Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
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DOI：
10.3389/fgene.2022.867337
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发表时间：
2022
影响因子：
3.7
通讯作者：
中科院分区：
文献类型：
--
作者：
每年，通过基于人口的新生儿筛查（NBS），每294名新生儿中就有1名被发现患有导致早期治疗的疾病，在某些情况下，挽救生命的干预措施。用于筛查、诊断和治疗新生儿的基因组技术的快速进步有望显著增加受NBS影响的疾病和个体数量。然而，NBS的扩展在美国（US）缓慢进行，并且几乎总是逐个条件和逐个州进行，目的是在联邦推荐的统一小组上筛选所有条件。新生儿筛查转化研究网络（NBSTRN）进行了NBS扩展研究，以描述当前的实践，确定扩展挑战，概述NBS的改进领域，并建议如何使用模型来评估变化和改进。国家统计局的扩展研究包括一个专家研讨会，临床医生的调查，从国家统计局项目的在线存储库，完成试点的报告和出版物，联邦委员会报告和会议记录的数据分析，以及模型的开发，以解决研究结果。这份手稿（第一部分）报告的设计，执行和国家统计局扩大研究的结果。该研究发现，在美国各地扩大NBS的能力是可变的，全国范围内采用新条件的平均时间为9.5年。确定了四个因素，延迟和/或复杂的NBS扩展。配套文件（第二部分）为四个因素中的每一个提供了一个用例，并强调了建模如何解决NBS扩展的这些挑战。
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.
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