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

Support the show

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/

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/

Support the show

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

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

Support the show

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

Lauren Giannetti-Sferrazza, a genetic counselor from New Jersey, shares her journey transitioning from clinical practice to industry and discusses the evolution of genetic counseling roles. Throughout the conversation, she offers insights into balancing professional responsibilities and personal experience as a pregnant genetic counselor preparing for childbirth. • Clinical burnout as a catalyst for moving to industry positions • Shifting perceptions of industry roles from "the dark side" to valuable career paths • Potential for broader patient impact through industry versus direct clinical care • Balance between job security in public health versus higher compensation in industry • Implementing gender-inclusive care in genetic testing companies • Evolution of non-invasive prenatal testing (NIPT) and the rise of "gender reveal" culture • Point-of-care genetic testing models in cancer care • Need for genetic counselors to support clinician-ordered testing • Balancing ideal practices with practical realities in genetic healthcare delivery

Support the show

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

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/

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/

Hello! I've returned with my podcast Demystifying Genetics. In this return pod I talk to senior genetic counsellor Elly Lynch. Elly and I discuss genetic counselling in the current climate in Melbourne, Australia.  https://www.linkedin.com/in/elly-lynch-9089192a/?originalSubdomain=au

Support the show

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

This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics. First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss: • The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results • What a gene is and what variants in a gene means • The My Gene Counsel Living Lab Report • Hereditary cancer testing including BRCA1 & BRCA2 • APOE testing and dementia • Gene patenting • Case studies of misinterpretation of genetic results due to no genetic counsellor being involved. 

Second Guest- I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family. 

Third Guest – Krystal Barter – Founder of Pink Hope Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource.  https://www.mygenecounsel.com/about-us/ https://www.krystalbarter.com/home-mobile

Support the show

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

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 In vitro 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.  https://geneticfield.com.au/learn-more/the-team/

Support the show

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

Welcome to a podcast all about Huntington disease (HD). Joining me in this podcast is Senior Social Worker John Conaghan. I love all my guests and love all of my conversations about demystifying genetics, however this podcast feels special. John is such a caring and empathic worker and his kindness shines through in this conversation. We discuss what Huntington disease is and how it affects people with the condition and also the affect it has on their families. John has a long history of working with people and families affected with HD. John was working before the gene for HD was discovered. We talk about what it was like when genetic testing for the HD gene became available. Before direct genetic testing was available, a less sophisticated test called “linkage” was available and John discusses the issues with this type of testing and the hope that came with direct genetic testing. The new hope is that of genetic therapies that may come. https://lifesupportscounselling.com.au/counsellors/john-conaghan/ https://www.jodieharrison.com/news/speeches/king-s-birthday-honour-for-john-conaghan-oam/

Support the show

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

Prof Martin Delatycki joins me for this podcast. Martin is a clinical geneticist in Melbourne, Australia. He works clinically, but also has a strong research interest. We speak about the following genetic conditions: • Friedreich’s ataxia • Hereditary Haemochromatosis • Tay Sachs disease • Spinal Muscular atrophy • Spinocerebellar ataxia type 3 More information about these conditions can be found at rarediseases.org We also talk about the genetic research and clinical trials that Martin is involved with including ones regarding resveratrol, rehabilitation and community screening.  https://www.mcri.edu.au/researcher-details/martin-delatycki https://www.vcgs.org.au/news/order-of-australia-martin-delatycki/

Support the show

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

In this podcast I was lucky enough to speak to Kristine Barlow – Stewart. Kris has been a genetic counsellor in Australia for many years. Kris is highly involved with genetics education and this is what we have a good chat about. We explore issues such as genetics education, evidence based genetic counselling research and the diagnostic odyssey. We also discuss the management of uncertainty in genetic counselling and the future of this profession.  https://api.profiles.sydney.edu.au/AcademicProfiles/profile/resource?urlid=kristine.barlowstewart&type=cv

Support the show

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

Lucinda is a fabulous genetic counsellor who I was lucky enough to study with back in 2004. Lucinda was granted a Churchill Fellowship in 2016. She spent a number of weeks visiting clinical genetics services in the USA and UK in 2017 and the report, which Lucinda authored is entitled “To gain a strong evidence base for counselling patients about whole genome testing - USA, UK”.  https://profiles.uts.edu.au/Lucinda.Freeman

Support the show

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

Demystifying Genetics with Jane Tiller This podcast can be accessed via Apple iTunes Podcasts at https://itunes.apple.com/au/podcast/demystifying-genetics/id1387090904 or on Buzzsprout at http://demystifying-genetics.buzzsprout.com/ I was lucky enough to record this podcast with Jane Tiller in the studio in Melbourne. The photo is a selfie of us outside the studio. Jane and I discussed direct to consumer testing, life insurance and genetics and the tristate killer. Listen in for an interesting conversation about genetics and ethics. One of the topics we discussed was genetic sexual attraction. Wikipedia has an interesting page on this topic https://en.wikipedia.org/wiki/Genetic_sexual_attraction https://lens.monash.edu/@jane-tiller

Support the show

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

Professor Marion McAllister shares the fascinating journey of developing the Genetic Counselling Outcome Scale, a groundbreaking tool that measures patient empowerment rather than just anxiety reduction. We explore how this simple questionnaire transformed genetic counselling assessment worldwide and evolved to meet changing healthcare needs. • Creating the first standardised measure for genetic counselling outcomes based on patient-reported benefits • Translating the scale across cultures and navigating challenging concepts like the English word "condition" • Developing the shorter Genomics Outcome Scale for economic evaluations and mainstreamed genetic testing • Evolution of genetic counselling education from traditional face-to-face to blended e-learning formats • Exploring how AI could complement genetic counselling by handling routine tasks • Balancing qualitative and quantitative research methods when developing healthcare assessment tools • Reflecting on research into gender differences in genetic testing for hereditary cancer syndromes Join me for future episodes of Demystifying Genetics as we continue exploring the human side of genetics and genomics.

Support the show

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

I had the pleasure of catching up with Genetic Counsellor Yasmin in this latest podcast. Yasmin discussed many issues related to genetic counselling including pharmacogenomics and genetic conditions hypercholesterolemia and cardiac genetics.  https://www.npm.sg/news-and-events/editorial-features/genetic-counselling-job-passion-and-calling/

Support the show

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

It was a pleasure having Ron as my first guest on my podcast. We covered many topics including Ron's private genetic counselling practice in Sydney, Australia, what genetic counselling actually is, prenatal genetic counselling, expanded carrier testing and the professional body for clinical genetics in Australia; the Human Genetics Society of Australasia. https://thegeneticclinic.com.au/about-us/

Support the show

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

This is the first podcast in a series called Demystifying Genetics where I, Matt Burgess, Genetic Counsellor am interviewed by my partner Daniel Goodfellow. Podcasts to follow will have me interviewing genetic counsellors and others working in or involved with genetics.  Check out Dan at Actually: https://www.actually.team/ and https://www.actuallygolden.com/people

Support the show

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

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

Support the show

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

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

Support the show

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

Dr. Laura Yeates shares her journey as a cardiac genetic counsellor specialising in inherited heart diseases and supporting families affected by sudden cardiac death. We explore her recent PhD research on developing support interventions for these families and discuss the importance of wellbeing for genetic counselling professionals. • Cardiac genetic counselling focuses on inherited cardiomyopathies and arrhythmias • Dr. Yeates completed her PhD during COVID, developing support interventions for families affected by sudden cardiac death • Genetic counsellors need a personalised "self-care toolkit" that evolves throughout their career • The importance of multidisciplinary team meetings where genetic counsellors provide valuable expertise • "Mainstreaming" works best when genetic counsellors are embedded within specialty departments • Being called "stat" to map a complex family tree validated the unique skills genetic counsellors bring to healthcare teams • Certification is challenging but valuable, making genetic counsellors more reflective practitioners • The profession requires continuous learning as "the technology we'll be using in 10 years hasn't been invented yet"

Support the show

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

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 procedures If 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.

Support the show

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

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 years If 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.

Support the show

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

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 

Support the show

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

In this episode of "Demystifying Genetics," host Matt Burgess speaks with English research genetic counsellor Joshua Nolan. They explore topics such as the underrepresentation of males in genetic counselling, the intricacies of direct-to-consumer genetic testing, and the symbiosis between clinical and research work in genetics. Joshua shares his insights into the professional challenges and personal experiences that shape his approach to genetic counseling. They also discuss the importance of emotional intelligence in the field and how genetic counselors play a crucial role in bridging the gap between genetic testing and the broader healthcare system. Tune in for a thought-provoking conversation that highlights the evolving landscape of genetic counselling.

This episode of the "Demystifying Genetics" podcast features an insightful conversation with Ahmed-Sherrif Kanvela Yussif, one of the first genetic counsellors in Ghana. Host Matt Burgess delves into Ahmed's pioneering journey, exploring the role of genetic counseling in Ghana's healthcare system and its impact on public health, particularly regarding sickle cell disease. Ahmed shares his inspiring transition from teaching to genetic counseling and discusses the cultural and religious dynamics influencing healthcare decisions in West Africa. Despite connectivity challenges, this episode offers a rich perspective on the evolving landscape of genetics in developing countries.

In the season finale of Demystifying Genetics, host Matt is joined by fellow genetic counselor and podcaster, Kate Wilson, the voice behind All Access DNA. They delve into the evolving landscape of genetic counseling, exploring Kate's personal journey from rural beginnings to becoming a passionate advocate for equitable access to clinical genetics. This episode highlights the disparities within healthcare systems, the importance of accessible genetic information, and how Kate is breaking norms with her dual role as a counselor and a science communicator. Tune in for a compelling discussion on the responsibilities and opportunities for genetic counselors beyond traditional clinical roles. Enjoy this insightful conversation as Matt concludes the season and hints at exciting changes for the show's future format.

Here is a link to the article (Tschirgi et al., 2023) that we discuss in this episode.

This is Kate's podcast: https://allaccessdna.podbean.com/

Thank you to my sponsor TrakGene.

Join host Matt as he engages in a captivating conversation with his guest, American genetic counselor Erica Ramos. In this episode of Demystifying Genetics, Erica shares insights into her favorite gene, the HFE gene, associated with hereditary hemochromatosis. Their discussion delves into the evolution of understanding this condition and the importance of prevention and proactive health measures.

The episode also explores the diverse roles of genetic counselors beyond clinical settings and Erica’s journey, encompassing her experiences in direct-to-consumer testing and the startup world. Tune in for Erica’s unique perspectives on genetic medicine, the future of preventive healthcare, and her entrepreneurial venture, Alcance Genomics.

With engaging anecdotes and expert insights, this episode serves as an enlightening guide through the world of genetics, highlighting the profound impact of genetic counseling in both traditional and innovative spaces.

Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family.

Peter shares insights into how this hereditary peripheral neuropathy affects various aspects of life, from physical challenges to societal misconceptions. The episode sheds light on his personal experiences, from childhood nerve conduction tests to day-to-day living with the condition.

Listeners will also learn about the impactful work being done with CMT Aussie Kids, a program that connects children with CMT across Australia, providing support and fostering friendships. This episode offers a profound understanding of how individuals and families navigate life with CMT and underscores the importance of awareness and support for people living with rare genetic diseases.

Host Matt Burgess interviews genetic counsellor and content creator Dena Goldberg (Dena DNA) about her path from clinical genetics to social media, her work educating the public on Lynch syndrome and cancer genetics, and how storytelling makes complex science accessible.

The episode also covers Dena’s personal experiences with infertility and an undiagnosed medical condition, her tips for self-advocacy in healthcare, and how authentic content can empower patients and combat misinformation.

In this episode Matt Burgess interviews Darryl Beitsch about his lifelong experience with Charcot‑Marie‑Tooth (CMT) and the late discovery that his neuropathy is caused by mutations in the SORD gene.

They discuss diagnosis, nerve testing, genetic testing advances, family implications, volunteering with CMT Australia, and the importance of research, community support, and practical management.

Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in GUK1 being identified. 

They also explore how mito affects day-to-day life, the promise and limits of experimental treatments and compassionate access, the strength of the rare-disease community, and the small joys—service dogs, activism, and creative outlets—that sustain people living with rare conditions.

Host Matt Burgess talks with Canadian genetic counsellor Rachel Vanneste about lessons learned from early-career mistakes, the unexpected charm of the sonic hedgehog gene (SHH), and how sales and business skills are shaping modern genetic counselling.

They discuss counselling in a second language, career pivots across clinic, industry and labs, the case for embedding genetic counselling in primary care, and the importance of volunteering in the profession.

Host Matt Burgess speaks with Dawn Allain, a genetic counsellor and leader at Ohio State University, about how genetic counselling has evolved. They discuss telehealth, mainstreaming of genetic testing, and how education and competency-based training must adapt for today’s genomic era.

The episode also covers leadership and mentorship in the profession, specialty practice areas like imprinting disorders, and emerging topics such as pharmacogenomics and epigenetics — highlighting where the field has been and where it’s going.

Host Matt speaks with Dr. Patrick Short, scientist and CEO of Sano Genetics, about building a patient-centered genomics company, the challenges of designing and recruiting for clinical trials, and the evolving role of diagnostics in precision medicine.

They discuss Short’s research into non-coding DNA, the practical and ethical questions around predictive and newborn screening, gene therapy prospects, and lessons from his personal family experiences that shape the company’s patient-first approach.

Dr. Aideen McInerney-Leo explores hereditary melanoma (CDKN2A), diagnostic disclosure in Turner syndrome, mainstreaming genomics, gene therapy, and the expanding role of genetic counsellors in research and patient care.

Through clinical stories, family perspectives and practical takeaways on testing and screening, this episode highlights how research and clear communication improve outcomes — with a personal note on the therapeutic craft of bead-making.

Host Matt chats with American genetic counsellor Dr Lisa Schwartz about the evolving professional identity of genetic counsellors, the role of networking and qualitative research (including authors' positionality), and how clinical training translates into lab, policy and education roles.

They also swap stories about travel, outdoor winery concerts, Stevie Nicks, their dogs, and advances in genetics such as Duchenne research, while discussing how training and definitions may need to change as the profession grows.

Host Matt Burgess interviews Gidon Schwartz from Jnetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry.

They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity challenges around asking about ethnicity, and where to find resources and genetic counseling.

Host Matt Burgess talks with Dr Jodie Ingles, a leading cardiac genetic counsellor and researcher, about inherited heart conditions, supporting families after sudden cardiac events, and translating genomic discoveries into clinical care.

The episode covers variant classification, health equity, the evolving role of genetic counsellors, and the importance of mentorship and practical changes needed to bring genomic testing into everyday practice.

Genetic counsellors Matt and Sandra explore Huntington disease, prenatal and lab-based testing ethics, and how lab genetic counsellors act as gatekeepers. They discuss exclusion testing, the challenges of writing clear lab reports, and recent advances in gene therapy.

The episode also covers the growing role of AI and automation in genetic labs, the evolving responsibilities of lab GCs, and how testing impacts life choices like career planning and family decisions.

In this episode host Matt Burgess speaks with Canadian genetic counsellor Erica Pai about pre‑implantation genetic testing (PGT). They discuss how PGT has evolved, technical and ethical challenges (including difficult genes like CYP21A2), the continuing role of linkage analysis in embryo testing, and the complexities of mosaic and segmental results.

They also cover the emotional and practical aspects of counselling families through IVF and PGT, issues of access and equity, and the importance of clinical support when deciding whether to pursue testing.