Cancer genomics: state of the science and clinical translation


Session type:

Elaine R Mardis1
1The Genome Institute at Washington University School of Medicine, St Louis, USA


The increasing application and analysis of next-generation sequencing toward cancer genomes, transcriptomes and epigenomes has resulted in an integrated view of somatic alterations that spans from 'N of 1' studies to large cohorts. Recent trends include improved characterisation of heterogeneity and how it changes across progression events or due to clinical treatment, improved monitoring of progression and therapy resistance offered by genotyping circulating nucleic acids or tumour cells, and improved understanding regarding the nature of acquired resistance, to name a few. In the clinic, genotyping of patients to properly assign targeted therapy is increasing in scale and sophistication. Co-opting the immune system is another area of therapeutic intervention being informed by genomics. My lecture will focus on several vignettes that are exemplary of the wide-scale impact of cancer genomics, from foundational knowledge about somatic alterations and continued discovery to translational mechanisms that are beginning to impact patients' lives.