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 [email protected] or visit www.genocare.com.au/contact

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 [email protected] or visit www.genocare.com.au/contact

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 [email protected] or visit: www.genocare.com.au/contact

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 [email protected] or visit www.genocare.com.au/contact

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.

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.

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 [email protected] or visit www.genocare.com.au/contact.

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.

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.

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: [email protected] or www.genocare.com.au/contact

Hosts: A/Prof Alison Archibald and Sam Holt