Nita Limdi, Pharm.D., Ph.D., will help lead the Population Genomic Screening Network initiative The University of Alabama at Birmingham has been awarded the first round of funding for a multi-year grant from the National Human Genome Research Institute of the National Institutes of Health to help expand the use of genomic medicine in primary care and improve early detection of serious but preventable genetic conditions such as cardiovascular disorders and hereditary cancers. The award, totaling $4.9 million if funded at a similar level in subsequent years through 2031, supports UAB’s participation in the national Population Genomic Screening Network. Nita Limdi, Pharm.D., Ph.D., professor, Ray L. Watts, M.D., Heersink Endowed Chair in Neurology and associate dean for genomic medicine in the UAB Marnix E. Heersink School of Medicine, serves at the UAB contact principal investigator and co-leads the institution’s efforts.
The program is part of a collaborative Population Genomic Screening Network that includes UAB, Yale University, Massachusetts General Brigham, the University of Pennsylvania, Wake Forest University and the University of Illinois Chicago, with the University of Washington serving as the coordinating center and Baylor College of Medicine as the sequencing center. Together, the network aims to enroll approximately 20,000 participants nationally, including 5,000 participants through UAB.
“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.”
Chronic diseases such as cardiovascular disease and cancer remain among the leading causes of illness and death in the United States. Despite advances in genetic testing and clinical genomics, many individuals with inherited risks for serious health conditions are unaware of their status because current approaches often rely on family history or clinical symptoms to trigger testing. The UAB-led effort seeks to bridge that gap through proactive genomic screening implemented directly within primary care settings.
Co-principal investigators Pankaj Arora, M.D., and Larry Hearld, Ph.D.The initiative will focus on identifying individuals at risk for several high-impact, actionable genetic conditions. These include the Centers for Disease Control and Prevention’s Tier 1 genomic applications (hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia), as well as additional conditions under consideration because of their relevance to UAB’s patient populations, including transthyretin amyloidosis, hypertrophic cardiomyopathy and APOL1-associated hypertensive kidney disease.
As part of the project, genomic screening results will be returned both to participants and to their primary care providers, along with evidence-based recommendations for follow-up care. Researchers will then evaluate how genomic information influences preventive care, referrals, health behaviors and patient outcomes over a 24-month period.
A key component of the initiative is its emphasis on stakeholder engagement. UAB investigators will work closely with primary care physicians, clinic staff, patients and community members to develop culturally relevant educational resources and implementation strategies that support adoption of genomic screening across diverse populations and clinical 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 healthcare systems integrate genomic medicine in ways that are sustainable, equitable and impactful.”
The project builds on UAB’s longstanding leadership in genomics research and implementation, including contributions to the Alabama Genomic Health Initiative, eMERGE, IGNITE and the All of Us Research program. Investigators will leverage expertise across genomics, cardiogenomics, cancer genetics, implementation science, community engagement and clinical informatics to create a sustainable model for integrating genomic medicine into routine healthcare.
Limdi is joined by co-principal investigators Pankaj Arora, M.D., professor in the Division of Cardiovascular Disease in the Department of Medicine, and Larry Hearld, Ph.D., professor in the Department of Health Services Administration, along with a multidisciplinary team that includes co-investigators Nathaniel Robin, M.D., Department of Genetics; James Booth, M.D., Department of Emergency Medicine; Lori Bateman, Ph.D., Division of General Internal Medicine and Population Science, Department of Medicine; and Irfan Asif, M.D., Department of Family and Community Medicine.
This work is supported by the National Human Genome Research Institute of the National Institutes of Health through award U01HG014610. The project is part of the Population Genomic Screening Network, a national effort to evaluate the implementation of genomic screening in primary care settings.