for Biotechnology; and Thomas May Ph.D., Washington State University.