Chan Kee, Petros Michael
University of Illinois, Chicago, IL, USA.
Glob Pediatr Health. 2019 Dec 20;6:2333794X19894812. doi: 10.1177/2333794X19894812. eCollection 2019.
Newborn screening (NBS) is a public health service provided for all babies born in the United States and in most countries of the developed world. A series of tests are applied to the blood taken from newborn babies to detect genetic and metabolic disorders that can be treated if identified early. With early treatment and therapy, the affected babies can usually live a normal, healthy life. Timing for sampling, testing, and reporting is vital for NBS to function as an effective system. In order to be an effective system, the evolution of science, technology, and policy gradually had to come into a synchronous partnership, where the discovery of new genetic disorders led to timely development of technology for screening, which is supported by policy and implemented into practice. The timely "dance" of these partnerships in an era of personalized health and medicine forms the integrated approach supporting NBS. This review will include a brief history of scientific development, policymaking, and the economic consideration in the expansion of the NBS.
新生儿筛查(NBS)是一项为在美国及大多数发达国家出生的所有婴儿提供的公共卫生服务。一系列检测被应用于从新生儿采集的血液中,以检测那些如果能早期识别就可得到治疗的遗传和代谢紊乱疾病。通过早期治疗和干预,受影响的婴儿通常能够过上正常、健康的生活。采样、检测和报告的时机对于新生儿筛查作为一个有效系统发挥作用至关重要。为了成为一个有效的系统,科学、技术和政策的发展逐渐必须形成一种同步协作关系,即新遗传疾病的发现促使筛查技术得到及时开发,而这又得到政策支持并付诸实践。在个性化健康与医学时代,这些协作关系的适时“共舞”构成了支持新生儿筛查的综合方法。本综述将包括新生儿筛查扩展过程中科学发展、政策制定及经济考量的简要历史。