Clinical practice guidance for next‐generation sequencing in cancer diagnosis and treatment (Edition 1.0)

Abstract

In Japan, the social (medical) health‐care system is on the way to being developed to advance personalized medicine through the implementation of cancer genomic medicine, known as “cancer clinical sequencing,” which uses a next‐generation sequencer. However, no Japanese guidance for cancer genomic testing exists. Gene panel testing can be carried out to help determine patient treatment, confirm diagnosis, and evaluate prognostic predictions of patients with mainly solid cancers for whom no standard treatment is available. This guidance describes how to utilize gene panel testing according to the type of cancer: childhood cancer, rare cancer, carcinoma of unknown primary, and other cancers. The level of evidence classification for unified use in Japan is also detailed. This guidance establishes the basic principles of the quality control of specimens, requirements of medical institutions, informed consent, handling of data during the postanalysis stage, and treatment options based on the evidence level. In Japan, gene panel testing for cancer treatment and diagnosis is recommended to comply with this guidance. This is a collaborative work of the Japanese Society of Medical Oncology, Japan Society of Clinical Oncology, and the Japanese Cancer Association.

Feasibility and utility of a panel testing for 114 cancer‐associated genes in a clinical setting: A hospital‐based study

“…Evidence levels 1A‐3A in the Clinical Practice Guidelines for Next Generation Sequencing in Cancer Diagnosis and Treatment correspond to evidence levels A‐C in the guidelines published by the Association for Molecular Pathology, ACMG, American Society of Clinical Oncology, and College of American Pathologists . Therefore, the same percentage (ie, 59.4%) of cases was also judged as positive for aberrations based on evidence levels A‐C; ie, they had clinically significant gene aberrations.…”

“…Actionable gene aberrations for drug selection were those predicted to confer sensitivity/resistance to either an approved targeted agent or an experimental targeted agent currently in clinical trials. Evidence levels were added to each gene aberration according to Clinical Practice Guidance for Next Generation Sequencing in Cancer Diagnosis and Treatment (issued by the Japanese Society of Medical Oncology, Japan Society of Clinical Oncology, and the Japanese Cancer Association) . The guidance cites the following levels of evidence for each gene aberration: level 1A, a Pharmaceuticals and Medical Devices Agency (PMDA)‐approved biomarker for the tumor type; 1B, an FDA‐approved biomarker for the tumor type (not approved by the PMDA) or a biomarker verified by a prospective molecularly driven clinical trial; 2A, a biomarker identified by subgroup analysis in a prospective clinical trial; 2B, an approved biomarker for a different tumor type or a biomarker with evidence supporting its clinical utility; 3A, a biomarker with evidence of proof‐of‐concept in at least one case report; 3B, a biomarker with evidence obtained from in vitro/in vivo experiments; and 4, other gene mutations in cancer.…”

“…Gene panel tests have not yet been implemented in routine oncological practice in Japan; ie, they have not been reimbursed by the national insurance system run by the Japanese Ministry of Health, Labor, and Welfare (MHLW) . However, several academic institutions have examined the feasibility and utility of gene panel tests, and 3 major Japanese cancer‐related societies (the Japanese Society of Medical Oncology, the Japanese Society of Clinical Oncology, and the Japanese Cancer Association) have issued consensus clinical practice guidance for NGS‐based cancer tests (the Consensus Clinical Practice Guidelines for Next Generation Sequencing in Cancer Diagnosis and Treatment [Edition 1.0]; http://www.jsmo.or.jp/about/kanko.html#guideline) . Therefore, it is likely that implementation of gene panel tests in Japan will happen soon.…”

“…ing to Clinical Practice Guidance for Next Generation Sequencing in Cancer Diagnosis and Treatment (issued by the Japanese Society of Medical Oncology, Japan Society of Clinical Oncology, and the Japanese Cancer Association) 9. The guidance cites the following levels of evidence for each gene aberration: level 1A, a Pharmaceuticals and Medical Devices Agency (PMDA)-approved biomarker for the tumor type; 1B, an FDA-approved biomarker for the tumor type (not approved by the PMDA) or a biomarker verified by a prospective molecularly driven clinical trial; 2A, a…”

Genetic Profiling of Non-Small Cell Lung Cancer at Development of Resistance to First- or Second-Generation EGFR-TKIs by CAPP-Seq Analysis of Circulating Tumor DNA

“…Liquid biopsy is a safe method for repeated collection of circulating tumor DNA (ctDNA) during the course of treatment, and ctDNA is more representative of tumor heterogeneity compared with tumor DNA collected from a single tumor site. Next‐generation sequencing (NGS) has also emerged over the last decade as an efficient approach to the detection of genetic alterations, having the advantage that it is able to detect many genetic mutations in parallel . Such an advantage is relevant to clinical practice, in which it is important to detect several different genomic mutations rapidly.…”