REWIND<< Genomics for the generalist

In Pomegranate <<REWIND>> we go back to some classic episodes from the last ten years that have stood the test of time. The first throwback takes us back to 2017 with episodes 20 and 21 titled “Genomics for the Generalist.” While there’s been a flood of genomic discoveries since this story was first published, it’s still a good primer on fundamental concepts and everyday challenges for the physician advising a patient. The expert guests include a genetic pathologist, a clinical geneticist, a genetic counsellor and a medical oncologist.

The podcast covers the different roles for single gene tests and whole genome sequencing, which has become much more accessible. We tackle question of disease risk and how to present uncertain predictive diagnoses to consumers. This is particularly relevant to using genome-wide association studies, which re finding more and more markers with very small associated 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 incidental findings are also discussed.

Chapters
3:04 Mendelian vs multi-gene diseases
6:42 Whole genome sequencing
10:09 Prenatal testing
12:38 What do physicians need to know?
17:07 Pharmacogenomics
19:52 Genetic counselling
22:40 Funding of genetic tests
33:46 Incidental findings
39:13 Consent and privacy issues

Guests (2026 affiliations)
Professor Leslie Burnett FRCPA, FHGSA, FCAP (University of New South Wales; Virtus Health)
Professor Michael Gabbett FRACP (Queensland University of Technolgy; Mendel Genetics)
Associate Professor Kristine Barlowe-Stewart FHGSA (University of Sydney; Children’s Cancer Institute)
Prof David Thomas FRACP PhD (University of New South Wales; Omico)

Production
Produced by Mic Cavazzini DPhil. Music courtesy of FreeMusicArchive includes, 'Cloud Line' by Blue Dot Sessions, 'Is That You or Are You You?' by Chris Zabriskie, First Holes’ by Cory Gray, ‘Brand New World’ by Kai Engel. Music licenced from Epidemic Sound includes ‘Abyss’ by Luwaks. Image customised for RACP. 

Editorial feedback for 2017 podcast provided by members of the podcast editorial group 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.

Add educational activity to MyCPD as educational activity or visit web page for a transcript and references.