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-串联质谱仪的推广，国家新生儿筛查项目正在显著扩大。在这种情况下，正在筛查的疾病数量的急剧增加已经给医疗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的过程中为婴儿组织和提供保健服务方面带来了挑战。目前，在评估过程中影响父母理解的因素以及这种理解可能对相关结果产生的影响(例如，父母焦虑、医疗保健利用率增加)方面，我们的理解存在根本差距。拟议的项目旨在探讨和审查在三个关键阶段中涉及的关键利益攸关方(父母、初级保健医生、临床遗传学家和国家新生儿筛查官员)关于新生儿筛查阳性结果的沟通的经验和偏好：关于初始阳性筛查的通知；后续测试和评估；以及父母对评估最终结果的通知。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范围。该项目最终将为在新生儿筛查结果呈阳性的评估期内组织和提供保健服务制定一个令人信服的执行计划。在这些研究阶段的职业发展活动将包括关于定性研究方法、高级调查方法和政策分析的正式培训，以及由一群敬业和有经验的导师提供的指导和指导。在拟议的研究项目结束时，候选人将成为组织和向新生儿筛查结果初步呈阳性的婴儿提供保健服务的专家，并将提交由调查员发起的赠款申请，以评估为提供这些服务而制定的执行计划。由于最近在新生儿筛查小组上检测的疾病数量不断增加，更好地了解为新生儿筛查结果初步阳性的婴儿组织和提供医疗服务的情况，是在州新生儿筛查计划内提供高质量服务的关键一步。

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.