This story was first published on the 27th February 2017 for Pomegranate, a podcast of the Royal Australasian College of Physicians. Subscribe to the series on iTunes Store or Android.

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This is a two-part series looking at the place of genomics in clinical practice, and how a physician can hope to keep up with the pace of discovery and technological development. Sequencing the first human genome took 23 labs and 13 years, at a total cost of about 3 billion US dollars. Now a single laboratory can churn through a person’s DNA sequence in two weeks and new disease markers are being identified all the time.

Some people think this heralds a new era in ‘precision medicine’ – treatment tailored to an individual’s unique genotype. Others are concerned the technology will uncover genetic risk factors that patients weren’t looking for and didn’t want to know about.

In Part 1 we discuss the differences between these technologies in terms of cost and practical utility, using diagnosis of Mendelian conditions and rare developmental conditions as examples. We also talk about counselling parents through prenatal or preconception screening, and the psychological burden of genetic diagnoses.

Part 2 begins with the question of how to present uncertain predictive diagnoses to patients. This is becoming even more relevant with the outcomes of genome-wide association studies. The ethics of consenting patients to genome screening and informing them of incidental findings are discussed, as well as gene-targeted treatments at the cutting edge of cancer research.


Guests: Associate Professor Kristine Barlowe-Stewart  (Director, Master of Genetic Counselling Program, University of Sydney), Professor Leslie Burnett FChief Medical Officer, Genome One), Dr Michael Gabbett (Royal Brisbane and Women’s Hospital), Dr David Thomas (Director, Kinghorn Cancer Centre; Director, Cancer Division, Garvan Institute for Medical Research).

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.
Pomegranate’s executive producer is Anne Fredrickson.