Fragile X syndrome is one of the most common inherited causes of intellectual disability — yet it’s also one of the most complex genetic conditions to understand.

In this episode, Associate Professor Ali Archibald explains Fragile X in clear, practical terms, unpacking how the condition is inherited, what carrier screening looks for, and why results can vary so widely between individuals and families.

The conversation covers:

• What Fragile X syndrome is and how it affects development

• The difference between being a carrier and having the condition

• CGG repeat numbers, premutations, and why “risk” is not one-size-fits-all

• The role of AGG interrupts in refining risk assessment

• Why Fragile X carrier results require specialist genetic counselling

• How clinicians help people move from a result to informed next steps

This episode highlights why Fragile X screening sits outside routine primary care conversations, and why time, expertise, and careful explanation are essential for people to feel informed rather than overwhelmed.

This episode is relevant for clinicians, prospective parents, and anyone navigating reproductive carrier screening or Fragile X results.

In this episode, Ali speaks with Emma, a Credentialed Perinatal Mental Health Nurse at GenoCare, about the emotional and psychological impact of genetic testing during pregnancy — and where mental health nursing can fit alongside genetic counselling.

Emma shares her background in midwifery and perinatal mental health, and explains why genetic test results can feel destabilising, particularly for people encountering their first major challenge on the path to parenthood. Together, they explore how mental health nurses provide a safe, informed space to process anxiety, grief, trauma, and uncertainty — without patients needing to repeatedly explain their genetic results.

The conversation covers trauma-informed care, perinatal mental health, coping strategies, and why ongoing psychosocial support can be critical as genetic information ripples through families over time.

This episode is relevant for clinicians, patients, and families navigating reproductive genetic testing or supporting others through complex results.

We flip the script in this episode with Ali interviewed by Emma, GenoCare Perinatal Mental Health Nurse. Emma and Ali discuss why GenoCare was created and how genetic care in Australia is evolving.

Ali explains what genetic counsellors do, how access to genetic testing has expanded rapidly, and why support pathways haven’t kept pace. We discuss the growing gap between demand for genetic information and the availability of specialist services, particularly in reproductive and cancer genetics.

This conversation also explores why genetic results can have long-lasting emotional and family impacts, and how GenoCare brings together genetic counselling and Medicare-funded mental health nursing to provide more accessible, ongoing psychosocial support.

Finally, Ali shares GenoCare’s broader vision — using digital tools, education, and streamlined workflows to reduce administrative burden and allow clinicians to spend more time supporting patients.

This episode is relevant for clinicians, patients, and families navigating genetic testing or working in genomics and reproductive care.

When genetic testing reveals new information, the impact rarely stops with one person. In this episode, we’re joined by Associate Professor Belinda McLaren, researcher in genomics at Murdoch Children’s Research Institute, to explore how families share genetic information — and why these conversations can be complex, emotional, and deeply important.

We discuss whether people have an obligation to tell relatives about genetic results, how family dynamics shape communication, and why timing matters. Drawing on research and clinical experience, Belinda and genetic counsellor Ellie unpack common challenges including guilt, anxiety, estrangement, adoption, and differing readiness to know.

This conversation highlights the role of genetic counsellors in supporting families over time, the value of cascade testing, and why sharing genetic information is often an ongoing process rather than a single conversation.

This episode is relevant for clinicians, patients, and families navigating carrier screening, inherited conditions, or prenatal and reproductive genetic testing.

Cystic fibrosis (CF) is one of the most common inherited, life-shortening childhood conditions — but its story is changing.

In this episode, Dr Ali Archibald is joined by Professor John Massie, respiratory physician and CF specialist, to unpack what cystic fibrosis is, how it affects the body, and how advances in treatment are transforming outcomes for many people living with CF.

Together, they explore:

• How CF is inherited and why carrier screening matters

• What day-to-day life with CF can look like, from infancy to adulthood

• The impact of modern CFTR modulator therapies and who can benefit

• Why newborn screening and reproductive carrier screening play different but complementary roles

• How families experience diagnosis, decision-making, and care pathways

This conversation is designed for clinicians, prospective parents, and anyone seeking a clear, compassionate explanation of cystic fibrosis in today’s clinical landscape.

Pre-implantation Genetic Testing (PGT-M): What Clinicians and Patients Need to Know

In this episode, A/Prof Alison Archibald, Certified Genetic Counsellor and Co-Founder of GenoCare, is joined by Alice Weeks, Genetic Counselling Manager at No.1 Fertility, to explore pre-implantation genetic testing (PGT) with a focus on PGT-M.

They discuss how patients typically arrive at PGT-M following carrier screening or a known genetic diagnosis, what the IVF and embryo testing process involves, how results are interpreted, and the limitations of testing. The conversation also covers the psychosocial impacts of IVF and genetic decision-making, and how clinicians can best support patients navigating these complex choices.

This episode is designed for genetic counsellors, fertility specialists, GPs, and referrers involved in reproductive care.