Demystifying Genetics – Details, episodes & analysis

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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
• Pivoted to 100% telehealth during the pandemic, offering after-hours and weekend appointments
• Medicare recognition would be a game-changer for private practice genetic counselors in the US
• Excited about emerging technologies like long-range sequencing that could "fill in the gaps" for what we've been missing
• Works with the Norton and Elaine Sarnoff Center for Jewish Genetics providing education and carrier screening
• Carrier screening has evolved from testing for 6 conditions to 267 conditions over two decades
• Once gave Dr. Henry Lynch (namesake of Lynch syndrome) a "very small manicure" by cutting off his hangnail

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

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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
• Using networking to rebuild a career path through connections with other genetic counsellors
• Navigating the complex landscape of genetic counsellor licensure across different states in America
• How the Cures Act has changed counselling approaches when patients receive results immediately
• Personal health experiences transforming professional counselling styles and enhancing patient empathy
• The importance of advocating for patients and teaching them to navigate complex healthcare systems
• Why accurate medical terminology matters for effective patient communication and appropriate care

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

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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.

https://myriad.com/myriad-genetics-blog/my-myriad-susan/
https://myriad.com/

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

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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/

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

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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

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

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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

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

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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.

https://hobartwomensspecialists.com.au/staff/julia-monsour/

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

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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 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/2OdBE29
https://a.co/d/6aP8yOs

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

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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. 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-forrest

https://findanexpert.unimelb.edu.au/profile/135809-laura-forrest

Support the show

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

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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

Support the show

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