Speaker: Pierre-Jean Lamy, Institut Médical d’Analyse Génomique, Montpellier, France
Date and time: Mon 05-Nov-2018, 08:15-09:00
Room: Lomond Auditorium
With the development of 1) multiplex genomic analysis, 2) the generalization of somatic mutation detection in tumor DNA for patient’s treatment personalization and 3) the discovery of a DNA test from a simple blood draw, we can now provide the foundation for personalized therapy.
Analysis of circulating tumor DNA (ctDNA) is now routinely used in the clinical setting and can radically change a patient’s course of care. This approach could give important information on the tumor genetic content while simultaneously being less invasive than a tissue biopsy. The analysis of ctDNA has been validated for multiple different clinical indications: as an alternative method for diagnosis, minimally invasive molecular profiling, treatment monitoring, detection of residual disease or identification of resistance mutations.
Here we present some iconic examples of the introduction of ctDNA into clinical use. Technically, ctDNA has been detected using a variety of untargeted and targeted approaches such as deep sequencing-based technologies and conventional or digital PCR-based methods. We also present various biological and technical challenges, which need to be resolved for the integration of ctDNA analysis into routine clinical practice. Finally, we discuss an original method based on MassARRAY® with high analytical sensitivity, cost effectiveness, and efficient workflows that can solve such issues.