NEWBORN SCREENING PILOT STUDIES - CORE FUNCTION ACTIVITIES

新生儿筛查的目的是发现新生儿潜在的致命或致残状况，从而为早期治疗提供机会，通常是在孩子还没有症状时。这种早期发现和治疗可以对受影响儿童病情的临床严重程度产生深远的影响。如果不及时诊断和治疗，目标疾病的后果可能是可怕的，许多会导致不可逆的神经损伤、智力、发育和身体残疾，甚至死亡。 2006年，美国医学遗传学学院（ACMG）制定了新生儿筛查指南，建议对所有新生儿进行29种“核心病症”筛查，并报告核心评估期间发现的25种次要病症。这些建议已被 HHS 秘书新生儿和儿童遗传性疾病咨询委员会 (ACHDNC)（经 2000 年《儿童健康法》授权）和 HHS 秘书接受。现在大多数州都使用此或非常类似的面板进行新生儿筛查。目前，已发现数千种罕见疾病，还有数百种可能受益于新生儿筛查。 然而，显而易见的是，在高通量新生儿筛查实验室中实施新技术的一个主要障碍是能否及时提供科学和后勤方面的可行性证据。考虑进行新生儿筛查的大多数疾病都是罕见疾病，在单个实验室的标准新生儿筛查中发现病例的可能性非常低。因此，为了成功开发和实施新的检测方法以及为推荐的统一筛查小组 (RUSP) 添加新条件，需要在多个州或新生儿筛查实验室之间开展合作。

The goal 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. Such early detection and treatment can have a profound impact on the clinical severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of the targeted disorders can be dire, many causing irreversible neurological damage, intellectual, developmental, and physical disabilities, and even death. In 2006, the American College of Medical Genetics (ACMG) developed 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 HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and by the Secretary of HHS. Most states now use this or very similar panels for newborn screening. Currently, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening. It has become evident, however, that a major impediment to implementing new technologies in high throughput newborn screening laboratories is the ability to provide evidence of the feasibility of the assay, both scientifically and logistically, in a timely manner. A majority of disorders considered for newborn screening are rare diseases where the likelihood of detecting cases during standard newborn screening in a single laboratory is very low. For this reason, collaborative efforts, implemented across multiple states or newborn screening laboratories, are necessary for the successful development and implementation of new assays and the addition of new conditions to the Recommended Uniform Screening Panel (RUSP).