Hale Kshea, Kellar-Guenther Yvonne, McKasson Sarah, Singh Sikha, Ojodu Jelili
Association of Public Health Laboratories, Silver Spring, MD 20910, USA;
Center for Public Health Innovation, Littleton, CO 80120, USA;
Int J Neonatal Screen. 2020 Jun 11;6(2):48. doi: 10.3390/ijns6020048. eCollection 2020 Jun.
Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS' Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.
美国的公共卫生项目每年对超过400万婴儿进行至少30种遗传疾病的筛查。美国卫生与公众服务部（HHS）新生儿及儿童遗传性疾病咨询委员会（ACHDNC）为各州新生儿筛查（NBS）项目推荐需筛查的疾病。2015年3月，ACHDNC更新了推荐统一筛查 panel（RUSP），将庞贝病纳入其中。为支持扩大庞贝病的筛查，公共卫生实验室协会（APHL）提出了由HHS的卫生资源与服务管理局（HRSA）母婴健康局（MCHB）资助的新生儿筛查技术援助与评估项目（NewSTEPs）新疾病实施项目。通过该项目，APHL向15个州的NBS项目提供了资金支持，以全面实施庞贝病筛查。截至2020年4月27日，15个项目中有9个已全面实施庞贝病新生儿筛查，6个项目目前正在推进实施。本文将讨论各州如何推进庞贝病筛查的全州实施、实施该疾病筛查所面临的挑战、项目期间吸取的经验教训以及实施庞贝病筛查的建议。
