Molecular Diagnostic Yield of Exome Sequencing and Genome Sequencing in Critically Ill Neonates and Infants: A Systematic Review and Meta-Analysis

Meta-analysis of 26 WES and 22 WGS studies (>4,000 patients) on molecular diagnostic yield of exome and genome sequencing in neonatal critical care

A meta-analysis of 48 studies (26 WES + 22 WGS) involving more than 4,000 critically ill neonates and infants evaluates the molecular diagnostic yield of exome and genome sequencing. The overall yield is approximately 39%, with a favorable trend for WGS over WES in the most severe subgroups. These data provide the most robust estimates to date for justifying rapid sequencing integration in neonatal critical care.

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A ~39% yield in neonatal critical care is one of the strongest pieces of evidence for implementing rapid WGS in these units. This meta-analysis is timely to inform discussions on rapid WGS reimbursement and organization in France, particularly within the framework of Plan Maladies Rares 4.