Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"

Monica H Wojcik; Kristen P Fishler; Bimal P Chaudhari

doi:10.1007/s00439-022-02498-x

Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"

Hum Genet. 2023 Feb;142(2):161-164. doi: 10.1007/s00439-022-02498-x. Epub 2022 Nov 10.

Authors

Monica H Wojcik¹, Kristen P Fishler², Bimal P Chaudhari³

Affiliations

¹ Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
² Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
³ Divisions of Genetics and Genomic Medicine, Neonatology, Department of Pediatrics, The Ohio State College of Medicine and the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA. [email protected].

PMID: 36355221
DOI: 10.1007/s00439-022-02498-x

Abstract

Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.

Publication types

Letter

MeSH terms

Chromosome Mapping
Exome Sequencing
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Neonatology*