NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN).

新生儿筛查(NBS)计划目前每年对400多万名美国婴儿进行筛查。新生儿筛查的目的是检测新生儿的潜在致命或致残情况，从而为早期治疗提供机会之窗，通常是在儿童仍无症状的情况下。这一公共卫生方案通过识别有先天性疾病风险的婴儿挽救了无数人的生命，早期干预和治疗有可能降低发病率和死亡率。 2006年，美国医学遗传学和基因组学会(ACMG)牵头制定了新生儿筛查指南，建议对所有新生儿进行29种“核心疾病”的筛查，并报告在核心评估中发现的25种“次要疾病”。卫生与公众服务部(HHS)新生儿和儿童遗传性疾病问题秘书咨询委员会(ACHDNC)(最初由2000年《儿童健康法》授权)和卫生与公众服务部秘书接受了这些建议。 现在有34个核心条件和26个次要条件组成了建议的统一筛选小组(RUSP)。大多数州现在使用这种或非常类似的面板进行新生儿筛查。这些筛查指南已被州筛查实验室广泛接受，并有兴趣增加新的测试，这些测试已被适当审查的推荐小组。此外，根据2007年《新生儿筛查挽救生命法》，并在2014年《新生儿筛查挽救生命再授权法》中得到重申，尤尼斯·肯尼迪·施莱弗国家儿童健康和人类发展研究所(NICHD)内的亨特·凯利新生儿筛查研究方案(NICHD)--国家卫生研究院(NIH)的一部分--被授权开展、协调和扩大新生儿筛查研究。这与NICHD的使命是一致的，即确保每个人出生时都是健康和受欢迎的，妇女不受生殖过程的有害影响，所有儿童都有机会充分发挥其健康和富有成效的生活潜力。 具体地说，NICHD的智力和发育障碍处的研究重点之一是改进对IDD疾病的筛查和早期诊断，并为其制定早期干预和治疗。因此，亨特·凯利新生儿筛查研究计划属于NICHD/NIH内的IDD分支机构的职权范围。 目前，与新生儿筛查相关的政策是通过分析所考虑的每种情况的严重性和发病率、筛查测试的特异性和敏感性、疾病的自然病史以及可用于疾病的治疗的有效性、安全性和有效性来确定的。 到目前为止，已发现数千种罕见疾病，数百种可能从新生儿筛查中受益；然而，这一领域的研究一直对调查人员构成挑战，因为许多疾病都是罕见疾病，而且各州有不同的与新生儿筛查相关的规章制度。

Newborn screening (NBS) programs currently screen more than 4 million U.S. infants per year. The intent of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. This public health program has saved countless lives through the identification of infants who are at risk for congenital disorders for which early interventions and treatments have the potential to reduce morbidity and mortality. In 2006 the American College of Medical Genetics and Genomics (ACMG) led the development of newborn screening guidelines that recommend that all newborn infants be screened for 29 "core conditions" and that 25 “secondary conditions” identified during the core evaluations be reported. These recommendations have been accepted by the Department of Health and Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (originally authorized by the Children's Health Act of 2000), and the Secretary of HHS. There are now 34 core conditions and 26 secondary conditions that form the Recommended Uniform Screening Panel (RUSP). Most states now use this or very similar panels for newborn screening. There has been broad acceptance of these screening guidelines by state screening laboratories, and interest in adding new tests that have been appropriately vetted to the recommended panel. In addition, under the Newborn Screening Saves Lives Act of 2007 and reaffirmed under the Newborn Screening Saves Lives Reauthorization Act of 2014, the Hunter Kelly Newborn Screening Research Program within the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), is authorized to carry out, coordinate, and expand research in newborn screening. This is in keeping with the mission of NICHD, which is to ensure that every person is born healthy and wanted, that women suffer no harmful effects from reproductive processes, and that all children have the chance to achieve their full potential for healthy and productive lives. Specifically, the Intellectual and Developmental Disabilities (IDD) Branch within NICHD has as one of its research priorities to improve screening and early diagnosis for IDD conditions and develop early interventions and treatments for them. Hence, the Hunter Kelly Newborn Screening Research Program falls under the purview of the IDD Branch within NICHD/NIH. Currently, policies related to newborn screening are determined through analysis of the severity and incidence of each condition under consideration, the specificity and sensitivity of the screening test, the natural history of the disorder, and the efficacy, safety, and effectiveness of treatments available for the disorder. To date, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening; however, research in this arena, where many of the disorders are rare diseases and states have varying rules and regulations related to newborn screening, has been challenging for investigators.