An Pediatr (Engl Ed). 2025 Nov 6:503956. doi: 10.1016/j.anpede.2025.503956. Online ahead of print.
ABSTRACT
Rapid genome sequencing has been found to be an effective tool for the diagnosis of genetic disorders in neonatal and pediatric intensive care settings, allowing rapid and accurate decision-making and access to personalized care and therapies. Most genetic disorders exhibit significant clinical and genetic heterogeneity, which complicates recognition of the disease and diagnosis by conventional methods. Rapid genome sequencing offers a superior diagnostic yield, improving patient management and reducing diagnostic delay and inpatient care costs. However, there are barriers to its implementation in everyday clinical practice, such as a lack of technological infrastructure and qualified professionals. This study, conducted in a Spanish center, demonstrated the viability of genomic medicine in real-world practice, with a diagnostic yield of 42% and a significant impact on the management of patients in 32.5% of cases.
PMID:41203500 | DOI:10.1016/j.anpede.2025.503956
