In this ninth Demystifying Genetics podcast I discuss Fragile X and other conditions of learning disability with Dr Mike Field, Consultant Clinical Geneticist. Mike has a lovely way of taking complex concepts and issues and explaining in a way that is easy and straightforward to understand. Mike has been involved with many research projects to do with the genetics of learning disability and we spent some time talking about this. We also covered Invitro Fertilisation (IVF) and preimplantation genetic diagnosis (PGD), which are techniques that an individual or couples may choose to achieve a pregnancy and by eliminating the risk of passing a certain condition on to the next generation. We end our podcast together by discussing bioinformatics and it’s relationship with clinical genetics and the future of genetics. Support the show

Demystifying Genetics with Mike Field

This is a podcast series called Demystifying Genetics where I, Matt Burgess, Genetic Counsellor interview other genetic counsellors or people working in genetics. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica.au

Society & Culture

Personal Journals

History

Philosophy

Places & Travel

Medicine

Science & Medicine

Science

Health & Fitness

Life Sciences

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 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. Support the show

Demystifying Genetics with Susan Manley

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? Support the show

Demystifying Genetics with Kathryn van Diemen

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 infamilial 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! Support the show

Demystifying Genetics with Alison McEwen

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! Support the show

Demystifying Genetics with Maya Chopra

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 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. Support the show

Demystifying Genetics with Mike Field

Download our free app to listen on your phone