Response to Grosse et al.

To the Editor: We thank Dr. Grosse and colleagues for two corrections to the introduction of our recent description of a genome-sequencing system for universal newborn screening (NBS), diagnosis, and precision medicine for severe childhood genetic diseases that currently have effective therapeutic interventions. 1 Kingsmore S.F. Smith L.D. Kunard C.M. Bainbridge M. Batalov S. Benson W. Blincow E. Caylor S. Chambers C. Del Angel G. et al. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am. J. Hum. Genet. 2022; 109: 1605-1619 Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Firstly, that between 2006 and 2022, the number of core disorders recommended for NBS of dried blood spots (DBSs) in the United States—the Recommended Uniform Screening Panel (RUSP)—increased by six and not eight, as we had stated. Secondly, that between 2006 and 2018 the estimated number of infants with RUSP core conditions detected in the US by NBS of DBS increased by 207 per annum and not by 27, as we had stated. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesKingsmore et al.The American Journal of Human GeneticsAugust 24, 2022In BriefBecause highly successful NBS has not kept pace with genome or therapeutic innovation, we adapted rWGS for comprehensive NBS. NBS-rWGS for 388 disorders had 99.7% specificity, 88.8% sensitivity, and could have avoided symptoms completely in seven of 2,208 critically ill infants, mostly in 21, and partially in 13. Full-Text PDF Open AccessProgress in expanding newborn screening in the United StatesGrosse et al.The American Journal of Human GeneticsJune 01, 2023In BriefTo the Editor: We read with interest the recent article by Kingsmore et al., who suggest that universal newborn rapid whole-genome sequencing is attractive for “comprehensive” newborn screening (NBS).1 Existing US NBS programs are based on mandated routine testing of newborns; evidence-based decision-making processes exist for this testing.2 Whether policy makers also consider routine rapid whole-genome sequencing of newborns to be warranted may depend on the resolution of a number of evidentiary, ethical, legal, social, and economic issues. Full-Text PDF