American College of Medical Genetics and Genomics, Bethesda, MD, USA.
Departments of Pediatrics and Genetics, University of Minnesota, St. Paul, MN, USA.
Genet Med. 2019 Jun;21(6):1271-1279. doi: 10.1038/s41436-018-0334-8. Epub 2018 Nov 5.
In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.
在过去的 20 年中，开展了几项政策活动，这些活动塑造了今天的新生儿筛查（NBS）计划及其相关的 NBS 研究活动：新生儿筛查工作组报告；2000 年《儿童健康法》，筛查遗传性疾病；美国医学遗传学与基因组学学院（ACMG）的新生儿筛查统一小组；以及 ACMG 专家组，负责研究建立一个针对罕见遗传疾病的全国协作研究系统。这些活动有助于构想新生儿筛查转化研究网络（NBSTRN）的基础设施，并为其当前活动奠定基础。10 年后，NBSTRN 已发展成为一个为研究人员提供工具和资源的组织，这些资源与针对本地数据孤立的罕见疾病 NBS 计划相关。基础设施包括用于筛选测试的分析和临床验证的工具；收集、分析、共享和报告新生儿筛查个体的纵向实验室和临床数据；以及一个基于网络的工具，允许研究人员从州 NBS 计划中获取可用于研究的干血斑。NBSTRN 还为研究人员提供工具，例如知情同意模板、疾病登记处、州 NBS 概况以及关于规划试点研究的咨询。随着时间的推移，不断增长的数据本身将成为一种资源。
