Study sample and study selection

Study participants will be recruited from three healthcare facilities in North Carolina that are characterized as either academic or community institutions: the University of North Carolina at Chapel Hill/UNC Health (UNC), Mission Health/Healthcare Centers of America (Mission/HCA), and East Carolina University (ECU). These institutions include catchment areas that span the state from east to west and serve a highly diverse patient population, including significant proportions of medically underserved individuals as well as those from racial or ethnic minority groups that are under-represented in research; both considered groups-of-interest in this study. Each partner site will include either a Pediatric Genetics clinic (Mission/HCA and ECU) or both Pediatric Genetics and Pediatric Neurology clinics (UNC). These clinics provide care to a high proportion of patients with phenotypes caused by heterogeneous genetic conditions. Specific medical doctors, genetic counselors, nurses, and certified medical assistants from each clinic will serve as the study’s clinicians. Patients with first-time visits scheduled in study clinics with study clinicians will comprise the pool of potential study participants.

One study goal is to enroll at least 60% of the NCGENES 2 study participants from medically underserved and/or historically under-represented minority populations. To achieve this goal, we will implement a randomized recruitment sampling method to select potential participants to approach for recruitment. This selection method will allow for oversampling of participants from those populations and will provide a flexible alternative to frequency matching [56]. Potential participants will be individually randomized to be recruited or not based on investigator-imposed, clinic-specific recruitment probabilities determined by the demographic characteristics of the clinics’ patient population by race, ethnicity, and insurance status. In NCGENES 2, pediatric participants will be defined as underserved if they have no health insurance or are covered by a publicly funded children’s health insurance program, such as North Carolina (NC) Medicaid or NC Health Choice. They will be defined as historically under-represented in genomic research if they are non-White or Hispanic. Participants selected for the study will then be evaluated for study eligibility.