Demystifying Genetics

From Diagnosis to Advocacy: Sarah Powell on Inherited Cancer and BRCA1. Demystifying Genetics with Sarah Powell

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 involved with Pink Hope (now Inherited Cancers Australia) to find peer support from others who understood the unique challenges of genetic risk• The "Angelina Jolie effect" dramatically increased awareness about BRCA mutations and genetic testing, helping many families understand their options• Inherited Cancers Australia recently rebranded from Pink Hope to better include men in the conversation about genetic risk and reflect the wider range of cancers involved• The recent recommendation to offer genetic testing to all women with breast cancer will identify many more families at risk, but raises concerns about healthcare system capacity• Long waitlists for preventative surgeries remain a major challenge, with some women developing cancer while waiting for risk-reducing proceduresIf you're concerned about your family history of cancer, visit InheritedCancers.org.au for support, information, and connection to others facing similar challenges.
This is a special episode for the 3rd Podcasthon.
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Beyond BRCA: Bringing Polygenic Risk into Primary Care. Demystifying Genetics with Sibel Saya

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 common variants with small individual effects• Australia and New Zealand have the highest bowel cancer rates globally, making early detection tools particularly important• Tools like CRISP help assess individual bowel cancer risk using lifestyle factors combined with genetic information• Cultural differences must be considered when implementing genetic testing in diverse communities• GPs see genetic risk assessment as within their scope despite time constraints• Risk information alone doesn't change behaviour – it's the opportunity to discuss screening that matters• Implementation research happening alongside efficacy trials to speed translation into practice• Stratified screening approaches could be widely available within 5-10 yearsIf you'd like to learn more about polygenic risk scores or risk-stratified cancer screening, visit our website or subscribe to Demystifying Genetics for future episodes on these topics.
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Decoding Risk: Understanding Polygenic Risk Scores in Modern Medicine. Demystifying Genetics with Erica Spaeth

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 analogies to explain complex genetic concepts • The challenges clinicians face when interpreting genetic data • The accuracy and reliability of polygenic risk tests • Discussion of economic impacts and public health implications • Exploration of how polygenic risk informs prevention strategies • The evolution of personalized medicine in genetics • Future prospects for polygenic risk testing in clinical settings 
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Beyond the Science: The Emotional Work of Genetic Counselling. Demystifying Genetics with Gillian Hooker

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 TrakGenehttps://www.trakgene.com/

Living in the Shadow of Huntington Disease & the HTT gene. Demystifying Genetics with Kathy Langley

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
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Podcasting, Patients, and the Power of Story in Genetics. Demystifying Genetics with Kira Dineen

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.
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

MTHFR and Misunderstandings: Counselling Through Confusion. Demystifying Genetics with Sarah Long

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!
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

ClinVar, Controversy, and the Case for Change at Myriad Genetics. Demystifying Genetics with Susan Manley

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/
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Demystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/

Pedigrees, Pronouns, and Progress: Shaping Inclusive Genetics Tools with TrakGene. Demystifying Genetics with Kathryn van Diemen

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 TrakGenehttps://www.trakgene.com/

More Than a Degree: Creating Space for Growth in Genetic Counselling Education. Demystifying Genetics with Alison McEwen

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 TrakGenehttps://www.trakgene.com/