Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis.

Rapid whole-genome sequencing (rWGS) workflow with streamlined bioinformatics, used as a first-line test to return clinical genomic findings within days.

In England, WGS is offered to children with suspected cancer, but results are returned after several weeks whereas clinical decisions are often needed within days. This study evaluates a rapid WGS (rWGS) research workflow with streamlined bioinformatics in 54 children with suspected or confirmed malignancy (NCT07201038). Mean end-to-end turnaround time fell from 42 to 3 days. rWGS detected 147 of the 155 clinically actionable variants identified in the cohort (95%), versus 138 (89%) for standard-of-care testing. In a subset of 35 patients assessed prospectively, clinicians reported a benefit in 17 (49%): faster access to targeted therapy and risk stratification, or avoidance of unnecessary investigations and treatment escalation.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Going from 42 to 3 days finally aligns the genomic result with the timing of treatment decisions in paediatric oncology, which is the real test of utility. The benefit in 49% of patients relies on clinicians' self-reported judgement without a control group, and 54 children is still a feasibility-scale cohort. The abstract does not separate germline from somatic variants among the 155 actionable ones, which would matter to the geneticist.

Analysis by Dr Thibaut Benquey