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.

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 pharmacogenomics and epigenetics — highlighting where the field has been and where it’s going.

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 family experiences that shape the company’s patient-first approach.

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 craft of bead-making.

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 discussing how training and definitions may need to change as the profession grows.

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 counseling.

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 authentic content can empower patients and combat misinformation.

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 promise and limits of experimental treatments and compassionate access, the strength of the rare-disease community, and the small joys—service dogs, activism, and creative outlets—that sustain people living with rare conditions.

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 various aspects of life, from physical challenges to societal misconceptions. The episode sheds light on his personal experiences, from childhood nerve conduction tests to day-to-day living with the condition. Listeners will also learn about the impactful work being done with CMT Aussie Kids, a program that connects children with CMT across Australia, providing support and fostering friendships. This episode offers a profound understanding of how individuals and families navigate life with CMT and underscores the importance of awareness and support for people living with rare genetic diseases.

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 diverse roles of genetic counselors beyond clinical settings and Erica’s journey, encompassing her experiences in direct-to-consumer testing and the startup world. Tune in for Erica’s unique perspectives on genetic medicine, the future of preventive healthcare, and her entrepreneurial venture, Alcance Genomics. With engaging anecdotes and expert insights, this episode serves as an enlightening guide through the world of genetics, highlighting the profound impact of genetic counseling in both traditional and innovative spaces.

In the season finale of Demystifying Genetics, host Matt is joined by fellow genetic counselor and podcaster, Kate Wilson, the voice behind All Access DNA. They delve into the evolving landscape of genetic counseling, exploring Kate's personal journey from rural beginnings to becoming a passionate advocate for equitable access to clinical genetics. This episode highlights the disparities within healthcare systems, the importance of accessible genetic information, and how Kate is breaking norms with her dual role as a counselor and a science communicator. Tune in for a compelling discussion on the responsibilities and opportunities for genetic counselors beyond traditional clinical roles. Enjoy this insightful conversation as Matt concludes the season and hints at exciting changes for the show's future format. Here is a link to the article (Tschirgi et al., 2023) that we discuss in this episode. This is Kate's podcast: https://allaccessdna.podbean.com/ Thank you to my sponsor TrakGene.

In this episode of "Demystifying Genetics," host Matt Burgess speaks with English research genetic counsellor Joshua Nolan. They explore topics such as the underrepresentation of males in genetic counselling, the intricacies of direct-to-consumer genetic testing, and the symbiosis between clinical and research work in genetics. Joshua shares his insights into the professional challenges and personal experiences that shape his approach to genetic counseling. They also discuss the importance of emotional intelligence in the field and how genetic counselors play a crucial role in bridging the gap between genetic testing and the broader healthcare system. Tune in for a thought-provoking conversation that highlights the evolving landscape of genetic counselling.

This episode of the "Demystifying Genetics" podcast features an insightful conversation with Ahmed-Sherrif Kanvela Yussif, one of the first genetic counsellors in Ghana. Host Matt Burgess delves into Ahmed's pioneering journey, exploring the role of genetic counseling in Ghana's healthcare system and its impact on public health, particularly regarding sickle cell disease. Ahmed shares his inspiring transition from teaching to genetic counseling and discusses the cultural and religious dynamics influencing healthcare decisions in West Africa. Despite connectivity challenges, this episode offers a rich perspective on the evolving landscape of genetics in developing countries.