Integrating Nurse Champion Model for Group Reproductive Genetic Counseling for Sickle Cell Hemoglobinopathies into Primary Care: A Pilot Implementation Science Study

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ABSTRACT: Sickle cell disease (SCD) is a significant contributor to child morbidity and mortality. In sub-Saharan Africa (SSA), 90% of the children born annually with SCD will die before their fifth birthday, often undiagnosed. To decrease the high birth incidence of SCD requires identifying at-risk individuals through carrier screening, genetic counseling, and informed reproductive decision-making. The professional genetic counseling workforce capacity is severely limited in SSA. Nurses, however, comprise the single largest category of available health workers in SSA. Therefore, upskilling of nurses to provide genetic counseling offers a logical alternative workforce solution. Our primary objective in this three-year R21 proposal is to assess the acceptability and feasibility of a multi- faceted, integrated Nurse Champion model to deliver genetic counseling and carrier screening for SCD. Our strategy is to use a type-2 hybrid implementation-effectiveness design to evaluate patient uptake of services and satisfaction, organizational readiness, provider acceptance, workflows, and resource use. Sierra Leone, a SCD endemic country and location of our current SCD research and clinical programs, presents an ideal study site. In this feasibility study, the aims include developing and assisting local hospitals in implementing the model, evaluating processes/determinants of model’s implementation, and evaluating the model’s acceptability and effects on provider and client outcomes. Using implementation science frameworks, our research team will iteratively engage key stakeholders to inform an intervention plan. The evidence-informed Nurse Champion platform will frame the implementation model and include pre-test counseling and nurse-administered genetic screening. Nurses will complete a comprehensive provider training program before implementing the model. Three specific aims undergird our study: (1) Assess barriers and facilitators to primary health center provision of genetic counseling with a nurse champion model; (2) Finalize an implementation plan for the intervention using Implementation Mapping and stakeholder input; and (3) pilot the nurse champion model in two primary health centers and evaluate determinants and implementation costs. We will describe developing and implementing the model using implementation science frameworks, field observations, qualitative interviews, and implementation mapping to identify barriers/enablers. The intervention will be evaluated qualitatively and quantitatively. A preliminary costing assessment will consider the nurses and research study financial outlays. This research's main outcome is expected to be a replicable and scalable implementation model that will foster genetic counseling and carrier screening for SCD. At the conclusion of this project, we expect to have a tested, scalable model for implementing and maintain genomic health service intervention for nurses in SSA that could be readily adapted to low-resource settings in the US, where there is a profound need for such approaches.