Article (Scientific journals)
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Lumaka Zola, Aimé; Fasquelle, Corinne; Debray, François-Guillaume et al.
2023In International Journal of Molecular Sciences, 24 (4), p. 4003
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Keywords :
Base Space Sequence Hub; Dragen; NICU; NICU-Seq; critically ill newborn; rWGS; rapid whole genome sequencing; Inorganic Chemistry; Organic Chemistry; Physical and Theoretical Chemistry; Computer Science Applications; Spectroscopy; Molecular Biology; General Medicine; Catalysis
Abstract :
[en] Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twenty-one unrelated critically ill patients were recruited from the neonatal intensive care units, the pediatric intensive care unit, and the neuropediatric unit, and offered rWGS as a first tier test. Libraries were prepared in the laboratory of human genetics of the University of Liège using Illumina DNA PCR-free protocol. Sequencing was performed on a NovaSeq 6000 in trio for 19 and in duo for two probands. The TAT was calculated from the sample reception to the validation of results. Clinical utility data were provided by treating physicians. A definite diagnosis was reached in twelve (57.5%) patients in 39.80 h on average (range: 37.05-43.7). An unsuspected diagnosis was identified in seven patients. rWGS guided care adjustments in diagnosed patients, including a gene therapy, an off-label drug trial and two condition-specific treatments. We successfully implemented the fastest rWGS platform in Europe and obtained one of the highest rWGS yields. This study establishes the path for a nationwide semi-centered rWGS network in Belgium.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Author, co-author :
Lumaka Zola, Aimé  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Fasquelle, Corinne ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Debray, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Alkan, Serpil ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Jacquinet, Adeline ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Harvengt, Julie  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Boemer, François  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Mulder, André;  Department of Pediatrics, Division of Pediatric Critical Care Medicine, CHC Mont-Légia, 4000 Liège, Belgium
VAESSEN, Sandrine ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Viellevoye, Renaud ;  Centre Hospitalier Universitaire de Liège - CHU > > Service néonatologie (CHR)
Gonon Rodrigues Palmeira, Leonor ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
CHARLOTEAUX, Benoit ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Brysse, Anne  ;  Centre Hospitalier Universitaire de Liège - CHU > > Secteur commun assurance qualité
BULK, Saskia ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Rigo, Vincent  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service néonatologie (CHR)
Bours, Vincent ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
More authors (6 more) Less
Language :
English
Title :
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Publication date :
16 February 2023
Journal title :
International Journal of Molecular Sciences
ISSN :
1661-6596
eISSN :
1422-0067
Publisher :
MDPI AG, Switzerland
Volume :
24
Issue :
4
Pages :
4003
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
Wallonia [BE]
Available on ORBi :
since 28 March 2023

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