CPM Seminar

Early cancer detection by enrichment of circulating tumor DNA

Andre Marziali

UBC Physics and Astronomy & Boreal Genomics

Recent advances in DNA sequencing speed and cost are enabling mutated DNA shed from tumors to be detected in blood samples from a cancer patient. While this "liquid biopsy" is beginning to be utilized in treatment selection for metastatic patients, the accuracy of the approach and its cost are not currently amenable to detecting the few circulating tumor DNA (ctDNA) strands that might be present in an asymptomatic patient. Such detection, if it were practical, would enable a simple blood test as a screening tool for early detection of cancer.

The challenge is the 1:30 trillion required specificity if one is to detect a single mutated DNA strand in a blood sample containing 100,000+ normal genomes, and the cost of sequencing all the normal DNA to find the one or few mutants.Using approaches from physics and electrophoresis, we have developed a highly specific method for enriching a DNA sample for cancer mutations, overcoming both the cost and specificity barriers.

In this presentation, I will discuss the technology to achieve such separation, the development of a clinical assay surrounding this technology, and clinical results obtained in recent studies. I will also discuss the process, advantages, and pitfalls of entrepreneurship in an academic environment and the creation of Boreal Genomics to commercialize the technology presented in this talk.