PopScreen: Implementing Population Genomic Screening in Primary Care - PROJECT SUMMARY/ABSTRACT There is growing evidence demonstrating the effectiveness of population genomic screening (PGS) in preventive health care. In particular, the Centers for Disease Control (CDC) “Tier 1” conditions [hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH)] have been suggested as a starting point for PGS, and screening the general population for variants associated with these conditions is suggested to be cost-effective under the age of 50, as testing costs decline. However, if PGS is to move forward for real-world clinical implementation, it will require participation by primary care providers (PCPs) who already have important experience managing other aspects of preventive care including immunization, cancer screenings, and other evidence-based interventions. Our team at Precision Population Health (PPH) leverages expertise in primary care, clinical genetics, pragmatic clinical trials, implementation science, health economics, and community engagement in genomic screening. In our prior research, we have consistently engaged with communities across the U.S. to promote the appropriate implementation of PGS in primary care, beginning with our seminal MedSeq Project, one of the original Clinical Sequencing Exploratory Research (CSER) Consortium studies and the first randomized clinical trial of genome sequencing in primary care. In this study, we will conduct a hybrid type 3 effectiveness implementation trial of genomic screening for approximately six actionable genomic conditions, enrolling 5,000 patients in a 12-month period. Our clinical sites include Corewell Health in the Detroit metropolitan area; Veterans Affairs primary care practices across the Southeast, Gulf Coast, and Midwest; and selected Mass General Brigham primary care clinics caring for a predominantly urban population in Eastern Massachusetts. This study will use population health management (PHM) and other implementation science strategies to facilitate the integration of PGS into primary care clinics. Because PHM strategies are standard of practices in primary care and are not inherently resource-intensive, we anticipate that using these strategies to implement PGS will be feasible and acceptable across the range of primary care sites included in this study. We will compare the effects of bundles of strategies of increasing cost on the implementation, effectiveness, and economic outcomes of PGS. Additional analyses will evaluate the impact of these strategies on the uptake of PGS in population subgroups. Ultimately, in collaboration with the Network, we will establish a framework of best practices and lessons learned to ensure effective and sustainable implementation of screening for actionable genomic conditions. This project is significant because it proposes to generate evidence to implement PGS in real-world clinical settings, is innovative in its design, and is feasible due to the expertise of the investigative team and existing partnerships with the clinical sites proposed herein.
