Demystifying Genetics

Demystifying Genetics with Kira Dineen

Send us a textKira 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 Call to action: Find out more about Kira and her podcast, DNA Today, at www.dnatoday.com.Support the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Sarah Long

Send us a textThis 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 showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Susan Manley

Send us a textThis 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 testing laboratories. It is not uncommon for contractors to feel as though they are not treated as well as employees and unfortunately this was my experience at Myriad. It surprised me, as a genetic counselor and knowing Myriad's own subpar reputation, I thought my experience would be positive, however this was not the case. Although not unique to Myriad, I witnessed low morale, staff layoffs, restructuring, and staff concerned for their ongoing employment. Communication between departments was lacking and nonchalance and apathy abounded. The good news is Myriad has lots of room for improvement and I truly believe they can be leaders in genetic medicine and lead with integrity.  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 is needed. 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 showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Kathryn van Diemen

Send us a textWe'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 showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Alison McEwen

Send us a textExperience 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.McEwenSupport the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Maya Chopra

Send us a textIn 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-chopraChopra-Amiel Gordon Syndrome https://www.ncbi.nlm.nih.gov/medgen/1794185Support the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Julia Mansour

Send us a textPrepare 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 experiences living in Tasmania. Our conversation doesn't stop there! Ever wondered how the worlds of public health and law intertwine in real-life scenarios? Enter the realm of petrol sniffing prevention in remote Australia and the fight against Ebola, where Julia’s experiences beautifully demonstrate the power of collaboration across communities, governments, and private entities. Be prepared to question the black and white nature of rules as we explore the ethical challenges of genetic testing. This episode isn't just an interview; it's a journey into the heart of public health, law, and genetic counseling, with lessons and stories that are sure to leave you enriched and enlightened.https://hobartwomensspecialists.com.au/staff/julia-monsour/Support the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Janice Berliner

Send us a textGet 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 testing technology she's witnessed over her career.The second half of our chat takes a thought-provoking turn, exploring the crossroads of ethics, genetics, and writing. Berliner's decade-old book on ethics in genetic counseling is a testament to its enduring relevance. Hear her insights on the delicate dance of discovery and patient communication and her aims of making genetics more accessible to the average person. We also discuss the representation, or lack thereof, of genetic conditions in fiction, and the importance of authenticity in writing. A conversation with Janice Berliner is a deep dive into the human side of genetics and the power of storytelling in science. Tune in, you won't want to miss it!https://janiceberliner.com/https://www.baypath.edu/academics/faculty-directory/biography/janice-berliner/https://a.co/d/2OdBE29https://a.co/d/6aP8yOsSupport the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Laura Forrest

Send us a textExplore 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. Along the way, enjoy lighter moments as Laura shares the story of her new puppy Alfie and his toilet training tale. Furthermore, we underscore the transformative power of feedback on refining our work.In the second half, we navigate the significance of mixed-methods research in shaping a robust academic and research career. Through an enriching conversation, we provide insight into the multi-method studies, their applications, and the merits of qualitative and quantitative methods. Laura also opens up about her experiences of co-authoring papers with her husband. Shifting gears, we discuss the Genetic Counseling Outcome Scale (G-COS), an innovative tool designed to measure the empowerment outcomes of genetic counseling. Discover the five constructs of the G-COS and learn how it can amplify the effectiveness of research and practice. Tune in to this enlightening episode and stay informed!Genetic Counseling Outcome Scale https://pubmed.ncbi.nlm.nih.gov/21255005/https://www.petermac.org/staff-details/laura-forresthttps://findanexpert.unimelb.edu.au/profile/135809-laura-forrestSupport the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Demystifying Genetics with Pilar Magoulas

Send us a textIn 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-cgcSupport the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/