Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

ABSTRACT: Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation and unknown prognosis, and the genetic causes are very heterogeneous. In a French hospital network, we assessed the feasibility of performing accelerated trio-genome sequencing (GS) with limited additional costs by integrating urgent requests into the routine workflow. In addition to evaluating our capacity for such an approach, this prospective multicentre pilot study was designed to identify pitfalls encountered during its implementation. Over 14 months, we included newborns and infants hospitalized in neonatal or paediatric intensive care units with probable genetic disease and in urgent need for etiological diagnosis to guide medi

SUBMITTER: Denomme-Pichon AS 

PROVIDER: S-EPMC9091203 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature