Rapid Genomic Testing: A Study of Institutional Utilization and Outcomes

This retrospective analysis covers 270 rapid genomic testing orders reviewed between 2020 and 2024 at a single institution. Ninety-eight percent of orders were placed for inpatients and 79% were rapid genome sequencing. Use of the test increased more than tenfold over the period while diagnostic yield declined, reaching 20% (54/270) across the cohort. Only 10% of inpatient cases (27/265) were both diagnostic and resulted while the individual was still hospitalized. Mean laboratory turnaround time fell from 12.5 days over 2020-2023 to 8.6 days in 2024 (p < 0.0001).

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

The uncomfortable figure is not the 20% yield but the fact that only one inpatient case in ten had a diagnostic result available during admission: in an indication whose entire rationale is real-time decision-making, that is the true utility metric. Falling yield as ordering multiplies is the classic signature of broadening indications, and argues for structured ordering criteria rather than restricted access. The data come from a single centre, which limits generalization, but the order of magnitude is worth setting against the yields reported in selected series.

Analysis by Dr Thibaut Benquey