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Early use of rapid sequencing markedly cut diagnostic delays and revealed more genetic conditions in children outside intensive care.

Researchers conducted a retrospective study published in June 2025 issue of Journal of Pediatrics to examine the effects of policy implementation permitting rapid exome and genome sequencing as first-tier tests on diagnostic yield and time to definitive genetic diagnosis in children seen in non-critical care settings.  

They reviewed 218 children admitted to the general pediatric ward who received genetics consultation between January 1, 2021, and June 30, 2024. The analysis compared individuals seen before [consult prior to May 6, 2022] and after [consult after May 6, 2022] the implementation of rapid exome sequencing (rES) and rapid genome sequencing (rGS) as first-tier diagnostic tests.  

The results showed that among general pediatric ward inpatients who underwent first-tier rES or rGS, 42.3% [55/130] received a precise genetic diagnosis. Following policy implementation, the proportion of rES/rGS tests ordered rose from 14.5% [8/55] to 79.8%[130/163]. The average time to achieve a precise genetic diagnosis decreased from 289 days [median: 175 days; range: 16–838 days] before implementation to 13 days [median: 10 days; range: 4–59 days] afterward.  

Investigators concluded that implementing rapid exome and genome sequencing as a first-tier test in non-critical pediatric hospital settings significantly enhanced diagnostic access, reduced time to diagnosis, and supported improved clinical outcomes. 

Source: jpeds.com/article/S0022-3476(25)00240-9/fulltext