Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra^®

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Advanced solid tumors require precise molecular characterization for effective treatment.
• Next Generation Sequencing (NGS) has become crucial in identifying actionable genomic alterations.

Purpose of the Study:

• To develop and validate GEM ExTra, a comprehensive genomic profiling (CGP) assay for advanced solid tumors.
• To assess the assay's performance in detecting various genomic alterations and its clinical utility.

Main Methods:

• Utilized Next Generation Sequencing (NGS) with paired tumor-normal subtraction methodology.
• Incorporated whole exome and whole transcriptome sequencing to detect SNVs, indels, CNAs, TMB, MSI, and gene fusions.
• Employed proprietary bioinformatics and clinical curation for actionable reporting.

Main Results:

• Achieved high analytic specificity (>99.9%) and sensitivity (98.8%).
• Identified clinically actionable alterations in 83.9% of 1,435 patient samples.
• RNA fusion findings alone informed therapeutic recommendations in 2.5% of cases.

Conclusions:

• GEM ExTra is a highly sensitive and specific CGP assay for advanced solid tumors.
• The assay effectively identifies a high percentage of actionable genomic alterations, including gene fusions.
• GEM ExTra provides valuable information for personalized cancer treatment strategies.