Technical Evaluation of Commercial Mutation Analysis Platforms and Reference Materials for Liquid Biopsy Profiling

摘要: Molecular profiling from liquid biopsy, in particular cell-free DNA (cfDNA), represents an attractive alternative to tissue biopsies for the detection of actionable targets and tumor monitoring. In addition PCR-based assays, Next Generation Sequencing (NGS)-based cfDNA assays are now commercially available being increasingly adopted clinical practice. However, validity these products as well utility management patients with cancer has yet be proven. Within framework Innovative Medicines Initiative (IMI) program CANCER-ID we evaluated use reference materials designed ctDNA testing derived Diagnostic Leukaphereses (DLA) inter- intra-assay intra- inter-laboratory comparisons. three experimental setups, a broad range including ddPCR, MassARRAY various NGS-based were tested. We demonstrate that both predetermined VAFs DLA samples extremely useful performance assessment mutation analysis platforms. Moreover, our data indicate substantial variability NGS respect sensitivity specificity highlighting importance extensive validation test before offering tests routine