Newborn screening (NBS) is more than 50 years old and has proven to be a powerful and successful public health system. NBS must be regarded as a system and not simply as a test. We need to work as a community to improve the culture of safety for the NBS system and thereby to reduce the risk of babies being missed by the NBS system. Adding new technologies will not prevent system failures; that will require adherence to the culture of safety. Some have argued that every newborn should have their genome sequenced at birth and this sequencing could be part of NBS. However, NBS has depended on biomarker phenotypes throughout its history and our understanding of the relationships between genotype and phenotype is imperfect. Therefore, we should avoid being seduced by genomic sequencing technology and continue to focus on phenotypic biomarkers in NBS.

新生儿筛查 (NBS) 已有 50 多年的历史，已被证明是一个强大且成功的公共卫生系统。NBS 必须被视为一个系统，而不仅仅是一个测试。我们需要作为一个社区来改善 NBS 系统的安全文化，从而降低 NBS 系统遗漏婴儿的风险。添加新技术不会防止系统故障；这将需要坚持安全文化。一些人认为，每个新生儿都应该在出生时对其基因组进行测序，这种测序可能是 NBS 的一部分。然而，NBS 在其历史上一直依赖于生物标志物表型，我们对基因型和表型之间关系的理解并不完善。因此，我们应该避免被基因组测序技术所诱惑，继续关注NBS中的表型生物标志物。