학술논문
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
Document Type
Original Paper
Author
Wells, Constance F.; Boursier, Guilaine; Yauy, Kevin; Ruiz-Pallares, Nathalie; Mechin, Déborah; Ruault, Valentin; Tharreau, Mylène; Blanchet, Patricia; Pinson, Lucile; Coubes, Christine; Fila, Marc; Baleine, Julien; Pidoux, Odile; Badr, Maliha; Milesi, Christophe; Cambonie, Gilles; Mesnage, Renaud; Dereure, Maëlle; Ardouin, Olivier; Guignard, Thomas; Geneviève, David; Barat-Houari, Mouna; Willems, Marjolaine
Source
European Journal of Human Genetics. 30(9):1076-1082
Subject
Language
English
ISSN
1018-4813
1476-5438
1476-5438
Abstract
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.