Population Genomics Screening Network (PGSN) Coordinating Center - PROJECT SUMMARY Translating knowledge of the genetic basis of disease into better health outcomes is the major promise of translational genomic medicine and precision medicine. However, common, actionable genomic conditions with well-understood genetic components and effective early detection and treatment protocols, such as hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia, are too often not detected by current screening protocols. Population-based genomic screening for all adults in primary care settings holds the promise of earlier identification of those at risk, leading to reduced morbidity and mortality through earlier monitoring, treatment, and other interventions. The Population Genomic Screening Network (PGSN) will pilot genomic screening in primary care settings for these and select additional genomic conditions. PGSN will recruit over 20,000 adult participants across diverse clinical settings, targeting health disparities populations. As the PGSN Coordinating Center, we will (1) coordinate and monitor the Network’s design and implementation of the screening program, including serving as the single IRB, coordinating consensus-driven development of a screening program implementation manual, monitoring and reporting on screening program implementation processes, and supporting the Network’s community engagement plan. We will also (2) manage and release the Network’s data, including coordinating and monitoring the secure transfer and management of data across the Network, developing a data model to support data aggregation and harmonization, and producing a cleaned, well-documented, de-identified Network dataset that will be released to the scientific community. We will also (3) contribute to the collaborative development and dissemination of best practice and lessons learned from the pilot program. Lastly, we will (4) provide comprehensive administration of PGSN’s logistics, communication, and governance including scheduling and managing all Network calls, organizing in-person/hybrid meetings, overseeing communications and calendaring, and hosting a comprehensive website.
