Clinical Ethics, Departments of Pediatrics, Medicine, Surgery and the College, MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago Illinois.
Clinical Genetics, Institute of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Pediatr Neurol. 2017 Dec;77:12-22. doi: 10.1016/j.pediatrneurol.2017.08.012. Epub 2017 Aug 25.
We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices.
The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain. The first experimental pilot program for Pompe disease began in 2005 in Taiwan. In 2013, Missouri was the first US state to implement Pompe newborn screening before its inclusion in the Recommended Uniform Screening Panel (RUSP) in 2015 by the Advisory Committee on Heritable Disorders in Newborns and Children (United States). In 2008, SMA was reviewed and rejected for inclusion in the RUSP because no treatment existed. With the approval of nusinersen in late 2016, spinal muscular atrophy is being reconsidered for the RUSP.
A condition should meet public health screening criteria to be included in the RUSP. Duchenne muscular dystrophy, Pompe, and SMA challenge traditional screening criteria: Duchenne muscular dystrophy does not present in infancy and lacks effective treatment; Pompe and SMA may not present until adulthood; and safety and efficacy of long-term intrathecal treatment for SMA is unknown. Potential reproductive benefit and improved research recruitment do not justify a public health screening program.
This review provides lessons that could benefit US public health departments as they consider expanding screening to include neuromuscular disorders like Duchenne muscular dystrophy, Pompe, and SMA.
我们旨在回顾三种神经肌肉疾病（杜氏肌营养不良症、庞贝病和脊髓性肌萎缩症[SMA]）的新生儿筛查历史，以确定最佳实践。
杜氏肌营养不良症的新生儿筛查历史始于 1975 年，当时美国两家中西部医院在新生儿血斑上测量肌酸激酶。在接下来的 40 年里，全球开展了十个项目，但目前都没有开展。第一个庞贝病实验性试点项目于 2005 年在台湾开始。2013 年，密苏里州成为美国第一个实施庞贝病新生儿筛查的州，随后于 2015 年被新生儿和儿童遗传性疾病咨询委员会（美国）纳入推荐统一筛查小组（RUSP）。2008 年，由于没有治疗方法，SMA 被重新考虑纳入 RUSP。2016 年底，nusinersen 获得批准，脊髓性肌萎缩症正在重新考虑纳入 RUSP。
要纳入 RUSP，一种疾病应符合公共卫生筛查标准。杜氏肌营养不良症、庞贝病和 SMA 挑战传统的筛查标准：杜氏肌营养不良症不在婴儿期出现，且缺乏有效治疗；庞贝病和 SMA 可能要到成年后才会出现；SMA 长期鞘内治疗的安全性和疗效尚不清楚。潜在的生殖益处和改善的研究招募并不能证明公共卫生筛查计划是合理的。
本综述提供了一些经验教训，美国公共卫生部门在考虑扩大筛查范围以纳入神经肌肉疾病（如杜氏肌营养不良症、庞贝病和 SMA）时可能会从中受益。
