UAB advances in genomic medicine by joining National Institutes of Health consortium

UAB’s advancement in genomic medicine could soon help you catch and treat illnesses like diabetes and heart disease early. Here’s how.

In an announcement on July 1, UAB will be joining a National Institutes of Health (NIH) consortium under a $75M funding provision over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network.

The group is part of the eMERGE Network, which was created in 2007, and is supported by the National Human Genome Research Institute, which is part of the NIH.

What is genomic medicine?

First, you should know that genomics is the all-encompassing study of a person’s genes, known as genomes.

Genomic medicine is an emerging medical discipline involving a patient’s genomic information pertaining to their individual clinical care. Applications include diagnostic or therapeutic influence on potential health outcomes and future policy making.

Learn more about genomics, the human genome and DNA here.

Funding for the Project

The new funding award will establish four new clinical sites and five enhanced diversity sites from the US. UAB, which is one of the enhanced diversity sites, will recruit a minimum of 75% of its patients from diverse ancestries such as these:

• Racial or ethnic minorities
• Underserved populations
• Groups with below average medical outcomes

According to UAB neurology and epidemiology professor Nita Limdi, Pharm.D, Ph.D., there have been more than 4,000 genome-wide association studies conducted that have allowed the development of polygenic risk scores, which can be used to predict the risk of many common diseases, including:

• Coronary Heart Disease
• Diabetes
• Stroke

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

How will this be accomplished? 

This will be achieved by collecting clinical and family history data along with genomic data to create a genomic risk assessment, which Limdi said is a vital first step in leveraging the power of genomics to prevent disease. 

“At UAB, we will bring our expertise and experience to collaborate with the eMERGE investigative team to take this vital first step,” said Limdi.

Another Key Component

Another important step in the process is to integrate clinical data, estimate genomic risk and study family histories to deliver disease management recommendations in the Electronic Medical Record (EMR) so that clinicians are able to receive and respond to the information.

“We will be able to leverage UAB’s strengths in precision medicine and informatics to accomplish this goal.” 

James Cimino, M.D., Professor of Medicine, Director of the UAB Informatics Institute and Co-PI for eMERGE

For more on how UAB is leading the way in the field of genomic medicine, check out our story on their new genomic research facility.