Population Genomic Screening in Primary Care Leveraging Community Partnerships

Genetic conditions with actionable interventions affect nearly 10% of populations in the United States and internationally - if one includes both common (e.g., hereditary breast & ovarian cancer) and rare diseases. Advances in genomic screening have created economies of scale to sequence large populations at increasingly less cost and yet, economic, practical, and social determinants of health are persistent barriers to achieving the full population health potential of screening. Across the globe, academic and community-based health and public health systems are making inroads into approaches that meet patients where they are, to enable access to and partnerships with genomically-informed primary care teams, so that the life-saving impact of prevention can more equitably serve the health of society. Here we feature research programs, community partnerships, and multi-method research that will serve as a model to wider implementation and impact. This Research Topic will feature scholarly work that addresses these grand challenges:1) Germinal research methodology design that is the produce of authentic partnerships between academic-based researchers and community-based organizations;2) Genomic screening programs with wide application (CDC Tier 1 and other actionable genomic applications) as part of health systems, clinical trial networks, or public health (e.g., newborn screening);3) T1 to T4 clinical and translational research from innovations that vastly expand access and reduce risk or social or emotional barriers to screening (e.g., self-swabbing DNA, use of mobile vans, care navigators through multiple points on the care continuum for test positive scenarios - including relevant interventions from chemoprevention (e.g., tamoxifen), immunotherapies, novel therapeutics for germline conditions (e.g., familial hypercholesterolemia & PCSK9 inhibitors), precision cancer care for somatic mutations, and gene editing;4) Methodologies that include clinical trials (RCTs or pragmatic trials), mixed-methods, cohort studies, design thinking/bioengineering, and use of implementation science frameworks;5) Economic modeling of cost-benefit or cost-utility that addresses concerns of payers. Topic editors: Sean P David, MD, SM, DPhil, PLDA, Robert Schnoll, Sally E Jensen, Lori Orlando Source: https://www.frontiersin.org/research-topics/77156/population-genomic-screening-in-primary-care-leveraging-community-partnerships