Wojcik Monica H, Gold Nina B
Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.
Int J Neonatal Screen. 2023 Feb 28;9(1):12. doi: 10.3390/ijns9010012.
Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS). Genomic sequencing may complement current NBS laboratory analyses or may be used as a first-tier screening tool to identify disorders not detected by current approaches. As a large proportion of infant deaths occur in children with an underlying genetic disorder, earlier diagnosis of these disorders may improve neonatal and infant mortality rates. This lends an additional layer of ethical consideration regarding genomic newborn screening. We review the current understanding of genomic contributions to infant mortality and explore the potential implications of expanded access to genomic screening for infant mortality rates.
基因组测序技术的进步和成本的降低为将基因组学更多地纳入新生儿筛查（NBS）铺平了道路。基因组测序可以补充当前的NBS实验室分析，或者可以用作一线筛查工具，以识别当前方法未检测到的疾病。由于很大一部分婴儿死亡发生在患有潜在遗传疾病的儿童中，这些疾病的早期诊断可能会提高新生儿和婴儿死亡率。这为基因组新生儿筛查带来了额外的伦理考量。我们回顾了目前对基因组学对婴儿死亡率影响的理解，并探讨了扩大基因组筛查对婴儿死亡率的潜在影响。
