Demystifying Genetics

Living with CMT: Finding Answers in the SORD Gene

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.

‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1)

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.

Unraveling Charcot-Marie-Tooth (CMT): A Journey Through Generations. Demystifying Genetics and CMT1A with Peter Critchley

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.

Genetic Ventures: From Counseling to Entrepreneurship. Demystifying genetics with Erica Ramos (Favourite gene - HFE Hereditary Hemochromatosis)

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.

From Rural Roots to Genetic Advocate. Demystifying Genetics with Kate Wilson.

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.

Inside Genetic Counselling: Navigating Direct-to-Consumer Testing and Research. Demystifying Genetics with Joshua Nolan

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.

Pioneering Genetics in Ghana: A Groundbreaking Journey. Demystifying Genetics with Ahmed-Sherrif Kanvela Yussif

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.

Genetic Counseling Unwrapped: A Deep Dive. Demystifying Genetics with Jaime Jessen-Brown

Join host Matt, a seasoned genetic counselor, as he delves into the evolving world of clinical genetics in the latest episode of Demystifying Genetics. With guest Jaime Jessen-Brown, a genetic counselor based in Toronto, Canada, this podcast episode explores their shared journey from studying in Newcastle, Australia, to Jaime's diverse career path.
Jaime shares insights from her experience transitioning from a prenatal clinic to a Medical Science Liaison role, discussing the challenges and advancements in somatic genetic testing and the integration of genetics into oncology. They reflect on the growing understanding of hereditary cancer syndromes and the ever-expanding role of genetic counselors in precision medicine.
In a candid discussion, Matt and Jaime talk about the importance of active listening, the impact of informed patient education, and the ongoing struggle with burnout in the field. Jaime also highlights the significance of mentorship and advocacy in the evolving landscape of genetics and the implications of advancements in technology on the profession.
Tune in for an enlightening conversation that unravels the intricacies of genetic counseling, offering a deeper understanding of the vital role genetic counselors play in modern medicine.

Unraveling Polygenic Risk Scores (PRS) in Genetics. Demystifying Genetics with Kylie Morgan

Join Matt Burgess in this episode of Demystifying Genetics as he sits down with Dr. Kylie Morgan, a genetic counsellor from Melbourne, to explore the emerging field of polygenic risk scores. Discover how this new form of genetic testing is shaping clinical practices in both Australia and the United States.
Learn about the personal experiences of genetic counsellors, Matt and Kylie, as they discuss the intricacies of genetic testing and the evolving landscape of genetic counseling. They share anecdotes about their own dogs' quarantine experiences, drawing parallels to their professional lives.
The conversation delves into the challenges faced by genetic counsellors in Australia, including the lack of national guidelines and the importance of personalized patient care. Matt and Kylie also touch on their role in shaping equitable healthcare and the advancements in genetic testing technologies.

How Genetic Counseling Is Evolving Beyond Hospital Walls. Demystifying Genetics with Lauren Giannetti Sferrazza

Lauren Giannetti-Sferrazza, a genetic counselor from New Jersey, shares her journey transitioning from clinical practice to industry and discusses the evolution of genetic counseling roles. Throughout the conversation, she offers insights into balancing professional responsibilities and personal experience as a pregnant genetic counselor preparing for childbirth.• Clinical burnout as a catalyst for moving to industry positions• Shifting perceptions of industry roles from "the dark side" to valuable career paths• Potential for broader patient impact through industry versus direct clinical care• Balance between job security in public health versus higher compensation in industry• Implementing gender-inclusive care in genetic testing companies• Evolution of non-invasive prenatal testing (NIPT) and the rise of "gender reveal" culture• Point-of-care genetic testing models in cancer care• Need for genetic counselors to support clinician-ordered testing• Balancing ideal practices with practical realities in genetic healthcare delivery
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/