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. 21h ago

    Episode 32: Supporting Fathers & Non‑Birthing Parents Through Unexpected Results in Pregnancy

    Unexpected news in pregnancy can be profoundly destabilising for families — but while the birthing parent is often the focus of care, fathers and non‑birthing partners also experience shock, fear, grief and uncertainty. In this episode, Ali is joined by psychologist Mathew Aquilina, Clinical Team Manager at the Gidget Foundation, to explore the emotional experiences of partners during pregnancy, birth, loss and early parenthood, and how clinicians can better support the whole family system. Drawing on his clinical work and lived experience as a parent, Mathew discusses the pressures partners face to “stay strong,” the information‑seeking behaviours that often mask distress, and the unique challenges that arise when families receive complex genetic results or experience loss. In this episode: What partners experience during pregnancy and early parenthood How unexpected results impact fathers and non‑birthing parents Information‑seeking as a coping strategy Supporting partners through grief, loss and decision‑making How clinicians can better include partners A message for fathers and non‑birthing parents: Your wellbeing matters. You don’t need a crisis to seek support. You are part of this story and you deserve care too. Key message: Partners experience pregnancy, uncertainty and loss in their own way — and their wellbeing is central to family functioning. Thoughtful, inclusive care helps both parents feel supported, informed and empowered during complex reproductive experiences. Additional resources: Gidget Foundation Australia — perinatal mental health support: https://www.gidgetfoundation.org.au/ PANDA — perinatal anxiety & depression support: https://www.panda.org.au/  MensLine Australia — counselling for men: https://mensline.org.au/  This episode is valuable for: Psychologists, genetic counsellors, midwives, obstetricians, GPs, perinatal mental health clinicians, fertility specialists, social workers, and families navigating unexpected results, grief or complex reproductive decision‑making. Referring a patient? GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity and genetic services. Email hello@genocare.com.au or visit: www.genocare.com.au/contact

  2. 6d ago

    Episode 31: Chromosome Testing of Embryos in IVF - Understanding PGT-A

    In this episode, Ali is joined by senior genetic counsellor Tamara Mossfield to unpack preimplantation genetic testing for aneuploidy (PGT-A) — a type of embryo testing used during IVF to look for differences in chromosome number. This is the third episode in a series on genetic testing in IVF. Tamara explains what PGT-A is, how testing is performed, what the different results can mean, and why deciding whether to have PGT-A is not always straightforward. Drawing on her extensive experience supporting people through IVF, Tamara explores why PGT-A is optional, why recommendations can differ between clinicians, and how factors such as maternal age, recurrent pregnancy loss and repeated implantation failure may influence discussions about testing. The conversation also explores one of the more complex areas of PGT-A: mosaic results. Tamara explains the biology behind mosaicism, what a mosaic result may mean, and how patients and their clinical teams navigate decisions about which embryos to consider for transfer. In this episode: What PGT-A is and what it looks forHow PGT-A is performed during IVFWhy PGT-A is optional and why recommendations can varyFactors that may influence whether PGT-A is consideredHow people decide whether testing is right for themThe benefits and limitations of PGT-AUnderstanding failed, euploid, aneuploid and mosaic resultsWhat mosaicism means and why these results can be complexHow PGT-A results may influence decisions about embryo transferNavigating uncertainty and the emotional and ethical considerations involved in embryo selectionKey message PGT-A can provide information about the chromosome complement of an embryo, but it does not provide certainty about the outcome of an embryo transfer or pregnancy. Understanding what the test can and cannot tell you, and having appropriate support to interpret the results, is an important part of informed decision-making. This episode is valuable for: People considering or undergoing IVF and PGT-A, as well as fertility specialists, embryologists, genetic counsellors, IVF nurses, GPs, midwives and other healthcare professionals supporting people through fertility treatment. Other relevant episodes: Episode 4:Pre-implantation genetic testing (PGT-M): what clinicians and patients need to know https://open.spotify.com/episode/5VerEM5kIXpivhuvMke0Ux?si=P5WfF7eMTEiTBjAKSRmHAw Episode 16: Genetics in the IVF setting https://open.spotify.com/episode/4Rpc0ITs6x18L7lVmE7y5D?si=4dda2d755a0b4d18 Referring to GenoCare? GenoCare provides genetic counselling and perinatal counselling before, during and after pregnancy, working alongside existing fertility, maternity and genetic services. hello@genocare.com.au | www.genocare.com.au/contact

  3. Sep 22

    Episode 30: Motor Neuron Disease and Genetics - Why Genetic Testing Now Really Matters

    What do we now know about the genetics of motor neuron disease (MND), and why is genetic testing becoming an increasingly important part of MND care? In this episode, Ali is joined by genetic counsellor Nikki Gelfand, who specialises in MND genetics. With new research, updated clinical guidelines and emerging gene-targeted therapies changing the landscape of MND care, Nikki explains what clinicians, people with MND and their families need to know about genetics and genetic testing. What is MND?MND describes a group of neurological conditions that progressively damage motor neurons — the nerve cells responsible for movement, speech, swallowing and breathing. What causes MND?There is still much we don't understand about why MND develops. Nikki explains what we know about the contribution of genetic and environmental factors, and why the absence of a family history does not necessarily mean genetics isn't relevant. Why is genetic testing now being offered to everyone diagnosed with MND?Historically, genetic testing was largely offered to people with MND who had a strong family history. This is changing. Updated guidelines recommend that genetic testing be offered to all people diagnosed with MND, reflecting our growing understanding of its genetic causes and the increasing relevance of genetic information to treatment and care. What can a genetic result mean for families?A genetic diagnosis can have implications beyond the person with MND. Nikki discusses what results may mean for relatives, the questions they can raise about genetic testing, and the important role of genetic counselling in helping families navigate this information. Building an MND genetics service at MonashNikki shares how she helped establish a dedicated MND genetics clinic, funded by MND Victoria and developed in response to an urgent need for access to genetic counselling and testing. The future of MND geneticsWe look at how gene-targeted therapies are changing the significance of genetic testing in MND and what developments in research and clinical care could mean for people with MND and their families. Genetics is becoming increasingly central to MND care. Genetic testing can help explain why MND has developed, provide important information for families, inform treatment and potentially provide access to emerging gene-targeted therapies. But genetic information can also bring uncertainty and difficult decisions, making access to clear information, genetic counselling and psychosocial support essential. MND Australia — support, information and state associationshttps://www.mndaustralia.org.au/ FightMND — research, advocacy and fundraisinghttps://fightmnd.org.au/ This episode will be particularly useful for people with MND and their families, neurologists, genetic counsellors, nurses, allied health professionals, MND support organisations and researchers wanting to better understand the rapidly evolving role of genetics in MND care. GenoCare provides genetic counselling and support for individuals and families navigating genetic testing and genetic diagnoses. Email hello@genocare.com.au or visit www.genocare.com.au/contact

  4. Sep 14

    Episode 33: Pregnancy Loss and Genetics - Understanding, Support and System Change with With Samantha Payne, Co‑Founder & CEO of Pink Elephant

    In this episode, Ali is joined by Samntha Payne, co‑founder and CEO of Pink Elephants, Australia’s leading organisation supporting people through early pregnancy loss. Sam shares her personal journey, the evolution of Pink Elephants, and the systemic, cultural and clinical changes urgently needed to better support women, partners and families experiencing miscarriage.   Together, Ali and Sam explore the psychosocial impacts of early pregnancy loss, the role of language, the gaps in current care pathways, and how genetics intersects with miscarriage — from NIPT misunderstandings to the need for accessible carrier screening and chromosome analysis.   This is a powerful, honest and deeply important conversation for clinicians, advocates and anyone navigating pregnancy loss.   In this episode: What Pink Elephants does Why early pregnancy loss is so isolating Key psychosocial considerations What health professionals can do, today The Pink Elephants Care Standards, built from a decade of community feedback: Validation  Empathy  Connection  The role of genetics in pregnancy loss How genetics intersects with miscarriage NIPT misunderstandings   Carrier screening  Chromosome analysis (karyotype)  System gaps  Why systems change is essential   Key message: Pregnancy loss is common, significant and deserving of compassionate, validated, connected care. Genetics can play a crucial role in understanding miscarriage — but only when paired with clear communication, timely counselling and equitable access to testing. Additional resources: Pink Elephants: https://www.pinkelephants.org.au/ PANDA — perinatal anxiety & depression support: https://www.panda.org.au/    This episode is valuable for: GPs, obstetricians, midwives, genetic counsellors, sonographers, fertility specialists, mental health clinicians, policy makers, and anyone supporting individuals or couples through pregnancy loss or unexpected results.   Referring a patient to GenoCare GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity, fertility and genetic services.   hello@genocare.com.au | www.genocare.com.au/contact

  5. Sep 7

    Episode 29: Sickle Cell Disease - Genetics, Screening, Treatment and Advocacy with Agnes Nsofwa

    In this episode, host A/Prof Ali Archibald is joined by Agnes Nsofwa, Co-Founder and Executive Director of the Australian Sickle Cell Advocacy Association, to explore sickle cell disease, its genetics, diagnosis and treatment, and the importance of advocacy and support for people living with the condition. Drawing on her experience as both an advocate and a mother of a daughter with sickle cell disease, Agnes shares her family’s journey from diagnosis through to bone marrow transplantation, and the work her organisation has led to improve awareness, support and newborn screening for sickle cell disease in Australia. In this episode: What sickle cell disease is and how it affects the bodySickle cell trait versus sickle cell diseaseHow sickle cell disease is inherited and what this means for familiesCurrent treatments, including hydroxyurea, blood transfusions and bone marrow transplantationCarrier screening and the importance of knowing your sickle cell statusThe introduction of newborn screening for sickle cell disease in AustraliaWhy ethnicity doesn’t always reflect genetic ancestry — and what this can mean for offering screeningEmerging gene therapies and the challenges of making these treatments accessibleThe key message: Greater awareness, earlier diagnosis and access to screening and support can make an enormous difference for people and families affected by sickle cell disease. Additional resources: Australian Sickle Cell Advocacy organisation: Australian Sickle Cell Advocacy Summit – 11 September 2026: This year’s online summit will bring together patients, families, healthcare professionals, researchers and policymakers to discuss curative therapies, including gene therapy, and their future availability in Australia. Register for the summit: https://events.humanitix.com/asca-5th-sickle-cell-conference This episode is valuable for people and families affected by sickle cell disease, as well as GPs, obstetricians, midwives, genetic counsellors and other healthcare professionals wanting to better understand sickle cell disease, carrier screening and the changing landscape of diagnosis and treatment. Referring a patient? GenoCare provides genetic and perinatal counselling before, during and after pregnancy. Email hello@genocare.com.au or visit www.genocare.com.au/contact

  6. Aug 31

    Episode 28: How does genetics influence mental illness? Psychiatric genetic counselling with Jo Isbister-Smith

    In this episode, host Ali  speaks with Jo Isbister-Smith, clinical genetic counsellor at Australia’s first dedicated mental health genetics service, to explore the emerging field of psychiatric genetic counselling — why it’s needed, what it offers, and how genetics and environment interact in shaping mental health. This conversation offers clarity, reassurance and practical insight for individuals, families and clinicians navigating mental illness and family history.   In this episode: What psychiatric genetic counselling is Why people seek this support Genetics + environment: a complex interplay When genetic testing is relevant Pharmacogenomics in mental health The emotional impact of mental illness Building Australia's first mental health genetics service   The key message: Genetics plays a role in mental illness — but it is not destiny. Understanding the interplay between genes and environment helps people feel informed, empowered and supported.   Additional resources: International Society of Psychiatric Genetics website: https://ispg.net/ Cardiff University online education and training for psychiatric genomics: https://www.cardiff.ac.uk/centre-neuropsychiatric-genetics-genomics Monash Health psychiatric genetics service: https://monashhealth.org/news/australias-first-embedded-psychiatric-genetics-service-is-quietly-changing-lives-at-monash-health/   This episode is valuable for psychiatrists, psychologists, GPs, mental health nurses, social workers, paediatricians, genetic counsellors, and anyone wanting to better understand the role of genetics in mental illness and how counselling can support individuals and families.   Referring a patient? GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity and genetic services.   Email hello@genocare.com.au or visit: www.genocare.com.au/contact

  7. Aug 27

    Episode 27: Choosing a Non-Invasive Prenatal Screen - Understanding the Options with Ali and Alice Poulton

    What type of NIPT do I choose? In this episode, host Ali is joined again by Alice Poulton, genetic counsellor and researcher, to unpack one of the most confusing aspects of prenatal screening: the fact that not all NIPTs are the same. Building on earlier episodes that covered how NIPT works and how labs process samples, this conversation dives into the variation between NIPT options, what is screened, and what patients and clinicians need to know before choosing a test.   In this episode: The two main types of NIPT - genome wide NIPT and targeted NIPT Why the differences in types of NIPT matter Rare autosomal trisomies and what happens when if someone receives an increased chance result Microdeletions and microduplication panels and NIPT performance Triploidy and SNP-based NIPT How can patients and practitioners choose between tests   The key message: Not all tests are the same. Understanding what an NIPT can and cannot detect is essential for informed decision‑making for both patients and clinicians.   Additional resources: Prenatal screening web resource: https://prenatalscreening.org.au/  Prenatal screening decision aid: https://yourchoice.mcri.edu.au/ Centre for Genetics Education, factsheet on NIPT: https://www.genetics.edu.au/SitePages/Non-invasive-prenatal-testing.aspx    This episode is the third instalment of our NIPT series and is valuable for GPs, obstetricians, midwives, sonographers, fertility clinicians and nurses, as well as expectant parents wanting to get a better understanding on the differences in NIPT tests and which one they should choose.   Referring a patient? GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity and genetic services. Email hello@genocare.com.au or visit www.genocare.com.au/contact

  8. Aug 21

    Episode 26: Implementing AI Scribe Technology in a Public Hospital: What Actually Changed?

    Letters at Queensland Children's Hospital took an average of eight days to finalise. After the AI scribe rollout, 14 minutes. That is the headline. Another interesting finding is that the expected business case — overtime savings — did not materialise, because clinicians were already doing the extra hours without claiming them. The burden was real. It had simply never appeared in a budget. In this week's episode, Ali is joined by Pauline McGrath, Principal Genetic Counsellor at Children's Health Queensland, on designing, funding, researching and living with an ambient documentation tool in a quaternary hospital. It began with a 200-word application to the hospital's Chief Executive Imagination Fund, written on the day it was due. What this episode covers: • What the research showed — letters finalised in minutes rather than days, 10% more documentation at lower cost, and clinicians leaving work on time with their clinical notes complete • The governance rule that made it safe — notes expired from the vendor's server after seven days, forcing documentation into the medical record while still contemporaneous • The real adoption barrier — not accuracy, but clinicians who felt the output did not sound like them • What patients said — and what changed when clinicians stopped typing and started making eye contact • The open question — if novice clinicians no longer write the notes, what happens to how they learn? Why this matters Administrative burden is a documented risk factor for burnout in genetic counselling, and ours is a small workforce that cannot afford to lose people to it. But Pauline's more important point is about who decides. Digital tools are usually handed down to clinicians. This one was designed by them, with executive backing and explicit permission to fail — and the result was clinicians asking for access rather than resisting it. If we want these tools to fit clinical care, the profession needs to be in the driver's seat while the choices are still open. This episode is relevant for genetic counsellors and clinical geneticists, genetics service managers, hospital digital teams, clinicians evaluating AI scribes, and anyone who will have to make the business case to an executive.

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.

You Might Also Like