Functional Characterization and a Real-World Clinical Laboratory Pilot of the Foundation for the National Institutes of Health Circulating Tumor DNA Quality Control Materials.

Abstract

PURPOSE: We previously developed quality control materials (QCMs) to aid in the development of circulating tumor DNA (ctDNA) assays. In this study, we further characterize the performance of the QCMs relative to clinical samples. METHODS: QCMs were provided by three manufacturers. To functionally characterize the QCMs, we (1) evaluated EGFR L858R and ex19del (range, 0.5%-5.0% variant allele frequency [VAF]) in QCMs compared with clinical samples by droplet digital polymerase chain reaction (ddPCR), targeted-amplicon sequencing (Tag-seq), and hybrid capture next-generation sequencing (NGS); and (2) evaluated the QCMs and clinical samples near the Tag-seq limit of detection. A clinical pilot w..