GenoCare— with Dr Ali Archibald & friends

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.

GenoCare— with Dr Ali Archibald & friends is a health podcast hosted by Dr Ali Archibald, with 31 episodes on record and a Required Pod Score of 80.

Dr Ali Archibald hosts GenoCare— with Dr Ali Archibald & friends, a health show with 31 episodes published.

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  GenoCare— with Dr Ali Archibald & friends

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

  Sep 28, 202641 min

  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 for How PGT-A is performed during IVF Why PGT-A is optional and why recommendations can vary Factors that may influence whether PGT-A is considered How people decide whether testing is right for them The benefits and limitations of PGT-A Understanding failed, euploid, aneuploid and mosaic results What mosaicism means and why these results can be complex How PGT-A results may influence decisions about embryo transfer Navigating uncertainty and the emotional and ethical considerations involved in embryo selection Key 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

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  GenoCare— with Dr Ali Archibald & friends

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

  Sep 22, 202641 min

  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 Monash Nikki 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 genetics We 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 associations https://www.mndaustralia.org.au/ FightMND — research, advocacy and fundraising https://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

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  GenoCare— with Dr Ali Archibald & friends

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

  Sep 7, 202648 min

  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 body Sickle cell trait versus sickle cell disease How sickle cell disease is inherited and what this means for families Current treatments, including hydroxyurea, blood transfusions and bone marrow transplantation Carrier screening and the importance of knowing your sickle cell status The introduction of newborn screening for sickle cell disease in Australia Why ethnicity doesn’t always reflect genetic ancestry — and what this can mean for offering screening Emerging gene therapies and the challenges of making these treatments accessible The 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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  GenoCare— with Dr Ali Archibald & friends

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

  Aug 31, 202636 min

  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

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  GenoCare— with Dr Ali Archibald & friends

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

  Aug 26, 202631 min

  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

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