Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision-making
Critically ill paediatric patients often have a genetic disorder that requires rapid diagnosis for the best outcomes. Current clinical genetic testing takes several weeks, but critical care decisions must be made within days, meaning patients will not be on optimal treatment from the beginning of their care. Here, researchers investigated the potential clinical utility of Oxford Nanopore sequencing to provide DNA analysis in real time. This method provided results in an average of 5 days for 26 research samples from critically ill patients and revealed the causative variant for 42% of samples. This single-test approach shows huge potential for directly informing urgent care decisions and could lead to immediate treatment changes and improved patient outcomes in the future.
'Our findings underscore the clinical impact of ultrarapid [long-read genome sequencing (LR-GS)], including added value of methylation analysis, for critically ill patients and highlight existing challenges, paving the way to ultrarapid LR-GS integration into standard diagnostics'
Smits, Ferraro, Drost, Rots, and Verhoeven et al. European Journal of Human Genetics (2025)
Sample type: blood
