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 25 episodes on record and a Required Pod Score of 80. PitchCentric scores this show on Booking Probability, Listen Score, and live audience signals refreshed every 24 hours.

Dr Ali Archibald hosts GenoCare— with Dr Ali Archibald & friends, a health show with 25 episodes published.

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  Episode #22

  Rethinking Donor Carrier Screening: with Ali and Katherine Rose

  Aug 19, 202638 minS1

  Guest: Katherine Rose, Genetic Counselling Manager, Newlife IVF Host: A/Prof Alison Archibald Test enough genes and everyone is a carrier for something. In over 90% of reproductive couples screened for more than 1000 genes, at least one partner has a carrier result. That is manageable using a couple-based screening approach. In a donor program, where a genetic counsellor must match one donor's report against one recipient's report, often from different labs and different panels, it becomes a clinical risk. Katherine Rose rebuilt that process at Newlife IVF. She explains why the clinic moved from individual carrier reports to couples-based reproductive carrier screening across more than 1,000 genes, and what changed for donors, recipients and the genetic counselling team. In this episode: Who uses donor conception. Identity-release donors versus known donors, and local versus international programmes. The full donor workup: G-banded karyotype, haemoglobinopathy screening, an extended medical and family history questionnaire, and carrier screening. Why individual carrier screening reports caused problems. Recipients avoided donors who carried more conditions. Panels could not be compared. Pre-test counselling took too long. How the couples-based model works. The donor's de-identified sample is held at the lab and run alongside the recipient's sample when a donor is selected. What happens with an increased-chance result. The recipient selects a different donor and the lab re-analyses the sample at no extra cost, with no repeat test and no second wait. Why egg donors still need a preliminary X-linked screen before recruitment. Two messages for clinicians without a genetics background: a low-chance result is not no risk, and no panel tests for everything. The case for a national carrier screening program, and why "one gene list, please" is the clearest request clinicians have made. Worth your time if you work in fertility, reproductive genetics, obstetrics or general practice, or if you are considering donor conception and want to understand what screening can and cannot tell you. The GenoCare Podcast covers the practical design of genomic care: clinical decisions, workflows, and what it takes to deliver at scale.

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  GenoCare— with Dr Ali Archibald & friends

  Behind the Scenes of NIPT: How It Works in the Laboratory

  Jul 31, 202647 min

  Ever wondered what actually happens to a blood sample after it's taken for NIPT? In this episode of the GenoCare Podcast, Ali is joined by Nicola Flowers, clinical scientist and group leader for NIPT at Victorian Clinical Genetic Services (VCGS), for a behind-the-scenes look at how non-invasive prenatal testing works inside the laboratory. Nicola has spent more than a decade immersed in NIPT. She walks us through the full journey of a sample — from collection and plasma separation, through DNA sequencing and bioinformatics, to the result that reaches your patient — unpacking the science, the quality controls, and the reasons results are reported the way they are. In this episode: What a clinical scientist does, and how NIPT is performed in the lab Cell-free DNA — what it is, and why it's placental rather than fetal DNA The journey of a sample: sequencing, bioinformatics and quality control Fetal fraction — what it is and why it matters Low chance, "no result" and increased chance results, and what causes test failures Why performance varies by condition, and what positive predictive value (PPV) really means Choosing between CVS and amniocentesis, and the role of confined placental mosaicism How incidental findings, including rare maternal health findings, can surface through screening A key message: a great deal of careful science sits behind every NIPT result — but it remains a screening test. A low-chance result lowers, rather than removes, the chance of a condition. Understanding both the strengths and the limits of testing supports informed decisions and can ease anxiety when unexpected results arise. This episode continues our special series on NIPT and is valuable for GPs, obstetricians, midwives, sonographers, fertility clinicians and nurses, as well as expectant parents wanting a clearer understanding of what happens after their blood sample is taken. Referring a patient? GenoCare provides genetic and perinatal counselling before, during and after pregnancy, working alongside existing maternity and genetics services. Email hello@genocare.com.au or visit www.genocare.com.au/contact .

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  GenoCare— with Dr Ali Archibald & friends

  Living with Fragile X-Associated Primary Ovarian Insufficiency with Karen Lipworth

  Jul 21, 202642 min

  Living with Fragile X-Associated Primary Ovarian Insufficiency Guest: Karen Lipworth At work, mid-way through the day, Karen Lipworth took a phone call telling her she'd gone through menopause — in her 30s. No warning, no support in the room, and no explanation of why . It would take a third fertility specialist, and years of wondering whether she was imagining it, before anyone finally tested her for Fragile X. In this episode, Ali sits down with Karen to trace a journey many people affected by genetic conditions will recognise: the long road to diagnosis, the tangle of grief and relief that comes with finally having an answer, and the reproductive decisions that followed. Karen shares her experience of Fragile X-associated primary ovarian insufficiency (FXPOI) with honesty, warmth and hard-won wisdom — and makes a compelling case for why this testing has to happen earlier. Karen Lipworth is a lived-experience advocate and former board member of the Fragile X Association of Australia, where she served for around six years. Since her own diagnosis, she has become a passionate educator, speaking with GPs, fertility specialists and families so that fewer people receive life-changing news the way she did. The road to diagnosis — why it took multiple specialists and years of self-doubt before fragile X made it onto the list, and why difficulty conceiving should always prompt it. Understanding the premutation — Ali walks through the FMR1 repeat ranges (grey zone, premutation, full mutation) and why this is a spectrum, not a yes/no. FXPOI affects an estimated 20% of women who carry the premutation. The family ripple — how a single result impacts an entire family tree, the role of cascade testing, and the emotional load of carrying that information to relatives. Reproductive choices — Karen's path to motherhood through egg donation (16 embryos over seven years), and how knowing her carrier status changed her decisions early. Psychosocial impact — the idea of a "reproductive story", why a result like this is a genuine risk factor for mental health, and what good support actually looks like — from the right psychologist to peer connection. What needs to change — why GPs don't need to be genetics experts; they need to recognise who to test, how to refer, and how to deliver hard news with care. This is a personal conversation that touches on infertility, pregnancy loss, termination, early menopause and emotional distress. Please listen when you feel ready. GenoCare combines expert clinical support with innovative digital tools to make genetic information, testing and care more accessible — helping more people make informed decisions about their health with confidence.

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  GenoCare— with Dr Ali Archibald & friends

  Understanding NIPT – what every clinician and expectant parent should know with Alice Poulton

  Jul 13, 202637 min

  Advances in prenatal screening have fundamentally changed pregnancy care. As access to NIPT continues to grow, ensuring patients and healthcare professionals understand its strengths, limitations and appropriate use has never been more important. In the latest episode of the GenoCare Podcast, Ali is joined by Melbourne-based genetic counsellor Alice Poulton to provide a practical overview of NIPT and the role it plays in pregnancy care. This episode is the first in a special series on NIPT. We start with the fundamentals before exploring more complex topics in future episodes, including unexpected results, the biological reasons behind them, and the clinical and psychosocial challenges they can present. Whether you're a clinician discussing testing with patients, someone working alongside maternity services, or you're navigating pregnancy yourself, this episode aims to build confidence in understanding the test, interpreting results, and supporting informed decision-making. In this episode, we discuss: What NIPT is and how it works What conditions NIPT screens for—and what it does not detect Why NIPT is a screening test rather than a diagnostic test The differences between targeted and genome-wide NIPT Understanding low chance, increased chance and "no-call" results The role of ultrasound alongside NIPT Why follow-up diagnostic testing is recommended The emotional impact of unexpected screening results and how healthcare professionals can better support patients during periods of uncertainty One of the key messages from this episode is that NIPT is an excellent screening tool, but no single test can provide complete reassurance or answer every question about a pregnancy. Helping people understand both the strengths and the limitations of testing is essential for informed decision-making and can reduce unnecessary anxiety when unexpected results arise. This episode will be particularly valuable for expectant parents wanting a clear explanation of NIPT as well as GPs, Obstetricians, Midwives, Sonographers, Fertility clinicians, Nurses and other healthcare professionals involved in maternity care.

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  Episode #20

  Result workflows using a Digital Genetic Assistant

  Jun 29, 202633 minS1

  After the Test: Managing Genomic Results at Scale Most of the genomics conversation is about the science — the sequencing, the panels, the conditions. But once a result lands, a different problem takes over: the manual, repeatable workflow wrapped around every report. Opening PDFs, classifying results, drafting cover notes and patient letters, chasing partner testing, fielding "have my results come back yet?" calls. In this episode — the second in our series on digitising the genetic testing journey — Ali is joined by GenoCare Co-Founder Sam Holt to explore how digital tools can take the grind out of results management. The goal isn't to replace genetic counsellors. It's to hand the repeatable admin to a "digital genetic assistant" so clinical teams can spend their time on the conversations that genuinely need a human. The outcome: faster patient turnaround, less burnout for practitioners, and the capacity to absorb an exponentially growing demand curve. What we cover The overnight digital genetic assistant: monitoring the laboratory information management system, reading and classifying reports, and pre-preparing cover notes, so a chunk of the work is done before you arrive at work Why ~98% of carrier screening results come back "low chance" — and how automating those frees clinical time for the 2% that need our full attention Working to your existing SOPs ("if this, then that"), with human oversight throughout — nothing reaches a patient without approval Automating the admin around failed tests and sample recollects Patient appointment scheduling by email, SMS and automated phone bot Personalised patient results videos patients can rewatch and share — and why the largest US lab now uses them even for increased-chance results, with referrers in the loop Real-time practitioner education: sharing results videos with referrers to bring them up to speed on managing genomic results A trained, "fenced" Q&A so patients can ask the questions they think of the next day — instead of pasting their report into ChatGPT Cascade and family education resources to support relatives accessing testing Reducing confusion when patients view their results on My Health Record before a consultation The potential to issue low-chance results directly to patients — and how this has been well received in research settings Why genetic counsellors are becoming the change agents driving adoption A note on safeguards Nothing in this conversation suggests moving away from human consultation to manage actionable results. That core conversation stays with a person. Everything else — the triage, the correspondence, the follow-up, the education — is where digital tools complement and extend the care already being provided. Who this is for Genetic counsellors, lab and pathology teams managing results workflows, clinicians delivering results across reproductive, cancer and primary care, and anyone thinking about how to scale genomics responsibly. About GenoCare GenoCare holds the exclusive APAC licence for a genomic workflow automation platform already used at scale by some of the highest-volume labs and hospital systems in the US. Our thesis is simple: genomics is ready — the admin isn't. We're digitising the workflow wrapped around every test so more people can access genetic testing, sooner. Links Platform demos in the episode description Referrals: hello@genocare.com.au or www.genocare.com.au/contact Hosts: A/Prof Alison Archibald and Sam Holt

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