NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN).

新生儿筛查(NBS)计划目前每年筛查400多万名美国婴儿 年。新生儿筛查的目的是检测潜在的致命或致残情况 新生儿，从而为早期治疗提供了机会之窗，通常是在儿童处于 仍然没有症状。这一公共卫生计划通过 早期干预有先天性疾病风险的婴儿的识别 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学院(ACMG)领导了这项研究 建议对所有新生儿进行29岁筛查的新生儿筛查指南 “核心条件”和在核心评价期间确定的25个“次要条件” 据报道。这些建议已获卫生署接纳，并 人类服务部(HHS)新生儿遗传性疾病秘书咨询委员会 和儿童(ACHDNC)(最初由2000年《儿童健康法》授权)，以及 卫生与公众服务部部长。 现在有34个核心条件和26个次要条件构成了建议 统一筛选小组(RUSP)。大多数州现在对新生儿使用这种或非常类似的面板 放映。这些筛查指南已被州政府广泛接受 筛选实验室，以及对增加经过适当审查的新测试的兴趣 添加到推荐的面板。此外，根据《新生儿筛查拯救生命法案》， 2007年，并根据2014年新生儿筛查拯救生命重新授权法案得到重申， 尤尼斯·肯尼迪·施莱弗中心的亨特·凯利新生儿筛查研究项目 国家儿童健康和人类发展研究所(NICHD)，国家儿童健康和人类发展研究所的一部分 卫生研究院(NIH)，被授权开展、协调和扩大在 新生儿筛查。这与NICHD的使命是一致的，即确保 每个人出生时都是健康的，都是被需要的，女性不会因此而受到有害的影响 生殖过程，所有儿童都有机会充分发挥他们的潜力 为了健康和富有成效的生活。 具体地说，NICHD内的智力和发育障碍处有 作为其研究重点之一，以改进对IDD疾病的筛查和早期诊断 并为他们制定早期干预和治疗方法。因此，亨特·凯利的新生儿 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，以及 筛查试验，疾病的自然病史，以及有效性、安全性和 可用于治疗这种疾病的有效方法。 到目前为止，已经发现了数千种罕见的疾病，数百种 可能会从新生儿筛查中受益；然而，在这一领域的研究，许多 这些疾病中有许多是罕见疾病，各州有不同的规章制度 新生儿筛查一直是调查人员面临的挑战。

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.