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.