Population Genomic Screening in Primary Care

Despite advances in our understanding of genetic basis of disease risk and advances in technology enabling genomic risk assessment, implementation of genomic medicine is limited. Many individuals at risk for common, actionable genetic conditions remain undiagnosed and most are unaware of their risk. Population genomic screening offers the opportunity to address these gaps by enabling early detection and intervention. Incorporating genomic screening into primary care could transform chronic disease prevention. To generate evidence on feasibility, clinical utility, and impact on health, working with our community stakeholders, we will develop and implement a pilot program for population genomic screening for common, actionable genetic conditions in primary care. In collaboration with the network, we will select conditions for which genomic screening can have a high-impact and strong evidence of preventing or mitigating disease severity. We propose screening for the three Centers for Disease Control and Prevention (CDC) Tier1 conditions (hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia) and three additional conditions (Transthyretin amyloidosis, Hypertrophic cardiomyopathy, and APOL1 hypertensive renal disease) each chosen due to their particular significance in our patients and communities. We will engage stakeholders (PCPs, clinic staff participants, community members) to inform implementation and evaluation of genomic screening. We will develop a network-wide protocol to deploy the population genomic screening for the selected conditions in 5000 participants at our site (20,000 across the network). We will return results to the provider and participant and assess adoption of recommendations. Finally, we will evaluate participant outcomes over 24 months and examine the impact of the chosen implementation strategies on the adoption and integration of population genomic screening in primary care and share the implementation framework for population genomic screening in primary care. We bring together a team of national leaders with expertise in chronic disease genomics, clinical genetics, cancer genetics, cardiogenomics, implementation science, community engagement, and clinical informatics to translate genomic insights into clinical care. In collaboration with the community, clinical stakeholders, and the network, we will establish best practices for broader adoption of population genomic screening in primary care. Project Number: 1U01HG014610-01 | Fiscal Year: 2026 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: NITA LIMDI (+2 co-PIs) | Institution: UNIVERSITY OF ALABAMA AT BIRMINGHAM, BIRMINGHAM, AL | Award Amount: $831,462 | Activity Code: U01 | Study Section: Special Emphasis Panel[ZHG1 HGR-W (M1)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11238753