Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center.

rWGS/rWES as first-line diagnostic tool in neonatal and pediatric intensive care

95 hospitalized patients (74.7% < 12 months) underwent rapid exome or genome sequencing between 2016 and 2023. Overall diagnostic yield was 29.5%, with turnaround time decreasing from 13.2 days (2021) to 8.1 days (2023) for rapid exome. Sequencing led to medical management changes in most diagnosed patients and anticipatory guidance updates in others.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This 8-year retrospective cohort documents the operational maturity of rWES/rWGS in tertiary settings and the trend toward reduced turnaround times. The 29.5% yield is consistent with the literature for a mixed neonatal/pediatric population — a solid argument for teams seeking to justify routine implementation.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 6/10