Improving Healthcare Delivery for Infants with Positive Newborn Screening Results

描述（由申请人提供）：由于最近一种新的筛查技术串联质谱法的普及，国家新生儿筛查项目正处于重大扩展之中。在这种情况下，筛查的疾病数量急剧增加，已经对卫生保健系统在与家庭的沟通以及在评估初步阳性新生儿筛查结果过程中为婴儿组织和提供卫生保健服务方面造成了挑战。目前，在评估过程中，我们对影响父母理解的因素以及这种理解可能对相关结果（如父母焦虑、医疗保健使用率增加）的影响的理解存在根本性的差距。拟议的项目旨在探索和检查参与三个关键阶段的关键利益相关者（父母，初级保健医生，临床遗传学家和州新生儿筛查官员）在新生儿阳性筛查结果沟通方面的经验和偏好：通知初始阳性筛查；跟踪检测和评价；并通知家长最终的评估结果。该项目将在密歇根州和北卡罗来纳州进行，这两个州扩大了新生儿筛查。该项目最终将制定一项有说服力的实施计划，以便在新生儿筛查阳性结果评估期间组织和提供保健服务。在这些研究阶段的职业发展活动将包括定性研究方法、高级调查方法和政策分析方面的正式培训，以及由专门和经验丰富的导师组成的小组的指导和指导。在拟议的研究项目结束时，候选人将成为组织和向初步新生儿筛查结果为阳性的婴儿提供医疗保健服务的专家，并将提交一份由研究者发起的拨款申请，以评估为提供这些服务而制定的实施计划。由于最近在新生儿筛查小组中检测到的疾病数量持续增加，因此，更好地了解新生儿筛查结果初步呈阳性的婴儿的医疗保健服务的组织和提供，是在州新生儿筛查计划中提供高质量服务的重要一步。

DESCRIPTION (provided by applicant): State newborn screening programs are in the midst of a significant expansion due to the recent diffusion of a new screening technology, tandem mass spectrometry. In this context, a dramatic increase in the number of disorders being screened is already creating challenges for the healthcare system in terms of communication with families, and the organization and delivery of healthcare services for infants during the process of evaluating initial positive newborn screening results. Currently, there exists a fundamental gap in our understanding of the factors that influence parental understanding during this evaluation process and the impact this understanding may have on related outcomes (e.g., parental anxiety, increased healthcare utilization). The proposed project aims to explore and examine the experiences and preferences regarding communication about positive newborn screening results of key stakeholders (parents, primary care physicians, clinical geneticists, and state newborn screening officials) involved in the three key stages: notification about the initial positive screen; follow-up testing and evaluation; and parental notification of the final results of the evaluation. The project will be conducted in Michigan and North Carolina, two states with expanded newborn screening. The project will culminate in the development of a cogent implementation plan for the organization and delivery of healthcare services within this evaluation period of positive newborn screening results. Career development activities during these phases of research will include formal training in qualitative research methods, advanced survey methodology, and policy analysis, along with guidance and direction from a panel of dedicated and experienced mentors. By the end of the proposed research project, the candidate will be an expert in the organization and delivery of healthcare services to infants with initial positive newborn screening results and will submit an investigator-initiated grant application to evaluate the implementation plan developed for the delivery of these services. Due to the recent, and continued, increase in the number of disorders tested on newborn screening panels, a greater understanding of the organization and delivery of healthcare services to infants with initial positive newborn screening results is an essential step towards provision of high quality services within state newborn screening programs.