Talk Title: Translating genomics to the clinic for rare and advanced cancers


Today, we are in the era of precision cancer medicine. It is now realistic to sequence the entire genome from a tumour from a patient with advanced cancer in a clinically relevant time frame. This information reveals the complex tapestry of mutations that drive each tumour, across the entire size spectrum of genomic variation, from single base changes to entire chromosomal abnormalities. Often these mutation spectra can point to the mechanism that caused a given cancer, from viral infection, UV damage or smoking. Importantly there are increasing numbers of targeted therapies, designed to attack particular mutations, which only show benefit in patients that carry the same mutation. This era of precision cancer medicine represents an unprecedented opportunity to improve the care of patients with advanced, or rare cancers: by identifying the mutations that drive each tumour, or are linked to targeted therapies, we are enrolling patients onto clinical trials to test whether the targeted therapy will have any benefit in different cancer types. Already we are showing patient benefit in children and adults with advanced, or high-risk cancers.

In this presentation I will present an overview of cancer genomics in real time, and how this information can be used to improve outcomes for patients particularly with rare and advanced cancers.

Mark Cowley


Dr Mark Cowley, Team Leader – Translational Genomics, Senior Bioinformatics Research Officer, Early Career Research Fellow, Garvan Institute

Dr Mark Cowley is a bioinformatician, with expertise in Whole Genome Sequencing, and a passion for developing and translating genomics-based tests to the clinic to help patients with cancer and inherited genetic disorders. He is  the head of the Tumour Genomics Program, and co-head of Translational Genome Informatics Program within the Kinghorn Centre for Clinical Genomics at Garvan Institute, and a mid-career fellow of NSW Health. Dr Cowley’s research involves developing approaches to understand the genetic drivers of disease, and use this information to improve patient care through providing a genetic diagnosis, or identifying therapeutically actionable mutations in cancer.

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