Implementation of "clinical sequencing" in cancer genome medicine in Japan

Abstract

In oncology, actionable mutations (alterations) in cancer-associated genes are critical in terms of the selection of therapeutic approaches. Next-generation sequencing of tumor sample DNA (ie, clinical sequencing) can guide clinical management by providing diagnostic or prognostic data, and facilitating the identification of potential treatment regimens, such as molecular-targeted and immune checkpoint blockade therapies. In the USA, a variety of tumor-profiling multiplex gene panels have been developed and implemented for this purpose. In Japan, several academic institutions have now carried out detailed investigations of the feasibility and value of clinical sequencing, and cancer societies have issued consensus clinical practice guidance for next-generation sequencing-based gene panel tests. These efforts will facilitate the implementation of cancer genome medicine in Japan.

Keywords: actionable mutation; cancer genome medicine; clinical sequencing; implementation; insurance reimbursement.

Figure 1

Discovery of RET fusion and its translation to clinical oncology. RET fusion was discovered in 2012.4 Nationwide screening for RET and ROS1 fusions within the context of LC‐SCRUM‐Japan commenced in 2013.6 LURET, an open‐label, multicenter, phase II trial of vandetanib for RET fusion‐positive lung cancer, also commenced in 2013. The LURET results were published in 2017.3 TKI, tyrosine kinase inhibitor

Figure 2

Differences in laboratory test regulations in the USA and Japan. In the USA, Clinical Laboratory Improvement Amendments (CLIA)‐certified laboratories can deploy laboratory developed tests that have not been submitted for FDA approval. In Japan, every test must be approved by the Pharmaceuticals and Medical Devices Agency (PMDA) and the Ministry of Health, Labor, and Welfare (MHLW) prior to application in clinical settings. NGS, next‐generation sequencing