Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

Rapid whole-genome sequencing (rWGS) as first-line test — clinical implementation program

A clinical program implementing rapid whole-genome sequencing (rWGS) as a first-line diagnostic test for children in pediatric and cardiac intensive care units is described. Early genomic diagnosis in critical care settings enables timely therapeutic decisions, avoids redundant diagnostic workups, and provides a molecular diagnosis for rare genetic diseases in acute contexts.

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Implementing rWGS as first-line testing in pediatric intensive care is an accelerating trend in tertiary centers. This study documents a single-center academic experience whose data will contribute to the health-economic arguments needed for broader adoption. Diagnostic yield in PICU/CICU settings generally ranges from 30–50% across published series.

Clinical impact : 3/3 · Evidence strength : 2/3 · Novelty : 1/2 · Sample size : 1/1 · Journal quality : 0/1 → Total : 7/10