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. 5 days ago

    Episode 35: Understanding Karyotypes - Why Chromosome Testing Matters for Reproductive Planning

    What is a karyotype, and why might chromosome testing be recommended when planning a pregnancy, investigating fertility challenges or following pregnancy loss? In this episode of the GenoCare Podcast, Ali is joined by Hazel Robson, Genetic Counsellor at Number One Fertility, to explore the role of chromosome analysis in reproductive planning. Together, they unpack what a karyotype can tell us, when testing might be helpful, and how chromosome variations, such as balanced translocations, can affect fertility and pregnancy outcomes. They also discuss why the timing of testing matters and how genetic counselling can support people to understand their results and explore their reproductive options. In this episode, we cover: What a karyotype is and how testing works When and why chromosome testing may be recommended Balanced translocations and their reproductive implications How results can inform IVF, pregnancy care and reproductive decisions The importance of early testing and genetic counselling What karyotype testing can't tell us Whether you're planning a pregnancy, navigating fertility treatment, have experienced pregnancy loss, or work in reproductive healthcare, this episode offers an accessible introduction to chromosome testing and its role in informed reproductive decision-making. About GenoCare GenoCare provides genetic and perinatal counselling before, during and after pregnancy, helping people access genetic information and support when they need it. www.genocare.com.au hello@genocare.com.au This podcast provides general educational information and is not a substitute for personalised medical advice.

  2. 20 Oct

    Episode 34: Screening for haemoglobinopathies explained - Thalassaemia, Sickle Cell Disease and How Screening Works

    Haemoglobinopathies are among the most common inherited genetic conditions worldwide, yet many people have never heard of them until they are planning a pregnancy or already pregnant. In this episode, Ali is joined by genetic counsellors Fiona Cunningham and Sachini Poogoda to explore haemoglobinopathies, including thalassaemia and sickle cell disease, and explain why screening is an important part of reproductive healthcare. Together, they discuss how haemoglobinopathy screening works, what it means to be a carrier, and why screening should be offered to everyone planning a pregnancy or already pregnant, regardless of their genetic ancestry. They also explore what happens when both reproductive partners are carriers, the role of genetic counselling and reproductive options available to people with an increased chance of having children with a haemoglobinopathy. What haemoglobinopathies are, including thalassaemia and sickle cell disease Why screening is important to consider before or during pregnancy How haemoglobinopathy screening works Why screening can be offered regardless of genetic ancestry What it means to be a carrier of a haemoglobinopathy What happens when both partners are carriers Treatment options for people affected by haemoglobinopathies Haemoglobinopathy screening should be offered to anyone planning a pregnancy or already pregnant, regardless of their genetic ancestry. Identifying carriers early allows individuals and couples to better understand their reproductive chance for these conditions, access genetic counselling and make informed decisions about their pregnancy and future family planning. This episode is relevant to GPs, midwives, obstetricians, fertility specialists, genetic counsellors, haematology clinicians and anyone planning a pregnancy or currently pregnant. GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity, fertility and genetic services. Contact: hello@genocare.com.au Website: www.genocare.com.au/contact

  3. 11 Oct

    Episode 33: Pregnancy Loss and Genetics - Understanding, Support and System Change with Samantha Payne CEO of Pink Elephants

    In this episode, Ali is joined by Samantha 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

  4. 5 Oct

    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

  5. 28 Sept

    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

  6. 22 Sept

    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

  7. 14 Sept

    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

  8. 7 Sept

    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

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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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