Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with...

Area of Science:

• Oncology
• Molecular Diagnostics
• Genomics

Background:

• Existing cancer diagnostic panels lack racial specificity, particularly for Asian populations.
• Targeted therapies require molecular profiling, but current methods may not be optimized for specific ethnic groups.

Purpose of the Study:

• To develop and validate a racially specific companion diagnostic panel for Korean cancer patients.
• To enable targeted anticancer drug application based on tumor molecular characteristics.

Main Methods:

• Development of the Korean Pan-cancer Companion Diagnostic (CDX) Panel, including 31 genes for single nucleotide variants, 9 for copy number variations, and 15 for targeted drug responses.
• Analytical validation using 241 frozen tumor tissues and 71 formalin-fixed paraffin-embedded (FFPE) samples.
• Optimization of a filtering protocol for somatic variants from tumor-only samples.

Main Results:

• The panel targets 30 anticancer drugs and is cost-effective.
• It is optimized for cancer type-specific therapy in Korean patients across solid cancer types.
• The protocol allows analysis without matched normal samples, reducing limitations of existing approaches.

Conclusions:

• The Korean Pan-cancer CDX Panel provides a racially specific, cost-effective solution for targeted cancer therapy in Korean patients.
• The panel streamlines molecular profiling, potentially reducing test turnaround time and cost.
• This approach facilitates personalized cancer treatment by analyzing tumor-only samples effectively.