Progress in expanding newborn screening in the United States

To 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 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: 1605-1619https://doi.org/10.1016/j.ajhg.2022.08.003 Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Existing US NBS programs are based on mandated routine testing of newborns; evidence-based decision-making processes exist for this testing. 2 Kemper A.R. Green N.S. Calonge N. Lam W.K.K. Comeau A.M. Goldenberg A.J. Ojodu J. Prosser L.A. Tanksley S. Bocchini Jr., J.A. Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet. Med. 2014; 16: 183-187https://doi.org/10.1038/gim.2013.98 Abstract Full Text Full Text PDF PubMed Scopus (78) Google Scholar 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. 3 Bick D. Ahmed A. Deen D. Ferlini A. Garnier N. Kasperaviciute D. Leblond M. Pichini A. Rendon A. Satija A. et al. Newborn screening by genomic sequencing: opportunities and challenges. Int. J. Neonatal Screen. 2022; 840https://doi.org/10.3390/ijns8030040 Crossref Scopus (3) Google Scholar Kingsmore et al. suggest that sequencing can complement existing public-health NBS programs but acknowledge the challenge of reconciling universal or near-universal genomic screening with informed parental consent and the allowable secondary use of genomic information. 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: 1605-1619https://doi.org/10.1016/j.ajhg.2022.08.003 Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar Response to Grosse et al.Kingsmore et al.The American Journal of Human GeneticsJune 01, 2023In BriefTo 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 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. Full-Text PDF