Photo Credit: iStock.com\/simonkr<\/p>\n
Early use of rapid sequencing markedly cut diagnostic delays and revealed more genetic conditions in children outside intensive care.<\/p>\n
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.\u00a0\u00a0<\/p>\n
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.\u00a0\u00a0<\/p>\n
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\u2013838 days] before implementation to 13 days [median: 10 days; range: 4\u201359 days] afterward.\u00a0\u00a0<\/p>\n
Investigators concluded that implementing rapid exome and genome sequencing as a first-tier test in non-critical pediatric hospital<\/a> settings significantly enhanced diagnostic access, reduced time to diagnosis, and supported improved clinical outcomes.\u00a0<\/p>\n