Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
received:
04
04
2022
accepted:
09
06
2022
revised:
18
05
2022
pubmed:
22
6
2022
medline:
9
9
2022
entrez:
21
6
2022
Statut:
ppublish
Résumé
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition not diagnosed by rES. Eight individuals had their care impacted by their rES results, four were discharged or died before the results. This small-scale study shows that rES can be implemented in a regional University hospital with rapid impactful diagnosis to improve care in critically ill infants.
Identifiants
pubmed: 35729264
doi: 10.1038/s41431-022-01133-7
pii: 10.1038/s41431-022-01133-7
pmc: PMC9436918
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1076-1082Informations de copyright
© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.
Références
JAMA. 2020 Jun 23;323(24):2503-2511
pubmed: 32573669
Eur J Hum Genet. 2016 Aug;24(9):1262-7
pubmed: 26932191
J Mol Diagn. 2018 Jul;20(4):465-473
pubmed: 29689380
Lancet Respir Med. 2015 May;3(5):377-87
pubmed: 25937001
Sci Transl Med. 2012 Oct 3;4(154):154ra135
pubmed: 23035047
Intensive Care Med. 2019 May;45(5):627-636
pubmed: 30847515
Lancet Reg Health West Pac. 2020 Jul 24;1:100001
pubmed: 34327338
N Engl J Med. 2008 Feb 7;358(6):605-14
pubmed: 18256395
Am J Hum Genet. 2020 Nov 5;107(5):953-962
pubmed: 33157008
Am J Hum Genet. 2019 Oct 3;105(4):719-733
pubmed: 31564432
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genet Med. 2021 Aug;23(8):1391-1398
pubmed: 34012069
Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217
pubmed: 33264411
JAMA Pediatr. 2017 Dec 4;171(12):e173438
pubmed: 28973083
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238
pubmed: 34089648
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Eur J Hum Genet. 2022 Feb;30(2):142-149
pubmed: 34744166