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

Simple Summary Next-generation sequencing (NGS)-based assay is widely used in clinical practice due to its reimbursement by Japan's universal health-care system for cancer patients who finished standard treatment in June 2019. To clarify the clinical utility of the NGS assay under the universal health-care system, we retrospectively analyzed patients who underwent NGS assay at our hospital. Since reimbursement of the NGS assay is restricted to patients who complete standard treatment, many patients experience clinical disease progression before receiving results; therefore, they could not use the NGS results for making a therapeutic decision. Broader reimbursement of NGS assays for advanced cancer patients is needed for making optimum use of the NGS assay results. Providing good access to clinical trials and off-label agents is necessary for enabling patients to benefit from NGS assay. Additionally, this study revealed that the disclosure of presumed germline findings is feasible in clinical practice. 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 receive 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 counselor. The NGS assay should be performed earlier in the clinical course to maximize the clinical benefit. 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. Additionally, the disclosure of presumed germline findings is feasible in clinical practice.