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Lauren Giannetti-Safaza, 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

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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.

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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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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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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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Demystifying Genetics is sponsored by TrakGene
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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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Demystifying Genetics is sponsored by TrakGene
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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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Demystifying Genetics is sponsored by TrakGene
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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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Demystifying Genetics is sponsored by TrakGene
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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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Demystifying Genetics is sponsored by TrakGene
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