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Late diagnosis of cancer is associated with low survival rates and high healthcare costs. Major efforts are underway to detect cancers at an earlier stage when treatment may be curative. Effective early detection strategies require the development of sensitive and specific technologies that are cost-effective and acceptable to target populations. Minimally invasive sampling combined with the analysis of genomic alterations can allow high analytical specificity for cancer detection. However, major challenges remain to realize the promise of these approaches. In this presentation I will focus on the limit of detection for rare events and present solutions to overcome hard sampling limits in the analysis of cell free tumor DNA (ctDNA). Using early stage prostate cancer as an exemplar, I will present retrospective and prospective methods to empirically define the levels of ctDNA and a roadmap for testing the added value of genomic technologies in the diagnostic pathway for this heterogeneous disease
Charlie studied Biochemistry at Heriot-Watt University, followed by a PhD in Oncology at the University of Cambridge. Since then his work has focussed on functional genomics, cancer genetics and epigenetic profiling. In this work he has mapped the regulatory landscape of the androgen receptor in prostate cancer, identified new cancer driver genes and developed new methods for circulating tumour DNA analysis. His current research focusses on epigenetic markers as non-invasive targets for cancer detection and monitoring.