Demystifying Genetics – Details, episodes & analysis

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.

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.

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 resilience and post-traumatic growth  • The evolution of training programs in genetic counseling  • Discussion on emotional challenges within the counseling settings  • The necessity of adapting to the fast-paced world of healthcare  • Insights into the functionality of the US healthcare system  • Challenges genetic counselors face in billing and procedures  • Closing reflections on the future of genetic counseling

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Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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 symptoms  • The emotional impact of discussing HD in the family  • The dilemma of wanting children while facing genetic risks  • Insights into the testing process and its psychological effects  • The role of stigma and the importance of awareness  • Advocacy for education on HD for medical professionals  • Support mechanisms for families affected by HD  • Kathy’s efforts to raise awareness through social media

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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  • Addresses common misconceptions about the emotional weight of the profession  • Shares insights into the groundbreaking use of CRISPR technology  • Highlights the importance of podcasting in enhancing professional growth  • Explores the unexpected recognition from Kourtney Kardashian’s blog  Find out more about Kira and her podcast, DNA Today, at www.dnatoday.com.

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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 concept of positive predictive value in genetic testing  • Highlighting the crucial role of pre-test and post-test counselling  • Discussing the emotional impact of variants of unknown significance  • Understanding parental perspectives on knowledge versus uncertainty in testing  • Addressing the misinformation surrounding the MTHFR gene  • Reflecting on the ethical considerations of genetic screening and disability  Listen to the episode for an enriching exploration of genetics that concerns us all!

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

Myriad Genetics has had 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 testing laboratories. Myriad Genetics has a suite of fantastic, industry leading genetic tests, that help thousands of people each month. However, a lab is more than it's tests. Cultural change may be needed, but one bright star at Myriad is genetic counselor Susan Manley, the Senior Vice President of Medical Services. Join us as we uncover Myriad's evolving stance on ClinVar, a public database for genetic variant information. From initial reluctance to eventual contribution, discover the driving forces behind this monumental decision. Learn about the challenges faced by Myriad, the strategies used to reclassify variants, and the complexities they grapple with when explaining uncertain results to patients. As we wrap up, Susan offers her forward-looking views on the future of genetic medicine, leaving us with plenty to ponder. Embark on this enlightening exploration with us, and prepare to see genetic medicine through a new lens. https://myriad.com/myriad-genetics-blog/my-myriad-susan/ https://myriad.com/

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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 education, with much more comprehensive courses now available compared to our and Kathryn's student days. You'll hear all about the significant contributions of Alison McEwan in introducing the data management aspect to UTS students, and the human elements in effecting new program implementations. Ever wondered why we tend to place the man on the left when designing family trees? We're discussing it all, referencing a paper by Jehannine Austin that challenges such conventions and patriarchy's implications in understanding gender. Lastly, Kathryn offers insights into TrackGene's software evolution, responding to a society that's forever changing. Discover how genetic counsellors' patient-centered approach has become a key driving force for these software changes, from redefining fields to creating relationships among gender-diverse members. So, block out the noise, plug in your earbuds, and get ready for an enlightening conversation. You'll walk away with a fresh perspective on the intertwining worlds of data and genetics. So, are you ready to be inspired? https://www.linkedin.com/in/kathryn-van-diemen-80b48313/

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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 healthcare. Dr. McEwen also takes us through her riveting PhD journey focused on familial cancer, the heart of her research, and her implementation of a philosophy of practice in genetic counseling. Gain insights into her work at the Human Genetics Society of Australasia and her reflections on the World Congress of Genetic Counseling. This episode is a must for anyone intrigued by genetic counseling and the enriching challenges of establishing a course in the field. So, get ready to be enlightened, entertained and left craving for more. It's time to peek behind the curtain of genetic counseling with Dr. Alison McEwen! https://profiles.uts.edu.au/Alison.McEwen

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/

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 therapy. The middle segment of our conversation takes an ethical bend as we dissect the moral dilemmas and credentialing challenges associated with gene therapy. We discuss the complexities involved in assigning scores to ethical considerations and examine how the recredentialing process in healthcare has transformed over time. Moreover, we touch on the benefits of approaching medical learning from a mature perspective. In the final part of our discussion, Dr. Chopra shares an enlightening account of her discovery and research on the Chopra-Amiel Gordon Syndrome. This dominant condition exhibits varied levels of severity, adding to the complexities of its understanding. We also highlight the importance of genetic counseling in genomic medicine and shed light on the power of multilingual communication in this sphere. The episode concludes on a lighter note with Dr. Chopra sharing amusing anecdotes about her canine companions. Tune in to this compelling episode for an immersive experience into the world of genetics! https://www.childrenshospital.org/directory/maya-chopra Chopra-Amiel Gordon Syndrome https://www.ncbi.nlm.nih.gov/medgen/1794185

Support the show

Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/