Are We Ready for Newborn Genome Screening?

[摘要] Currently, newborn screening (NBS)2 occurs within the first 2 days of life and involves heel-stick blood spot collection. The disorders screened for vary between states; they must include 21 specific disorders but can encompass up to 50 others. Disorder screening inclusion criteria can be simplified into 2 main considerations: ( a ) the newborn should benefit from early detection, and ( b ) the benefit should be balanced by the financial cost and risk of harm. In many instances, additional confirmatory genetic testing is required for presumptive positives. For some conditions, targeted molecular testing is performed directly from DNA obtained from the newborn blood spot. Advances in next generation sequencing technology have prompted research to evaluate genome sequencing in the newborn population and to assess whether next generation sequencing could replace …

[学科分类] 过敏症与临床免疫学