GenoCare— with Dr Ali Archibald & friends

Dr Ali Archibald

GenoCare is a podcast for clinicians, patients, and anyone navigating genetic and genomic care. Hosted by Dr Ali Archibald, the series explores how genomic testing is used in real clinical practice — and what happens beyond the test result. Through conversations with clinicians, researchers, and people with lived experience, the podcast covers reproductive and cancer genomics, psychosocial impacts of testing, and how health systems can better support patients and families. Produced by GenoCare Pty Ltd for education and general information.

  1. Reproductive Carrier Screening After a Genetic Diagnosis, with Giorgina Maxwell

    6d ago

    Reproductive Carrier Screening After a Genetic Diagnosis, with Giorgina Maxwell

    Episode Summary Most people approach reproductive genetic carrier screening with little prior experience of genetic conditions. But what about the families who already know? In this episode, host Alison Archibald speaks with genetic counsellor and PhD candidate Giorgina Maxwell about her published Master of Genetic Counselling research — exploring how couples who have already experienced a genetic condition in a child or pregnancy approach expanded carrier screening, and what this means for how we support them. Guest Giorgina Maxwell is a genetic counsellor and PhD candidate at Flinders University, where she is researching childhood and young-onset glaucoma, genetic causes, and barriers to accessing genetic testing and counselling. Her Master of Genetic Counselling research, completed through the University of Melbourne, was conducted in partnership with the Mackenzie's Mission team and has since been published. What We Cover Why carrier screening matters beyond the known diagnosis — Just because a genetic condition has already appeared in a family doesn't mean there couldn't be others. Research confirms we all carry variants for multiple conditions, and Giorgina's work shows that families who have already experienced a diagnosis strongly value being screened for the broader range. How lived experience changes the way people see likelihood — Families who have already been the "one in 100,000" don't hear risk statistics the same way as couples with no prior experience. They identify with the numbers differently — and this fundamentally shapes how they engage with screening, with future pregnancy planning, and with the information they receive. "Doing our due diligence" — The phrase that became the title of Giorgina's paper. Families in the study described carrier screening as part of being responsible parents — a way to gain information, restore a sense of agency, and plan for their family's future after traumatic experiences of diagnosis or pregnancy loss. Short-term anxiety versus long-term reassurance — All participants described some anxiety while waiting for results. But every single one said it was worth it. One participant put it plainly: nothing could be more traumatic than what they had already been through. What clinicians need to know — Don't narrow the focus to the condition already in the family. Check in with families down the track, not just at the point of diagnosis. And when a family reaches family planning again, that is the time to ask about psychosocial support — because returning to pregnancy after trauma brings a lot with it. The case for universal offering — Families in this study were among the strongest advocates for carrier screening being offered at a population level — not just to those with known family histories. Their experience of not knowing earlier shaped a powerful belief that everyone should be given the option.

    30 min
  2. Genetic discrimination - barriers to genomic testing and research participation

    Jun 2

    Genetic discrimination - barriers to genomic testing and research participation

    For years, concerns about life insurance discrimination have influenced decisions about whether to pursue genetic testing. Patients have delayed testing, declined participation in research, or worried about how genetic information might affect their future access to insurance. In this week's GenoCare Podcast episode, Ali speaks with Dr Jane Tiller — genetic counsellor, lawyer, researcher, and the key advocate behind a landmark change to Australian law. After almost a decade of research, policy work, advocacy, and collaboration across the genetics community, legislation has now passed that will prohibit life insurers from using genetic test results to discriminate against Australians seeking life insurance. What has changed in Australia regarding genetic testing and life insurance Why genetic discrimination became a barrier to genomic testing and research participation The limitations of the previous industry self-regulated moratorium The decade-long journey from research evidence to legislative reform How patients, clinicians, researchers, advocacy groups, and the genetics community helped drive change What the new legislation means for individuals and families considering genetic testing When will the changes take effect, and what do clinicians need to know now Lessons from the advocacy process and how meaningful policy change happens This is a significant policy development in genomics in Australia. As genomic testing becomes increasingly integrated into healthcare, reducing fears of insurance discrimination can improve access to testing, increase participation in genomic research, and help ensure that people can make decisions about genetic testing based on healthcare needs rather than concerns about financial consequences. For anyone working in genetics, medical specialties, rare disease, reproductive genetics, primary care, or health policy, this episode provides valuable insight into both the practical implications of the new legislation and the remarkable advocacy effort that made it possible

    51 min
  3. Episode 16: Genetics in the IVF Setting: The Role of Genetic Counsellors Across the Fertility Journey — with Rebecca Dickson

    May 27

    Episode 16: Genetics in the IVF Setting: The Role of Genetic Counsellors Across the Fertility Journey — with Rebecca Dickson

    What does a genetic counsellor actually do inside an IVF clinic? Far more than most people realise. In this episode, Ali speaks with Rebecca Dickson, Genetic Counselling Manager at Genea, one of Australia's leading fertility services, about the expanding role of genetic counselling across the entire fertility journey — from carrier screening, genetic testing related to infertility and donor conception, through to embryo testing, complex results, and prenatal support. Rebecca shares how genetic counsellors are now embedded across multiple touchpoints in the IVF process, supporting patients through some of the most emotionally and clinically complex decisions they'll ever face. She also speaks about the psychosocial toll of fertility treatment, why the timing of contact matters so much, and the power of having a plan when everything feels uncertain. Together they explore: - What genetic counsellors do in the fertility setting - Reproductive carrier screening in IVF — how couples are screened and what happens when increased risk is identified - Screening egg and sperm donors - Preimplantation genetic testing (PGT) — testing embryos for known conditions, structural rearrangements, and aneuploidy - Common genetic tests in fertility care — carrier screening, karyotypes, PGT and customised testing - What is a karyotype? — chromosomes, structural rearrangements, and why this test matters for people experiencing infertility or miscarriage, and the early testing - The genetic counselling process for PGT — what patients need to know about timelines, family involvement, and managing expectations - Mosaic embryos — what mosaicism means, how results are interpreted, and the complex decision-making around transferring mosaic embryos - Why every patient's situation is different — individual circumstances, values, and reproductive history shape how results are received - Genetics and the donor space — screening intended parents and donors, matching, managing unexpected findings, and the complexities of international vs. local donors - The emotional side of fertility and genetics — vulnerability, long treatment journeys, and supporting patients who are physically and emotionally drained - How genetic counsellors provide support — understanding the journey, the power of a plan, involving partners, and knowing when to listen - Where the gaps are — lack of formal integration of genetic counselling into standard fertility care pathways, and the need for clearer referral standards - Where fertility genetics is heading — expanded carrier screening panels, polygenic risk scores, whole genome sequencing as a diagnostic tool, and the increasing complexity of results - The importance of consistency in care and having skilled genetic counsellors alongside advancing technology This episode is for genetic counsellors, fertility specialists, obstetricians, GPs, midwives, and anyone involved in reproductive care. It's also for individuals and couples navigating IVF who want to better understand the role of genetic counsellors and the support that exists. Guest: Rebecca Dickson — Genetic Counselling Manager, Genea GenoCare: genocare.com.au

    39 min
  4. Episode 15: Cystic Fibrosis Explained: Genetics, Treatment Advances & What Carrier Screening Really Means (with Prof John Massie)

    May 19

    Episode 15: Cystic Fibrosis Explained: Genetics, Treatment Advances & What Carrier Screening Really Means (with Prof John Massie)

    Cystic fibrosis (CF) is one of the most common inherited, life-shortening childhood conditions — but its story is changing. In this episode, Ali is joined by Professor John Massie, respiratory physician and CF specialist, to unpack what cystic fibrosis is, how it affects the body, and how advances in treatment are transforming outcomes for many people living with CF. Together, they explore: How CF is inherited and why carrier screening matters What day-to-day life with CF can look like, from infancy to adulthood The impact of modern CFTR modulator therapies and who can benefit Why newborn screening and reproductive carrier screening play different and complementary roles How families experience diagnosis, decision-making, and care pathways This conversation is designed for clinicians, prospective parents, and anyone seeking a clear and comprehensive explanation of cystic fibrosis in today’s clinical landscape.

    46 min

  5. May 7

    Episode 14: Supporting Mental Health Through Pregnancy, Genetic Testing & Uncertainty

    In this episode of the GenoCare Podcast, Ally sits down with clinical psychologist Frances Bilbao, founder of Mums Matter Psychology, to explore the emotional impact of pregnancy, perinatal mental health, and the growing complexity of genetic testing during pregnancy. The conversation dives into: Why pregnancy and early parenthood can be one of the most psychologically vulnerable periods in a person’s lifeHow unexpected genetic screening results can trigger anxiety, uncertainty and identity disruptionThe emotional toll of waiting for diagnostic answersThe role of mindfulness, self-compassion and acceptance-based therapiesThe impact on relationships and partnersWhy early psychological support matters — even before someone reaches “crisis point”Frances also shares practical strategies for coping with uncertainty, explains why many people feel detached or overwhelmed after difficult prenatal news, and highlights the importance of accessible, specialised perinatal mental health support. Frances explains how pregnancy and becoming a parent often represent a major identity shift and developmental transition — even for people who have never previously struggled with mental health. The episode explores the psychological impact of receiving unexpected screening results during pregnancy and how uncertainty can quickly spiral into anxiety and fear. Frances discusses practical psychological approaches, including: MindfulnessGrounding techniquesAcceptance and Commitment Therapy (ACT)Learning to observe anxious thoughts without becoming consumed by themThe discussion highlights how many parents judge themselves harshly during difficult pregnancies and why compassionate self-talk can significantly improve emotional resilience. The episode also examines how different coping styles between partners can either strengthen or strain relationships during pregnancy complications and uncertain genetic results. Frances explains why some people emotionally detach from a pregnancy after difficult results — and why this is often a protective psychological response rather than a failure of bonding. The conversation closes with practical advice for families and healthcare professionals about recognising distress early, seeking help proactively, and building wraparound support systems for patients navigating genetic testing and pregnancy-related uncertainty. Mums Matter PsychologyCentre of Perinatal Excellence (COPE)One of the strongest themes from this episode is that struggling emotionally during pregnancy complications or uncertain genetic testing is not weakness — it is often a very normal human response to uncertainty, threat and major life change. Early support can make a profound difference not just for parents, but for long-term family wellbeing. Key Topics CoveredWhy the Perinatal Period is So Emotionally IntenseThe Emotional Impact of Genetic Testing ResultsCoping With UncertaintyThe Role of Self-CompassionSupporting Couples Through StressAttachment, Detachment & Pregnancy Loss FearsWhy Early Support MattersResources MentionedKey Takeaway

    36 min
  6. Episode 13: Embedding Genomics Into Everyday Care — Part 2 with A/Prof Amy Nisselle

    Apr 28

    Episode 13: Embedding Genomics Into Everyday Care — Part 2 with A/Prof Amy Nisselle

    Episode Summary Genomics is ready. But are our health systems, clinical teams, and education frameworks ready to support it at scale? In this second episode with A/Prof Amy Nisselle, host Alison Archibald explores what it actually takes to embed genomics into routine clinical practice — from the evolving role of genetic counsellors to AI-powered tools that are changing the way patients and clinicians learn. Guest A/Prof Amy Nisselle is a genomics education, research, and evaluation expert across Murdoch Children's Research Institute, the University of Melbourne, and the University of Queensland. With over 20 years in the field, Amy is one of Australia's leading thinkers on translating genomic science into clinical practice. What We Cover The genetic counsellor as systems glue — Genetic counsellors aren't just patient-facing. They play critical roles as lab liaisons, result interpreters, educator-clinician bridges, and confidence builders for mainstream practitioners who need a trusted expert to call. The lab liaison role — A genetic counsellor embedded between the referring doctor and the laboratory can uplift poor referrals, triage test complexity, and ensure results are understood and acted on correctly. There aren't enough of them — but evidence shows they're highly cost-effective. The confidence ladder — Research shows doctors need to cross a confidence dip before genomics becomes routine. The solution isn't more lectures. It's foundational knowledge paired with real clinical exposure — workplace learning that makes genomics relevant right now, to this patient, today. Just start the conversation — A concept from SMA Australia advocate Julie Sini that resonated strongly with both Amy and Ali: GPs don't need to know everything. They just need to start the conversation and know who to call. That alone builds confidence over time. The clinician personas — Amy's PhD student Alice identified six types of mainstream clinician attitudes toward genomics: from the self-directed champion to the skeptical pragmatist. Understanding which type you're talking to changes how you design education entirely. AI in the genomics workflow — AI has a clear and growing role: summarising patient information, guiding decision-making through tools like Genetics Advisor, generating personalised education videos before consultations, and creating safe simulations for clinicians to practice genomic conversations. The key insight: AI handles the standardised content so humans can focus on the emotional and complex. What good genomic care looks like — Amy's answer is elegant: every clinician and every patient has the competence and confidence to engage with genomics as relevant to their role. Not uniform mastery — contextual capability. The rural GP who can order a test and know who to call. The patient who feels informed and comfortable with the choices they're making. Key Quote "Good genomic care is everyone being informed and making an informed decision — the clinician and the patient. I want them to have the competence and confidence to do genomics in the context relevant to them."

    37 min
  7. Episode 12: Mainstreaming Genomics Part 1

    Apr 27

    Episode 12: Mainstreaming Genomics Part 1

    Episode Summary Genomics is moving into mainstream healthcare — but only if the right people understand it. Not just geneticists, but GPs, nurses, medical specialists, allied health practitioners, and patients. In this episode, host Alison Archibald speaks with A/Prof Amy Nisselle about the science and art of genomics education — who needs it, how to design it well, and why it's one of the most powerful levers we have for improving access to genetic testing in Australia. This is Part 1 of a two-part conversation. Part 2 explores what it actually takes to embed genomics into healthcare systems. Guest A/Prof Amy Nisselle is a genomics education, research, development, and evaluation expert at Murdoch Children's Research Institute, The University of Melbourne, and The University of Queensland. With over 20 years in the field, Amy is one of Australia's leading thinkers on communicating genomics to diverse audiences. What We Cover The Babel fish of genomics — Amy's role is to sit between two disciplines and translate one for the other, helping scientists communicate to patients and clinicians communicate to families. Why genomics education is harder than it looks — Most education content asks readers to jump between the visible, the microscopic, and the symbolic without realising it. Understanding this framework is what separates education that lands from education that confuses. The step most people skip — Before creating any education, you need a needs assessment. Who is it for? What do they already know? How will they engage? Most well-meaning education in Australia has been created without this step. The logic model — Start with the goal, work backwards to the outcome, the required action, and the education that enables it. Always do an opportunity analysis first — what already exists that you can leverage? What mainstreaming genomics actually means — Getting the parts of genomic medicine that are practical and learnable into the hands of clinicians outside specialist genetics services. GPs can order an MRI without interpreting it. We're at the same point with genomics. The 17-year rule — Technology typically takes 17 years from bench to bedside. The genome was sequenced in 2000. By 2017 sequencing costs had dropped enough to make it clinically practical. NIPT and expanded carrier screening followed right on schedule. The confidence dip — A little genomics education actually drops clinicians' confidence before it builds it back. Understanding that changes how you design programs and support people through the transition. The workforce map — Genetic specialists in the bullseye, mainstream clinicians in the next ring, bioinformaticians and software developers in the outer ring. The trick isn't training the bullseye harder — it's bringing genomics out to the rings.

    30 min

  8. Apr 23 ·  Bonus

    BONUS episode - Ali on the The StrongHer side podcast

    Ali recently appeared on the the StongHer podcast, hosted by Hannah Gair. The podcast empowers, elevates, and unites mothers raising children with disabilities Exploring the raw, real, and often unspoken side of caregiving—identity loss, emotional burnout, invisible labor, daily challenges, and the fierce resilience it takes to rise through it all. Hosted by Hannah Gair, a mother, advocate, and advisor,  The StrongHER Side gives voice to the women behind the care plans, through expert interviews, solo deep dives, and the stories of other incredible mothers walking this journey. This isn’t just a podcast, it’s a lifeline, a transforming of the way mother's see themselves and their role, and creating ripple effects of hope, empowerment, and resilience across families worldwide Connect with the StrongHER Side: Instagram: https://www.instagram.com/strongherside/  Website: https://www.strongherside.com/ Podcast: https://stronghersidepodcast.podbean.com/

    37 min
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About

GenoCare is a podcast for clinicians, patients, and anyone navigating genetic and genomic care. Hosted by Dr Ali Archibald, the series explores how genomic testing is used in real clinical practice — and what happens beyond the test result. Through conversations with clinicians, researchers, and people with lived experience, the podcast covers reproductive and cancer genomics, psychosocial impacts of testing, and how health systems can better support patients and families. Produced by GenoCare Pty Ltd for education and general information.

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