Ruiz-Schultz Nicole, Asay Bryce, Rohrwasser Andreas
Utah Public Health Laboratory, Salt Lake City, UT 84129, USA.
Int J Neonatal Screen. 2021 Sep 30;7(4):63. doi: 10.3390/ijns7040063.
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In this commentary, we discuss how next-generation sequencing (NGS) methods can be used as a secondary testing method in NBS. Additionally, we elaborate on the importance of genomic variant repositories for the annotation and interpretation of variants. Barriers to the incorporation of NGS and bioinformatics within NBS are discussed, and ideas for a regional bioinformatics model and shared variant repository are presented as potential solutions.
扩大新生儿疾病检测项目需要纳入新的检测方法。对于在初筛方法中缺乏用于检测的可靠生物标志物的疾病以及需要基因分型或测序作为二线和/或诊断检测的疾病而言，情况尤其如此。在本评论中，我们讨论了如何将下一代测序（NGS）方法用作新生儿筛查（NBS）中的二线检测方法。此外，我们阐述了基因组变异储存库对于变异注释和解释的重要性。讨论了在新生儿筛查中纳入NGS和生物信息学的障碍，并提出了区域生物信息学模型和共享变异储存库的构想作为潜在解决方案。
