Demystifying Genetics

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.

Host Matt Burgess speaks with Assistant Professor Barbara Harrison of Howard University about APOL1-related kidney disease, sickle cell disease, and the role of cultural awareness in genetic counselling. They discuss health inequities, community trust around new therapies like gene editing, and efforts to increase diversity in the profession through the GOLDEN mentorship program.

Dr Matt Burgess talks with Mary-Anne Young about the real-world impact of genomics on healthcare and genetic counselling. They cover BRCA1/2 history, rapid testing, integration with oncology, and using polygenic risk to personalise care. The episode explores family systems and counselling techniques, ethical issues around returning research findings, workforce diversity, and practical steps to implement genomic advances in clinics. Listeners will get a concise look at how genomics is changing patient care, communication with families, and the direction of the genetic counselling profession.

Host Matt Burgess talks with Dr Jodie Ingles, a leading cardiac genetic counsellor and researcher, about inherited heart conditions, supporting families after sudden cardiac events, and translating genomic discoveries into clinical care. The episode covers variant classification, health equity, the evolving role of genetic counsellors, and the importance of mentorship and practical changes needed to bring genomic testing into everyday practice.

Genetic counsellors Matt and Sandra explore Huntington disease, prenatal and lab-based testing ethics, and how lab genetic counsellors act as gatekeepers. They discuss exclusion testing, the challenges of writing clear lab reports, and recent advances in gene therapy. The episode also covers the growing role of AI and automation in genetic labs, the evolving responsibilities of lab GCs, and how testing impacts life choices like career planning and family decisions.

Host Matt Burgess talks with Canadian genetic counsellor Rachel Vanneste about lessons learned from early-career mistakes, the unexpected charm of the sonic hedgehog gene (SHH), and how sales and business skills are shaping modern genetic counselling. They discuss counselling in a second language, career pivots across clinic, industry and labs, the case for embedding genetic counselling in primary care, and the importance of volunteering in the profession.