A year ago, UAB was selected as one of the top national research centers invited to join an NIH consortium in a five-year program to create a tool that will help physicians quickly assess and better manage their patients' genomic risk for developing common diseases. It will also suggest actionable interventions to prevent, delay or ease the effects of the disease and then follow outcomes to measure the effectiveness of those interventions.

"This is the first project that combines genomic data with family history and clinical data along with social and environmental determinants of disease to provide a genome-informed risk assessment for common diseases," Nita Limdi, PharmD, PhD said. Principal investigator for eMERGE at UAB (NIH Electronic Medical Records and Genomics Risk Assessment and Management Network), Limdi is director of UAB's program of Translational Pharmacogenomics and codirector of the Hugh Kaul Personalized Medicine Institute.

In the first year, seven subgroups have been hard at work defining parameters, setting up protocols, and developing strategies for collecting information and moving it into clinical practice. When preliminary plans are approved, which is expected to be soon, UAB will begin recruiting a diverse cohort of 2500 participants.

"Each center participating in the network has a focus in addition to the primary mission. Some are working on legal aspects or ethical concerns like protecting privacy. For UAB, that focus is diversity," Limdi said. "To this point, most genomic data has been gathered from populations of European ancestry. One of the major goals of this study is to understand how genomic data reflects health risks in other populations, particularly people of African descent and underserved communities."

It has long been established that the risks for some disease, as well as the response to treatments, can vary significantly in people with different ethnic backgrounds. One of UAB's strengths is its experience caring for African Americans.

"In addition to the large number of African Americans who come to our clinics and hospitals, we have included many in previous studies. Our REGARDS study of regional differences in hypertension and related disorders recruited 30,000 people, including 40 percent who are of African American ancestry. In the eMERGE study, we want to make sure that the genomic information we collect and interventions we recommend hold true for everyone and that people of all ethnic backgrounds will benefit from our work."

When plans are finalized, UAB will begin recruiting participants between the ages of three and 75, with a goal of including a high percentage from underserved communities and diverse genomic backgrounds.

The network has asked each center to propose 20 common diseases that meet the criteria of study. "The diseases we will be studying must have a genomic component and be widely found in all populations. To help the most people, in this particular study, we won't be looking at disorders found only in one ethnic group," Lindi said. "The disease, whether adult or pediatric, must also be actionable. That action may be medication, but it could also be changes in nutrition, activity, habits or environment. In some disorders, it might be earlier screening or more frequent testing,"

Thus far, UAB has identified 10 major diseases that meet all criteria.

"In analyzing the genomic risks of participants, we might find an indication of BRACA, signaling a strong risk for breast cancer," Lindi said. "In that case, we could let the woman's physician know she needs to be screened early and often. She would in turn be able to warn relatives of the risk and perhaps save their lives."

Finding the best ways to translate this new information for clinical use is also one of the primary goals of the project.

"Co-principal investigator James Cimino, MD, is director of the UAB Informatics Institute," Limdi said. "He is leading one of the work groups and using UAB's strong background in informatics and personalized medicine to take the information we find into patient records where physicians can use it in a clinical setting to assist in patient care. We're also looking for the best ways to communicate with clinicians so they can quickly get up to speed, perhaps through a brief flier or message, or a short video."

Another challenge for informatics is to find a way to track risk factors as predictors of disease, whether clinicians are using the information to optimize care, and whether those changes are improving outcomes.

"We need to be able to follow the patient with having a researcher go through every file. We're developing an algorithm using coding to flag changes in health status that might be linked to a genomic risk," she said.

In the case of a patient with a strong genomic risk for type 2 diabetes, the physician may want to begin using metformin earlier, or to try nutrition, exercise and lifestyle intervention along with more frequent testing to monitor blood sugar levels.

"As time goes on, we would like to check back to see whether knowing about the genomic risk of diabetes has helped to prevent or delay onset, or to lessen the impact on the patient's kidneys, vascular system, eyes and overall health before the damage is done," Lindi said.

In four years when the project is complete, physicians will have a powerful new tool to improve and personalize patient care in many common diseases. It could be the first step toward better, more personalized treatment for heritable disorders in years to come.