Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
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DOI：
10.3390/ijns6020035
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发表时间：
2020-06-01
影响因子：
3.5
通讯作者：
Ojodu, Jelili
中科院分区：
文献类型：
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作者：
Kellar-Guenther, Yvonne;McKasson, Sarah;Ojodu, Jelili
数据来自39个新生儿筛查(NBS)项目，以深入了解在全州范围内实施庞贝、粘多糖I型(MPS I)、肾上腺脑白质营养不良(ALD)和脊髓肌萎缩(SMA)筛查所需的时间和因素。对全州新生儿筛查计划的准备情况进行了四个阶段的评估：(1)批准筛查；(2)实验室、后续和信息技术能力；(3)教育；(4)全州新生儿筛查的实施。17个州(43.6%)至少在全州范围内实施了至少一种新的障碍。这些州报告说，在全州范围内实施庞贝和MPS I筛查花了28个月，ALD花了30.5个月，SMA花了20个月。使用生存曲线分析来考虑仍在进行的州，估计全州筛查的中位时间庞贝增加到75个月，MPS I增加到66个月。当考虑到每个准备好的部分需要多长时间完成时，实验室准备好是较长的过程之一，大约需要39个月。与国家统计局其他项目的合作和招聘是最常提到的实施新生儿筛查的促进者。人员配备或无法同时雇用实验室和后续工作人员是最常提到的障碍。
Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.