The University of Alabama at Birmingham has received the first round of federal funding for a multiyear initiative to expand genomic screening in primary care and identify serious inherited health risks before disease develops.
The National Human Genome Research Institute, part of the National Institutes of Health, awarded the grant. UAB could receive approximately $4.9 million through 2031 if future funding continues at similar levels.
UAB will participate in the national Population Genomic Screening Network, which will examine how genomic screening can be incorporated into routine primary care. The network plans to enroll approximately 20,000 participants nationally, including 5,000 through UAB.
Nita Limdi, Ray L. Watts, M.D., Heersink Endowed Chair in Neurology, associate dean for genomic medicine in the UAB Marnix E. Heersink School of Medicine and a professor, serves as UAB’s contact principal investigator and co-leads its work.
“Genomic medicine has tremendous potential to transform how we prevent chronic diseases, but too many people who carry actionable genetic risks remain unaware,” Limdi said. “By integrating genomic screening into primary care, we can identify risk earlier, empower patients with important health information and help providers intervene before serious disease develops.”
Many people with inherited risks for cardiovascular disease, cancer and other serious conditions do not know they are at greater risk. Traditional genetic testing often begins only after a person develops symptoms or reports a significant family history.
The UAB project seeks to close that gap by offering genomic screening directly through primary care settings.
Researchers will focus on several serious but potentially preventable genetic conditions, including hereditary breast and ovarian cancer syndrome, Lynch syndrome and familial hypercholesterolemia. The Centers for Disease Control and Prevention classifies those conditions as Tier 1 genomic applications because early detection can lead to interventions that may reduce illness and death.
The project also may screen for transthyretin amyloidosis, hypertrophic cardiomyopathy and APOL1-associated hypertensive kidney disease because of their relevance to UAB’s patient population.
Participants and their primary care providers will receive screening results and evidence-based recommendations for follow-up care. Researchers will track participants for 24 months to evaluate how the information affects preventive treatment, referrals, health behaviors and patient outcomes.
UAB investigators also will work with physicians, clinic employees, patients and community members to develop educational materials and strategies for introducing genomic screening across different populations and health care settings.
“For too long, many people with actionable genetic risks have remained unidentified until they develop serious disease,” Limdi said. “This initiative gives us an opportunity to shift from reactive care to proactive prevention by bringing genomic screening into primary care.”
“By working closely with patients, providers and communities, we hope to develop an evidence-based model that empowers individuals with genetic health information earlier and helps health care systems integrate genomic medicine in ways that are sustainable, equitable and impactful,” she said.
Other network institutions include Yale University, Mass General Brigham, the University of Pennsylvania, Wake Forest University and the University of Illinois Chicago. The University of Washington will serve as the coordinating center, and Baylor College of Medicine will serve as the sequencing center.
Pankaj Arora, a professor in the Division of Cardiovascular Disease, and Larry Hearld, a professor in the Department of Health Services Administration, are UAB co-principal investigators.
The broader UAB team includes researchers from genetics, emergency medicine, internal medicine, family and community medicine, cancer genetics, clinical informatics, implementation science and community engagement.
The project builds on UAB’s previous work through the Alabama Genomic Health Initiative, eMERGE, IGNITE and the federal All of Us Research Program.
National Human Genome Research Institute award U01HG014610 supports the research.
