Detecting Molecular Residual Disease Through Integrated Tumor Tissue, Germline, and Plasma Whole Genome Sequencing Analyses

A significant portion of cancer patients are initially diagnosed with localized disease and are eligible for curative interventions. However, residual tumors cells, representing molecular residual disease (MRD), remaining after these interventions might result in disease recurrence. This study presents an integrated whole-genome sequencing (WGS) analysis of patient matched tumor, germline, and circulating cell free DNA (cfDNA) from plasma that demonstrated high analytical specificity and sensitivity to determine the presence of circulating tumor DNA (ctDNA). These data support the potential for tumor-informed, non-bespoke MRD approaches for ctDNA detection across multiple solid tumor types and curative-intent clinical scenarios.