Demystifying Genetics
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.
Episodes
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...
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 c...
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 g...
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 an...
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 throu...
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.
...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 every...
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 car...
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 volunt...
Host Matt Burgess speaks with Dawn Allain, a genetic counsellor and leader at Ohio State University, about how genetic counselling has evolved. They discuss telehealth, mainstreaming of genetic testing, and how education and competency-based training must adapt for today’s genomic era.
The episode also covers leadership and mentorship in the profession, specialty practice areas like imprinting disorders, and emerging topics such as...
Host Matt speaks with Dr. Patrick Short, scientist and CEO of Sano Genetics, about building a patient-centered genomics company, the challenges of designing and recruiting for clinical trials, and the evolving role of diagnostics in precision medicine.
They discuss Short’s research into non-coding DNA, the practical and ethical questions around predictive and newborn screening, gene therapy prospects, and lessons from his personal ...
Dr. Aideen McInerney-Leo explores hereditary melanoma (CDKN2A), diagnostic disclosure in Turner syndrome, mainstreaming genomics, gene therapy, and the expanding role of genetic counsellors in research and patient care.
Through clinical stories, family perspectives and practical takeaways on testing and screening, this episode highlights how research and clear communication improve outcomes — with a personal note on the therapeutic...
Host Matt chats with American genetic counsellor Dr Lisa Schwartz about the evolving professional identity of genetic counsellors, the role of networking and qualitative research (including authors' positionality), and how clinical training translates into lab, policy and education roles.
They also swap stories about travel, outdoor winery concerts, Stevie Nicks, their dogs, and advances in genetics such as Duchenne research, while...
Host Matt Burgess interviews Gidon Schwartz from Jnetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry.
They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity challenges around asking about ethnicity, and where to find resources and genetic coun...
Host Matt Burgess interviews genetic counsellor and content creator Dena Goldberg (Dena DNA) about her path from clinical genetics to social media, her work educating the public on Lynch syndrome and cancer genetics, and how storytelling makes complex science accessible.
The episode also covers Dena’s personal experiences with infertility and an undiagnosed medical condition, her tips for self-advocacy in healthcare, and how authen...
In this episode Matt Burgess interviews Darryl Beitsch about his lifelong experience with Charcot‑Marie‑Tooth (CMT) and the late discovery that his neuropathy is caused by mutations in the SORD gene.
They discuss diagnosis, nerve testing, genetic testing advances, family implications, volunteering with CMT Australia, and the importance of research, community support, and practical management.
Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in GUK1 being identified.
They also explore how mito affects day-to-day life, the promis...
Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family.
Peter shares insights into how this hereditary peripheral neuropathy affects variou...
Join host Matt as he engages in a captivating conversation with his guest, American genetic counselor Erica Ramos. In this episode of Demystifying Genetics, Erica shares insights into her favorite gene, the HFE gene, associated with hereditary hemochromatosis. Their discussion delves into the evolution of understanding this condition and the importance of prevention and proactive health measures.
The episode also explores the diver...
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