Claim OwnershipDemystifying Genetics
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Description
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au.
56 Episodes
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Host Matt Burgess talks with Dr. Rachel Mills, a genetic counsellor and educator, about her PhD work on professional identity, how conferences and mentorship shape early-career genetic counsellors, and the changing roles of teaching, research and advocacy in the field.
The conversation covers training choices, the role of research and mindfulness in education, challenges in recruitment for studies, and practical advice for building community and confidence as genetic counsellors.
Host Matt Burgess speaks with Navy veteran Dan "Dry Dock" Shockley, who was diagnosed at 51 with attenuated familial adenomatous polyposis after routine screening revealed hundreds of polyps. Dan shares his experience with genetic testing, major surgeries including a permanent ileostomy and pancreatic-sparing resection, and how he connected with Dr. Henry T. Lynch.
Now an advocate and educator, Dan discusses surveillance, genetic counselling, living positively with rare gene mutations, and his work teaching medical students and health professionals worldwide about early detection and prevention.
Host Matt Burgess speaks with genetic counsellor and NSGC president Sara Pirzadeh‑Miller about her early research on values in genetic counselling, how life experience shapes practice, and the evolving role of genetic counsellors.
They also discuss the clinical challenges of the CDH1 gene, risk interpretation, screening versus prophylactic surgery, the rise of genetic counselling assistants, and future genomic innovations such as gene therapies and improved risk stratification.
Senior genetic counsellor Kirsten Boggs discusses building GCR Connect, the rise of genetic counsellor-led research, and lessons from Mackenzie’s Mission - Australia’s national reproductive carrier screening study.
We explore practical challenges and ethics of large-scale genomic screening, the future of newborn whole-genome programs, consent and data storage issues, and how genetic counsellors can bridge clinical care, research and policy.
In this episode host Matt Burgess speaks with Canadian genetic counsellor Erica Pai about pre‑implantation genetic testing (PGT). They discuss how PGT has evolved, technical and ethical challenges (including difficult genes like CYP21A2), the continuing role of linkage analysis in embryo testing, and the complexities of mosaic and segmental results.
They also cover the emotional and practical aspects of counselling families through IVF and PGT, issues of access and equity, and the importance of clinical support when deciding whether to pursue testing.
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