Whole Genome Sequencing as a First-Line Clinical Test: Almost Ready for Prime Time

Affiliations

Editorial

Mary K Dahmer. Crit Care Med. 2021.

. 2021 Oct 1;49(10):1815-1817.

doi: 10.1097/CCM.0000000000005077.

¹ Division of Critical Care Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI.

No abstract available

Conflict of interest statement

Dr. Dahmer has disclosed that she does not have any potential conflicts of interest.

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Wu B, Kang W, Wang Y, Zhuang D, Chen L, Li L, Su Y, Pan X, Wei Q, Tang Z, Li Y, Gao J, Cheng R, Zhou W, Wang Z, Qiu G, Wang J, Yang L, Zhang P, Zhao X, Wang Y, Gan M, Li G, Liu R, Ni Q, Xiao F, Yan K, Cao Y, Lu G, Lu Y, Wang H, Zhou W. Wu B, et al. Crit Care Med. 2021 Oct 1;49(10):1674-1683. doi: 10.1097/CCM.0000000000005052. Crit Care Med. 2021. PMID: 33935161

1. Willig LK, Petrikin JE, Smith LD, et al.: Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015; 3:377–387
1. French CE, Delon I, Dolling H, et al.; NIHR BioResource—Rare Disease; Next Generation Children Project: Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med. 2019; 45:627–636
1. Sanford EF, Clark MM, Farnaes L, et al.; RCIGM Investigators: Rapid whole genome sequencing has clinical utility in children in the PICU. Pediatr Crit Care Med. 2019; 20:1007–1020
1. Wu B, Kang W, Wang Y, et al.: Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project. Crit Care Med. 2021; 49:1684–1693
1. Aziz N, Zhao Q, Bry L, et al.: College of American Pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med. 2015; 139:481–493