Screening programs for asymptomatic newborns (newborn screening - NBS) have increasingly been implemented in many westernized countries since the end of the 20th century (Wilson et al., 2010). The major goal of these programs is to unselectively screen all newborns for a well defined group of severe, rare, clearly identifiable and actionable conditions. These conditions should be diagnosed and treated in a timely fashion to ensure short and long term health of the newborn as an infant and an adult. As such, NBS programs are one of the pivotal public health achievements of the past decade (Centers for Disease Control and Prevention, 2011) that have led to the saving of lives and improving quality of life as well as posing less financial burden on the health care system. Technically the currently practiced screening process is performed 48 hours after birth, using a minute amount of blood collected on a dried blood spot card, which is subsequently subjected to biochemical analysis predominantly using mass spectrometry assays.

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用于新生儿筛查的下一代测序：我们到了吗？

自20世纪末以来，在许多西方国家，越来越多地实施了无症状新生儿的筛查计划（新生儿筛查-NBS）（Wilson等，2010）。这些程序的主要目标是无选择地筛选所有新生儿，以明确定义一组严重的，罕见的，可明确识别的和可行的疾病。这些疾病应及时诊断和治疗，以确保新生儿作为婴儿和成人的短期和长期健康。因此，国家统计局计划是过去十年中关键的公共卫生成就之一（疾病控制与预防中心，2011年），这些成就导致了生命的挽救和生活质量的改善，并减轻了健康负担护理系统。