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Updated: Jul 5, 2025

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
[Overview of Clinical Application of Whole Genome Analysis for Cancer]
1Genomic Medicine, Breast Oncology Center, The Cancer Institute Hospital of the Japanese Foundation for Cancer Research.
Abstract:
Cancer genomic medicine in Japan began in earnest with the implementation of gene panel testing covered by national health insurance in June 2019. However, the information obtained from this testing is limited to less than 0.1% of the entire genome. To enhance the effectiveness of therapy, understand the intricate biology of cancer, and develop new therapeutic drugs, it has become essential to promote the analysis of the whole genome. In Japan, the Action Plan for Whole Genome Analysis(Version 1)was released in December 2019. In 2021, AMED project"the full-scale operation of cancer whole genome analysis"was launched. The Action Plan for Whole Genome Analysis 2022 set a goal to return the information promptly to patients and citizens. Project Implementation Preparation Office was organized in April 2023 for acceleration of the system development for the clinical whole genome analysis. This paper introduces the current efforts and discuss the future perspectives of cancer genome medicine in Japan.
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