Kellar-Guenther Yvonne, McKasson Sarah, Hale Kshea, Singh Sikha, Sontag Marci K, Ojodu Jelili
Center for Public Health Innovation, CI International, Littleton, CO 80120, USA;
Department of Community and Behavioral Health, Colorado School of Public Health, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Int J Neonatal Screen. 2020 Apr 30;6(2):35. doi: 10.3390/ijns6020035. eCollection 2020 Jun.
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.
从39个新生儿筛查（NBS）项目收集数据，以深入了解在全州范围内开展庞贝氏病、I型黏多糖贮积症（MPS I）、肾上腺脑白质营养不良（ALD）和脊髓性肌萎缩症（SMA）筛查所需的时间和因素。使用四个阶段评估新生儿筛查项目在全州范围内针对某一病症进行筛查的准备情况：（1）筛查批准；（2）实验室、随访和信息技术能力；（3）教育；（4）全州新生儿筛查的实施。17个州（43.6%）至少针对一种新病症实现了全州范围的实施。这些州报告称，在全州范围内实施庞贝氏病和MPS I筛查耗时28个月，ALD筛查耗时30.5个月，SMA筛查耗时20个月。使用生存曲线分析来考虑仍在进行中的州，庞贝氏病全州筛查的估计中位时间增加到75个月，MPS I为66个月。在查看每个准备阶段完成所需的时间时，实验室准备是耗时较长的过程之一，约需39个月。与其他NBS项目的合作和招聘是实施新生儿筛查最常提到的促进因素。人员配备不足或无法招聘实验室和随访工作人员是最常提到的障碍。
