Ep21: Genomics for the Generalist – Part 2

This is a two-part series looking at how modern genomics is changing clinical practice, and how a physician can hope to keep up with the pace of discovery and technological development. Some single gene tests and gene panels have been available off-the-shelf for years, but whole genome sequencing is becoming more accessible and affordable every day. In the first episode we discussed the differences between these technologies in terms of cost and practical utility, using diagnosis of Mendelian conditions and rare developmental conditions as examples.The second episode begins with the question of disease risk and how to present uncertain predictive diagnoses. This is particularly relevant to research using genome-wide association studies, which is finding more and more markers with small risks of disease. This increases the likelihood of picking up diagnoses incidental to the ones a clinician might be looking for. The ethics of consenting patients to genome screening and informing them of potential markers are discussed, as well as gene-targeted treatments at the cutting edge of cancer research.Guests Associate Professor Kristine Barlowe-Stewart FHGSA(GenCounsel) (Director, Master of Genetic Counselling Program, University of Sydney) Professor Leslie Burnett FRCPA, FHGSA, FCAP (Chief Medical Officer, Genome One) Dr Michael Gabbett FRACP (Royal Brisbane and Women's Hospital) Dr David Thomas FRACP (Director, Kinghorn Cancer Centre; Director, Cancer Division, Garvan Institute for Medical Research).Production This episode was produced by Mic Cavazzini. Music from Blue Dot Sessions ('Cloud Line'), Chris Zabriskie ('Is That You or Are You You?'), Alex Fitch ('Celeste'), Cory Gray ('Terminal Two'), and Kromatic ('Club Crunk for Monkeys'); photo courtesy Shutterstock. The production manager was Anne Fredrickson. Editorial feedback was provided by RACP Fellows Dr Pavan Chandrala, Dr Tessa Davis, Dr Rebecca Grainger, Dr Michael Herd, Dr Paul Jauncey, Dr Joseph Lee, Dr Marion Leighton, Dr Anutosh Shee and Dr Ellen Taylor, and Advanced Trainee Dr Katrina Gibson. Please visit the RACP website for a transcript embedded with citations. Fellows of the College can claim CPD credits for listening and additional reading.