Demystifying Genetics podcast

Player FM - Internet Radio Done Right

18 subscribers

Dodano seven lat temu

Treść dostarczona przez Matt Burgess. Cała zawartość podcastów, w tym odcinki, grafika i opisy podcastów, jest przesyłana i udostępniana bezpośrednio przez Matt Burgess lub jego partnera na platformie podcastów. Jeśli uważasz, że ktoś wykorzystuje Twoje dzieło chronione prawem autorskim bez Twojej zgody, możesz postępować zgodnie z procedurą opisaną tutaj https://pl.player.fm/legal.

Mind The Business: Small Business Success Stories

1
Strategic Growth: Knowing When to Scale Your Business 30:28

13 dni temu30:28

Na później

Listy

Polub

Polubione

30:28

Building a thriving business isn't always about rapid expansion. When should you hit the accelerator on growth, and when should you pump the brakes? Jannese and Austin are in Nashville, Tennessee to talk with Taku Zhou and Sibusiso Ajayi of TKZ Architecture LLC to explore this crucial entrepreneurial crossroads. The duo shares candid insights from their journey building TKZ Architecture, revealing the moments they knew it was time to scale – and importantly, when it wasn't. They discuss how they balanced the allure of growth against the need to strengthen their foundation through refined workflows, established protocols, and market positioning. Tune in as we unpack the strategic decision-making that goes into sustainable business expansion and learn the telltale signs that you're ready for growth and how to execute that transition successfully. Learn more about how QuickBooks can help you grow your business: QuickBooks.com See omnystudio.com/listener for privacy information.…

Demystifying Genetics

Udostępnij

Źródło serii•Feed

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

30 odcinków

#Society #Matt Burgess #Genetics #Bioethics #Science #Fitness #Biology #Medicine #Genetic Counseling #Clinical Genetics #Moral Dilemas

Demystifying Genetics

18 subscribers

updated 2 dni temu

Udostępnij

Źródło serii•Feed

30 odcinków

#Society #Matt Burgess #Genetics #Bioethics #Science #Fitness #Biology #Medicine #Genetic Counseling #Clinical Genetics #Moral Dilemas

Wszystkie odcinki

1
Beyond Genes: Can We Truly Measure the Impact of Genetic Counselling? Demystifying Genetics with Marion McAllister 44:15

2 dni temu44:15

44:15

Send us a text 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/…

1
What Happens When You Become Your Own Boss in Genetic Counseling? Demystifying Genetics with Scott Weissman. 48:25

8 dni temu48:25

48:25

Send us a text 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/…

1
Resilience After Redundancy: A Genetic Counsellor's Journey; Demystifying Genetics with Angela Arnold Ross 55:22

16 dni temu55:22

55:22

Send us a text 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/…

1
Demystifying Genetics with Laura Yeates 57:45

23 dni temu57:45

57:45

Send us a text 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/…

1
Demystifying Genetics with Sarah Powell from Inherited Cancers Australia 51:14

30 dni temu51:14

51:14

Send us a text 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/…

1
Demystifying Genetics with Sibel Saya 43:53

5 weeks temu43:53

43:53

Send us a text 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/…

1
Demystifying Genetics with Erica Spaeth 49:41

6 weeks temu49:41

49:41

Send us a text 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/…

1
Demystifying Genetics with Gillian Hooker 45:55

7 weeks temu45:55

45:55

Send us a text 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/…

1
Demystifying Genetics with Kathy Langley 37:21

8 weeks temu37:21

37:21

Send us a text 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/…

1
Demystifying Genetics with Kira Dineen 47:52

9 weeks temu47:52

47:52

Send us a text 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 Call to action: 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/…

1
Demystifying Genetics with Sarah Long 36:32

10 weeks temu36:32

36:32

Send us a text 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/…

1
Demystifying Genetics with Susan Manley 38:17

1 year temu38:17

38:17

Send us a text 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/ Support the show Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/…

1
Demystifying Genetics with Kathryn van Diemen 34:17

2 years temu34:17

34:17

Send us a text 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/…

1
Demystifying Genetics with Alison McEwen 39:21

2 years temu39:21

39:21

Send us a text 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/…

1
Demystifying Genetics with Maya Chopra 39:42

2 years temu39:42

39:42

Send us a text 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/…

Zapraszamy w Player FM

Odtwarzacz FM skanuje sieć w poszukiwaniu wysokiej jakości podcastów, abyś mógł się nią cieszyć już teraz. To najlepsza aplikacja do podcastów, działająca na Androidzie, iPhonie i Internecie. Zarejestruj się, aby zsynchronizować subskrypcje na różnych urządzeniach.