Table1_Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).DOCX

Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion.

每年，通过基于人群的新生儿筛查（NBS），大约每294名新生儿中就有1名被识别出患有可导致早期治疗的疾病，在某些情况下，甚至可以挽救生命。在新生儿筛查中，基因组技术的快速进步为筛选、诊断和治疗提供了显著扩展疾病和受影响个体数量的可能性。然而，在美国，NBS的扩展进展缓慢，几乎总是按条件逐个和按州逐个进行，目标是按照联邦推荐的统一清单对所有条件进行筛查。新生儿筛查转化研究网络（NBSTRN）开展了NBS扩展研究，旨在描述当前实践、识别扩展挑战、概述NBS改进领域，并提出如何利用模型评估变化和改进的方法。NBS扩展研究包括专家研讨会、临床医生调查、分析来自各州NBS项目在线存储库的数据、已完成试点项目的报告和出版物、联邦委员会报告和会议记录，以及开发用于解决研究发现的模型。本文（第一部分）报告了NBS扩展研究的设计、执行和结果。研究发现，美国NBS扩展的能力存在差异，全国范围内对新条件的采纳平均需要9.5年。确定了四个导致和/或复杂化NBS扩展的因素。相关配套论文（第二部分）针对每个因素提出了一种用例，并突出建模如何解决这些NBS扩展的挑战。