Real-world clinical utility of tumor whole-genome sequencing diagnostics in solid cancers

Whole-genome sequencing (WGS) provides a tumor-agnostic solution for detecting an increasingly complex range of DNA-based biomarkers. A study at the Netherlands Cancer Institute (Amsterdam) evaluated integrating WGS in real-world care. The study included 888 patients with solid cancers. WGS succeeded in 89% of cases with a median turnaround time of 6 working days. Potentially actionable biomarkers were identified in 73% of patients, including biomarkers for reimbursed (27%) and experimental (63%) therapies; leading to 40% and 19% of patients, respectively, starting biomarker-informed treatment, which was associated with 31% longer median overall survival (+ 96 days) compared with patients not receiving such therapy. In cancers of unknown primary (n=123), WGS contributed to diagnostic solution or detected biomarker-driven reimbursed treatment options in 67%. Clincially relevant pathogenic germline variants were identified in 6.5% of patients. The authors conclude that WGS-based diagnostics had clinical consequences for 41% of tested patients.