New Era for Next-Generation Sequencing in Japan

Area of Science:

• Oncology
• Genomics
• Molecular Biology

Background:

• Understanding the molecular basis of cancer has led to targeted therapies.
• Discovery of oncogenes and tumor suppressor genes offers new treatment avenues.
• Specific driver oncogenes (EGFR, ALK, ROS1, BRAF, HER2) are clinically actionable in solid tumors.

Purpose of the Study:

• To review the implementation of Next-Generation Sequencing (NGS) in Japan for cancer gene profiling.
• To highlight the clinical application of NGS in guiding patients to relevant clinical trials.
• To address the need for developing a medical curriculum for clinical variant interpretation.

Main Methods:

• Utilizing Next-Generation Sequencing (NGS) technologies for simultaneous testing of multiple cancer-related genes.
• Implementing NGS-based mutational profiling in hospitals for solid tumor patients.
• Reviewing recent progress and regulatory approvals of cancer gene panels in Japan.

Main Results:

• NGS enables comprehensive genetic testing on small tissue samples.
• Several Japanese hospitals are actively using NGS for patient screening and clinical trial matching.
• The Ministry of Health, Labor, and Welfare in Japan has approved multiple cancer gene panels for clinical use.

Conclusions:

• NGS is increasingly integrated into clinical practice in Japan for solid tumors.
• Successful implementation requires addressing the need for specialized training in variant interpretation and reporting.
• Further development of medical education is crucial for maximizing the benefits of NGS in oncology.