Researchers at UAB are leading a national effort to determine whether delivering personalized genetic risk information to patients and their doctors can improve preventive health care for common chronic diseases.
Chronic diseases, including heart disease, diabetes, kidney disease and cancer, account for more than 90 percent of United States health care spending. Historically, health care has focused on treating disease after it develops, rather than identifying people at high risk early enough to prevent or delay illness..
A recent study published in the American Journal of Human Genetics outlines the design framework of one of the largest real-world evaluations to date of genome-informed risk assessment in clinical care. The research, led by Nita Limdi, PharmD, PhD and Ray Watts, MD, brings together investigators from the Electronic Medical Records and Genomics (eMERGE) Network, and 10 health systems including UAB, Vanderbilt University Medical Center, the University of Washington, Harvard Medical School/Mass General Brigham, Northwestern University, Mount Sinai Hospital, Mayo Clinic, Columbia University, Cincinnati Children’s Hospital Medical Center and Children’s Hospital of Philadelphia.
Advances in genomics have made it possible to estimate an individual’s inherited risk for certain conditions by analyzing polygenic risk scores (PRS), as well as rarer genetic variants with stronger effects. While these tools are increasingly available, there has historically been limited evidence showing whether providing this information improves real-world clinical outcomes.
To address this gap, the eMERGE study has delivered genome-informed risk assessment reports to 23,840 adults and children, along with their health care providers across participating sites nationwide. Each report combined genetic data with clinical factors and family health history to estimate risks for 11 chronic conditions: asthma, atrial fibrillation, breast cancer, chronic kidney disease, coronary heart disease, colorectal cancer, hypercholesterolemia, obesity, prostate cancer, Type 1 diabetes and Type 2 diabetes. The reports included evidence-based recommendations for follow-up care, such as earlier screening, lifestyle changes, or additional clinical evaluation and treatment.
“The eMERGE study’s goal is to determine whether PRS can be applied to stratify individuals’ risk for multiple chronic conditions,” Limdi said.
The study tracks measurable outcomes within health care systems, including whether patients and providers follow recommended preventive actions, whether conditions are diagnosed earlier, and whether treatments are started or adjusted based on risk information.
As genetic testing becomes more common, health care systems will need to facilitate the use of genomic risk information to guide care. Findings from this study will help inform future clinical guidelines, health system policies and research on the role of genomics in disease prevention.
“Through this work, we are establishing a scalable implementation framework for integrating genomic information into routine care and generating critical evidence on its effectiveness for population risk stratification for the purpose of preventing common chronic diseases,” Limdi said.
