Rapid whole-genome sequencing cut pediatric cancer turnaround to 3 days

A rapid whole-genome sequencing workflow reduced mean diagnostic turnaround from 42 days to 3 days, according to a paper in Nature Communications. The study evaluated 54 children in England with suspected or confirmed malignancy. Rapid sequencing detected 147 of 155 clinically actionable variants, compared with 138 detected through standard-of-care testing. In a prospective subset of 35 patients, clinicians reported that the workflow enabled faster access to targeted therapy or avoided unnecessary investigations and treatment escalation in 17 children.
Rapid sequencing may help children with suspected cancer receive targeted therapy sooner while avoiding unnecessary investigations and treatment escalation.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].