Using Illumina TSO 500 ctDNA v2 Assay in Support of NCI Trial Research

The Comprehensive Genomic Profiling (CGP) ctDNA (circulating tumor DNA) panel generates complex biomarkers, e.g., tumor mutational burden and microsatellite stability status along with mutations and copy number variants. By detecting these biomarkers, the panel enables comprehensive genomic profiling of ctDNA in plasma samples.

 

The assay has been analytically validated. It is being used for profiling plasma ctDNA from trial specimens sponsored by the National Cancer Institute (NCI). The Illumina ctDNA assay identified key mutations in the plasma ctDNA in a cohort screened for the NCI-MATCH trial when their tissue-based genomic profiling tests were unavailable. In another cohort of NCI-MATCH with gynecological cancers, the CGP ctDNA v2 assay demonstrated greater than 88% positive percentage agreement in variant identification compared to tissue-based profiling (using tissue test as the reference).

 

Learning Objectives