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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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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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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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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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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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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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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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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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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

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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

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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

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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- Nicole 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

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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"

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

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

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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/

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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/

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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

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Lucinda is a fabulous genetic counsellor who I was lucky enough to study with back in 2004. We attended a conference last year in Cambridge, UK and before the start of the conference we spent a few days in Paris together where this photo was taken. 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

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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

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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/

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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/

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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

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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.

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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.

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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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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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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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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.

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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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