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. Sponsored by TrakGene www.trakgene.com
Episodes
Lauren Giannetti-Safaza, 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 ...
Professor Marion McAllister shares the fascinating journey of developing the Genetic Counselling Outcome Scale, a groundbreaking tool that measures patient empowerment rather than just anxiety reduction. We explore how this simple questionnaire transformed genetic counselling assessment worldwide and evolved to meet changing healthcare needs. • Creating the first standardised measure for genetic counselling outcomes...
Scott Weissman shares his journey of building a telehealth genetic counseling private practice, discussing the challenges of insurance contracts, licensing across states, and adapting to technological changes in cancer genetics. • Opened private practice in 2016 as a side business, now seeing 15-20 patients weekly • Despite having licenses in 25-26 states, establishing insurance contracts remains a major obstacle • ...
Matt sits down with Angela Arnold-Ross, an Australian genetic counsellor living in New Jersey, for a candid and heartfelt conversation about professional resilience and personal growth in the field of genetic counselling. • Sharing the experience of being laid off after 15 years and the emotional impact of unexpected job loss • The stages of grief following a career disruption and how writing became therapeutic • Us...
Dr. Laura Yeates shares her journey as a cardiac genetic counsellor specialising in inherited heart diseases and supporting families affected by sudden cardiac death. We explore her recent PhD research on developing support interventions for these families and discuss the importance of wellbeing for genetic counselling professionals. • Cardiac genetic counselling focuses on inherited cardiomyopathies and arrhythmias...
Sarah Powell, CEO of Inherited Cancers Australia, shares her journey from triple-negative breast cancer diagnosis at age 29 to discovering her BRCA1 mutation and becoming a powerful advocate for others facing inherited cancer risk. • Diagnosed with breast cancer at 29 with no family history, Sarah later discovered she carries a BRCA1 mutation connected to her Ashkenazi Jewish ancestry • After treatment, Sarah became...
Dr. Matt Burgess interviews genetic counsellor and researcher Dr. Sibel Saya about integrating genetic testing into primary healthcare settings, focusing on polygenic risk scores as a tool for personalizing cancer screening. • Genetic counselling principles applied in primary care settings rather than just specialist clinics • Polygenic risk scores differ from traditional genetic tests by analyzing hundreds of commo...
This episode dives into polygenic risk testing, exploring how genetic data can inform healthcare strategies. We discuss the complexities of communicating risk, the role of polygenic scores in identifying disease susceptibility, and the evolving landscape of personalized medicine. • Introduction to polygenic risk testing and its significance • Insights from Dr. Erica Spaeth on cancer biology and GeneType • Engaging...
Join us for an insightful discussion that delves into the intricacies of genetic counseling through the lens of our guest, Dr. Gillian Hooker. We explore the domain's challenges, the importance of community, and the transformative power of empathy. • Introduction of Dr. Gillian Hooker and her role in genetic counseling • The impact of the COVID-19 pandemic on the genetic counseling profession • Personal stories of...
Kathy Langley opens up about her family's struggles with Huntington disease, sharing her personal journey from the silent pain of knowing her father's condition to advocating for awareness and support in the community. She highlights the emotional complexities surrounding genetic testing decisions and the need for improved education on HD within the healthcare sector. • Kathy’s early experiences with her father's HD...
Kira Dineen shares her transformative journey from a curious teenager to an award-winning genetic counselor and podcaster. The conversation explores the nuances of genetic counseling, the impact of technology like CRISPR, and the unexpected connections that shape careers in genetics. • Kira discusses her personal journey into genetic counseling • Emphasises the balance between technical skills and patient care • A...
This episode features a conversation with genetic counsellor Sarah Long, who shares her insights into non-invasive prenatal testing (NIPT) and its implications for expectant parents. We discuss the importance of positive predictive values, variations of unknown significance, and the ethical dilemmas faced by families navigating genetic testing. • Exploring the evolution and methodologies of NIPT • Clarifying the co...
This year, I was given a six month contract to work as a consultant medical science liaison at Myriad Genetics. I must admit, I was apprehensive; Myriad has a contentious reputation, especially amongst the genetic counseling community in North America. This is mainly due to Myriad's involvement in the patenting of the BRCA genes in the USA and Myriad's decision to not submit data to ClinVar unlike most other genetic ...
We're thrilled to welcome Kathryn van Diemen, a data aficionado turned genetic counsellor, who shares her captivating journey and current role at TrackGene. From discovering her love for data and genetics to exploring rugby fields and engaging in playful tussles with her Cockerspaniel, Pepper, Kathryn lets us in on the world behind the white coat! Tune in as we discuss the seismic shifts in genetic counselling educa...
Experience the gratifying journey of Dr. Alison McEwen, a pioneer in genetic counseling, and the current president of the Human Genetics Society of Australasia. Embark with us as we traverse Alison's path of setting up the UTS Genetic Counseling course, her innovative philosophy of creating 'brave spaces' that inspire students to push their boundaries, and her dedication towards a client-centered approach in healthca...
In an engaging exploration of genetics, join me as I converse with the distinguished Dr. Maya Chopra of Harvard Medical School and Boston Children's Hospital. We delve into her captivating journey of researching rare and complex disorders, providing an intriguing insight into the intersection of research and clinical practice. We also explore the crucial role of clinical geneticists in the fast-paced world of gene th...
Prepare to be immersed in the intriguing world of genetic counseling as we navigate its intersection with law, policy, and public health, with our esteemed guest, Julia Mansour. This episode promises to expand your horizons, offering insights into Julia’s career transition from law to genetic counseling, her stance on the controversial position statement from the Human Genetic Society of Australasia, and her unique e...
Get set for an enlightening journey into genetics and writing with the remarkable Janice Berliner. Our conversation traverses her career evolution from being a genetic counselor to steering the helm as a program director, revealing her fears, inspirations, and her passion for nurturing the next generation in the field. She's also candid about her plunge into academia and the transformative landscape of genetic testin...
Explore the captivating world of genetic counseling with Laura Forrest, a respected academic and associate genetic counsellor all the way from Melbourne, Australia. Together, we untangle the intricacies of qualitative research in clinical genetics and the fascinating journey through her PhD in familial communications. We also delve deep into her publications and discuss the promising Genetic Counseling Outcome Scale....
In this second episode of season 2 of Demystifying Genetics I chat with Chief Genetic Counselor Pilar Magoulas from Texas, USA. This is my first episode in this series where I chat with an American genetic counselor. https://www.texaschildrens.org/find-a-provider/pilar-magoulas-ms-cgc
Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/
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