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.
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We thank all the families for their involvement in the study. We also thank Dr Marie Christine Picot for her help in the methodology and Dr Florence Masson, Dr Floriane Hemery, Dr Odile Plan for their involvement in patient care.
Funding for this study was obtained thanks to internal research credits of the university hospital of Montpellier (“Appel d’offre interne jeune chercheur”).
The authors declare no competing interests.
This study was accepted by the ethical committee of Montpellier university hospital (CNRIPH 18.07.17.33927). All parents signed a consent to participate to the study for themselves and their child.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Wells, C.F., Boursier, G., Yauy, K. et al. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01133-7