Integrating Nurse Champion Model for Group Reproductive Genetic Counseling forSickle Cell Hemoglobinopathies into Primary Care: A Pilot Implementation ScienceStudy

摘要： 镰状细胞病(SCD)是导致儿童发病率和死亡率的重要因素。在撒哈拉以南非洲(SSA)， 每年出生的SCD儿童中，90%会在5岁之前死亡，通常没有得到诊断。减少 SCD的高出生发病率需要通过携带者筛查、基因筛查来识别高危个体 咨询和知情的生殖决策。专业的遗传咨询队伍能力 在SSA中受到严重限制。然而，护士构成了#年现有卫生工作者中最大的一个类别 SSA。因此，提高护士的技能以提供遗传咨询提供了一个合乎逻辑的替代劳动力解决方案。 我们在这份为期三年的R21提案中的主要目标是评估多个 分面，综合护士冠军模式，为SCD提供遗传咨询和携带者筛查。我们的 战略是使用类型2混合实施有效性设计来评估患者对服务和 满意度、组织就绪性、提供商接受度、工作流程和资源使用。塞拉利昂，一个SCD 我们目前的SCD研究和临床项目的流行国家和地点，提供了一个理想的研究地点。 在这项可行性研究中，目标包括开发和协助当地医院实施该模式， 评估模型实施的过程/决定因素，并评估模型的可接受性和可接受性 对提供者和客户结果的影响。使用实施科学框架，我们的研究团队将 反复接触关键利益相关者，为干预计划提供信息。循证护士冠军 平台将制定实施模式，包括测试前咨询和护士管理的遗传 放映。护士将在实施该模式之前完成全面的提供者培训计划。 支持我们研究的三个具体目标：(1)评估初级卫生中心提供的障碍和促进者 采用护士冠军模式进行遗传咨询；(2)最终确定干预实施计划 实施图和利益相关者输入；以及(3)在两个初级卫生保健中试行护士冠军模式 集中并评估决定因素和实施成本。我们将描述开发和实现 该模型使用实施科学框架、现场观察、定性访谈和 实施映射，以确定障碍/推动因素。干预措施将进行定性评估，并 从数量上讲。初步成本评估将考虑护士和研究的财务支出。 这项研究的主要成果预计是一个可复制和可扩展的实施模式，将促进 SCD的遗传咨询和携带者筛查。在这个项目结束时，我们希望有一个经过测试的， 为SSA护士实施和维护基因组健康服务干预的可扩展模式，可以 要容易地适应美国的低资源环境，那里对这种方法有着深刻的需求。

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.