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Obtaining tissue specimens from patients with progressed disease status to perform molecular analysis can be challenging. As an alternative testing method, liquid biopsy testing, which involves using circulating cell-free tumor DNA (ccfDNA) isolated from plasma samples, has improved in the last couple of years. Liquid biopsy-based approaches serve as an option when tissue is limited or not available.
Additionally, liquid biopsy might be used as a tool for follow-up analysis to check for tumor recurrence and/or resistance to therapy. Beyond its utility for comprehensive genomic profiling (CGP), liquid biopsy-based approaches also provide a path to enable follow-up analysis to track disease progression and/or response to therapy. PGDx elio™ plasma resolve, now known as PGDx elio™ plasma focus, a highly targeted approach that enables the interrogation of 33 genes with microsatellite instability-high (MSI-H) reporting, and PGDx elio™ plasma complete, a more comprehensive approach covering more than 500 genes and reports on blood tumor mutational burden (TMB) in addition to MSI, were implemented in our laboratory for identifying mutations in liquid biopsy specimens.
To assess performance of these assays, we compared the PGDx elio products with other techniques. We were able to show concordance among the assays, and in some cases, the PGDx elio assays outperformed other products in detecting mutations.
The goal of this webinar is to share the learnings around the process to onboard a liquid biopsy solution in a laboratory setting and to review the performance of our two liquid biopsy assays versus other molecular testing techniques.
Presenter
Nicole Pfarr, Ph.D.
Head of the Molecular Diagnostic Unit/Head of the Next Generation Research Facility, Institute of Pathology at the Technical University of Munich
After starting her research at the Johannes Gutenberg University of Mainz (Germany) in the field of congenital human genetic diseases in children, she moved to Heidelberg in 2009 to work at the Thorax Clinic of the University Hospital Heidelberg in the field of pulmonary arterial hypertension. In 2013, she joined the team of Professor Wilko Weichert at the Institute of Pathology in Heidelberg. There, she helped integrate the technique of next-generation sequencing into the molecular pathology diagnostic laboratory.
In 2015, she started working at the Technical University of Munich in her current positions. In 2021, she was named as one of the chairs of the German Working Group for Molecular Pathology. She has published more than 100 articles mainly in the field of cancer.