Clinical utility of next‐generation sequencing‐based panel testing under the universal health‐care system in japan: A retrospective analysis at a single university hospital

Abstract

Next‐generation sequencing (NGS) assay is part of routine care in Japan owing to its reimbursement by Japan’s universal health‐care system; however, reimbursement is limited to patients who finished standard treatment. We retrospectively investigated 221 patients who underwent Foundation One CDX (F1CDx) at our hospital. Every F1CDx result was assessed at the molecular tumor board (MTB) for treatment recommendation. Based on patients’ preferences, presumed germline findings were also assessed at the MTB and disclosed at the clinic. In total, 204 patients underwent F1CDx and 195 patients completed the analysis; however, 13.8% of them could not re-ceive the report due to disease progression. Among 168 patients who received the results, 41.6% had at least one actionable alteration, and 3.6% received genomically matched treatment. Presumed germline findings were nominated in 24 patients, and 16.7% of them contacted a geneticist counse-lor. The NGS assay should be performed earlier in the clinical course to maximize the clinical ben-efit. Broader reimbursement for the NGS assay would enhance the delivery of precision oncology to patients. Access to clinical trials affects the number of patients who benefit from NGS. Addition-ally, the disclosure of presumed germline findings is feasible in clinical practice.