GenoCare— with Dr Ali Archibald & friends

Dr Ali Archibald
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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. 10h ago

    Rethinking Donor Carrier Screening: with Ali and Katherine Rose

    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.

  2. Jul 31

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

    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 labCell-free DNA — what it is, and why it's placental rather than fetal DNAThe journey of a sample: sequencing, bioinformatics and quality controlFetal fraction — what it is and why it mattersLow chance, "no result" and increased chance results, and what causes test failuresWhy performance varies by condition, and what positive predictive value (PPV) really meansChoosing between CVS and amniocentesis, and the role of confined placental mosaicismHow incidental findings, including rare maternal health findings, can surface through screeningA 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.

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

  3. Jul 21

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

    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.

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

  4. Jul 14

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

    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.

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

  5. Jun 29

    Result workflows using a Digital Genetic Assistant

    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 workWhy ~98% of carrier screening results come back "low chance" — and how automating those frees clinical time for the 2% that need our full attentionWorking to your existing SOPs ("if this, then that"), with human oversight throughout — nothing reaches a patient without approvalAutomating the admin around failed tests and sample recollectsPatient appointment scheduling by email, SMS and automated phone botPersonalised 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 loopReal-time practitioner education: sharing results videos with referrers to bring them up to speed on managing genomic resultsA trained, "fenced" Q&A so patients can ask the questions they think of the next day — instead of pasting their report into ChatGPTCascade and family education resources to support relatives accessing testingReducing confusion when patients view their results on My Health Record before a consultationThe potential to issue low-chance results directly to patients — and how this has been well received in research settingsWhy genetic counsellors are becoming the change agents driving adoptionA 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 descriptionReferrals: hello@genocare.com.au or www.genocare.com.au/contactHosts: A/Prof Alison Archibald and Sam Holt

    Result workflows using a Digital Genetic Assistant

  6. Jun 22

    Your Digital Genetic Assistant

    Genetic testing doesn't have a science problem. It doesn't have a reimbursement problem. And it definitely doesn't have a demand problem. Workforce and workflow issues continue to impede access. How can technology help? Ali sits down with GenoCare co-founder Sam Holt to unpack everything that happens before a test is ordered — intake, family history, education and informed consent. It's the messiest, most manual part of the journey, and it's exactly where digital tools can unlock the demand the system already can't service. "Genomics isn't a science problem anymore — it's an operations problem." In this episode: Why the pre-test phase is the highest-leverage place to deploy digital toolsThe platform GenoCare is bringing to Australia under exclusive licence — already used at scale by US labs and major US and Israeli hospital systemsWhat a "digital genetic assistant" is, and what it isn't (it doesn't replace genetic counsellors or admin staff)Scalable, consistent digital consent: one repeatable process across every test, with a timestamped record for the clinician, patient and labThe 15–20%+ Medicare rejection rate on carrier screening samples — and why better consent fixes itThe "uncanny valley" of waiting weeks for a result, and giving patients a home base instead of a call to the labWhy patients arrive at increased-chance results unprepared, and how robust education changes how those results land (the Mackenzie's Mission experience)Automating family history capture: real-time pedigree drawing, summary notes, and the three days a year lost just scanning family treesThe published US evidence: 85% efficiency gains, and 45 minutes of admin condensed to fiveReducing genetic counsellor burnout by giving the time back to patientsThe throughline: this isn't about replacing people. It's about shorter waitlists, a better patient experience, healthier margins for private labs, and letting genetic counsellors do the work they trained for — patients, not paperwork. Watch the demos: Digital Genetic Assistant — family intake: click hereInformed consent and education workflow: click hereNext episode: we move to the other end of the journey — the result-delivery process, and how digital tools can help there. GenoCare brings the world's leading genomic workflow automation platform to Australia under an exclusive licence, automating pre- and post-test clinical workflows so genetic counsellors can spend their time on patients, not paperwork.

    Your Digital Genetic Assistant

  7. Jun 10

    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.

    Reproductive Carrier Screening After a Genetic Diagnosis, with Giorgina Maxwell

  8. 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

    Genetic discrimination - barriers to genomic testing and research participation
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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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