Reproductive genetic carrier screening is often misunderstood — and that’s part of the problem.

Despite now being recommended for all individuals planning or in early pregnancy, many clinicians still associate it with family history or specific ancestry. That thinking is outdated — and it’s limiting access to care.

In this week's Genocare podcast, Ali is joined by CMH Nurse Emma to step back and unpack the fundamentals of reproductive genetic carrier screening — what it is, who it’s for, and why it matters now more than ever.

• What reproductive genetic carrier screening actually tests for — and how it differs from other genetic tests

• Why everyone is a carrier for something — and why screening is no longer just for high-risk groups

• The critical shift from family history-based testing to population-level screening

• How risk is determined at the couple level — not the individual level

• Why most at-risk couples have no known family history, and what that means for clinical practice

What this episode coversWhy this matters now

Guidelines from major bodies — including the RACGP, RANZCOG, and HGSA — are clear:

carrier screening should be offered to anyone planning or early in pregnancy.

But recommendation alone isn’t enough.

As genomics becomes embedded in routine care, the real challenge is ensuring clinicians have the confidence, tools, and systems to offer screening appropriately — and support patients through the process.

Further resources

• Reproductive carrier screening fact sheet (Centre for Genetics Education):

https://www.genetics.edu.au/PDF/Reproductive_carrier_screening-fact_sheet-CGE.pdf

• Australian resource hub for carrier screening: www.carrierscreening.org.au

GenoCare Podcast – Show NotesReproductive Genetic Carrier Screening: From Niche to Mainstream

Guest: Kirsten Boggs | Senior Genetic Counsellor & Researcher Host: Ali (Dr Alison Archibald)

What if you could know — before pregnancy — whether your child is at risk of a severe genetic condition? That's the promise of reproductive genetic carrier screening. And it's no longer a niche offering for the few. It's becoming part of routine reproductive healthcare for everyone.

In this episode, Ali sits down with senior genetic counsellor and researcher Kirsten Boggs to trace the journey of carrier screening in Australia — from inaccessible and underfunded, to Medicare-listed and increasingly mainstream.

Kirsten brings rare depth to this conversation. She's worked in clinical genetics at a children's hospital, was a lead genetic counsellor in the New South Wales arm of the Acute Care Genomics project, and was a key player in Mackenzie's Mission — the landmark national research program that tested expanded carrier screening at population scale. She's seen firsthand what it means for families to receive a devastating diagnosis and ask: could we have known?

The landscape today. What's covered under Medicare (cystic fibrosis, spinal muscular atrophy, fragile X syndrome), where the gaps are, and why expanded screening — covering up to 1,000+ genes — remains out of reach for most Australians.

Mackenzie's Mission. How a couple-based screening model, an online education and consent platform, and a home mouth-swab kit quietly revolutionised how we think about delivering genomic testing at scale. Launched in March 2020 — yes, that March — the program showed that population-level screening is not only possible, it works.

The education gap. Why GPs are still telling patients carrier screening "doesn't apply" to them. Why that's wrong. And what needs to change.

Trust as infrastructure. Kirsten's unexpected answer to what makes population screening programs succeed: public trust in data security, trust in the platform, and — crucially — trust in patients to make their own decisions.

The future of genetic counselling. Kirsten's vision for a nationally funded, digitally accessible genetic counselling service that meets people where they are — not a two-to-five year waitlist.

• Carrier status is usually discovered when a child is diagnosed — not before. That's the problem carrier screening solves.
• Removing the cost barrier via Medicare has already dramatically improved equitable access across Australia.
• Digital platforms don't replace genetic counsellors — they free them up to do the work only humans can do.
• The next frontier isn't just expanding what we screen for. It's building the infrastructure to support every person who gets a result.

• Mackenzie's Mission — Australia's national reproductive carrier screening research program
• Three-gene Medicare carrier screen — CF, SMA, fragile X
• Expanded carrier screening — up to 1,000+ genes, currently privately funded
• Acute Care Genomics Project — rapid whole genome sequencing for critically unwell newborns and infants
• Australian Genomics — national report on a future carrier screening program

The GenoCare Podcast explores the intersection of genomics, technology, and healthcare delivery. New episodes regularly.

For more information on GenoCare and the Igentify platform, visit genocare.com.au

Episode Summary What You'll Hear Key Takeaways Mentioned in This Episode

Pregnancy is often described as a joyful time. But for many women and their partners, the reality is can be more complex — and when an unexpected genetic testing result enters the picture, the emotional stakes can rise dramatically.

In this episode, GenoCare Co-Founder A/Prof Ali Archibald is joined by Kathy Solanki — credentialed perinatal mental health nurse, midwife, and member of the GenoCare counselling team — for an illuminating conversation about the emotional landscape of pregnancy and early parenthood.

Kathy draws on years of clinical experience to explore why pregnancy is such a psychologically heightened time, what happens in the body when stress and anxiety take hold, and how unexpected prenatal results can challenge a person's sense of what their future looks like.

They discuss the science of co-regulation — how a calm clinical presence can help a patient's nervous system settle — and why psychosocial support shouldn't be reserved only for patients who are visibly struggling. As Kathy puts it, it should simply be woven into every clinical encounter as part of whole-person care.

Symptoms of anxiety, depression, or both are common during pregnancy and the postnatal period. Yet the emotional impact of unexpected genomic results is still widely under recognised in clinical practice.

One of the founding insights behind GenoCare — born from Ali's qualitative research — was that patients often don't show their distress on the surface. People can look fine. They often aren't. That's why GenoCare's model is built around proactive, preventative psychosocial support, available to every patient navigating genetic testing in pregnancy.

In this episode you'll hear about:— Why pregnancy is an emotionally heightened time for most women— The physical stress response and what it means for patient care— How unexpected prenatal results can trigger shock, grief, and identity disruption— The role of co-regulation in clinical encounters— Why psychosocial support should be offered universally, not selectively— Practical strategies patients can use to manage anxiety and stress.

About Kathy Solanki Kathy is a credentialed perinatal mental health nurse and midwife with extensive experience supporting women and families through the emotional complexities of pregnancy and early parenthood. She is part of the GenoCare counselling team.

About GenoCare GenoCare delivers innovative models of care that integrate expert genetic counselling with psychosocial support, designed to be person-centred, scalable, and accessible.
Utilising the Igentify platform, GenoCare delivers digital solutions that streamline education, consent, and care pathways, elevating genetic care.

Learn more: www.genocare.com.au

In this episode of the GenomeCare Podcast, we explore prenatal genomic sequencing and how technologies like whole exome sequencing and whole genome sequencing are transforming diagnosis when differences are detected during pregnancy.

Ali interviews genetic counsellor Dr Sarah Long, who works in the public hospital system in Western Australia and has extensive experience in prenatal genomics, clinical genetics, and research. She completed her PhD studying prenatal genomic technologies and continues to research how genomic testing can be delivered in ways that best support families. Sarah was involved in the PREGEN study, which examined the implementation of genomic testing during pregnancy and demonstrated an increased diagnostic rate when genomic sequencing is used after ultrasound findings. 

Together Ali and Sarah unpack how genomic sequencing works in pregnancy, when it is used, and what the experience is like for people navigating testing after an unexpected ultrasound finding.

The conversation explores the clinical and emotional dimensions of prenatal genomics, including how genetic counsellors support families through uncertainty and complex decision-making.

• What whole exome sequencing and whole genome sequencing are and how they work

• How genomic sequencing is used when changes are detected on prenatal ultrasound

• The difference between exome sequencing and genome sequencing

• Why testing is often done as a trio (baby and both parents)

• What a “negative” or uninformative result really means

• How clinicians interpret complex findings such as variants of uncertain significance

• The role of genetic counsellors in supporting families through uncertainty

• Real patient experiences from the PREGEN prenatal genomics study

• A remarkable case where prenatal sequencing enabled life-saving treatment immediately after birth

Sarah Long is a genetic counsellor working in the public hospital system in Western Australia. Her work spans clinical genetics, prenatal genomics, and research into patient experiences of genomic testing during pregnancy.

Sarah is currently working on the GeneSafe study, exploring perspectives on invasive versus non-invasive genomic testing during pregnancy.

If you’re interested in Sarah’s research or would like to participate in her study, you can connect with her on LinkedIn.

Connect

If you’d like to learn more about prenatal diagnostic procedures:

🎧 Episode 3 – CVS and Amniocentesis Explained

Featuring genetic counsellor Jillian Kennedy, who discusses how these procedures work and when they are used.

Receiving unexpected news about your developing baby during pregnancy can be one of the most profound and destabilising experiences a person goes through. Yet our healthcare systems are largely set up to deliver the test — not to support what comes after.

In this episode, A/Prof Alison Archibald speaks with Pieta Shakes — credentialed mental health nurse, researcher at James Cook University, and founder of Through the Unexpected — about what parents experience when they receive unexpected news from prenatal testing, and why current models of care often fall short.

Drawing on her own lived experience of receiving unexpected information about her baby's development at 31 weeks and her PhD research into psychosocial outcomes, Pieta unpacks the real impact of prenatal diagnosis — including the threat response it can trigger, the isolation, the disruption to identity and attachment, and the reality that many parents carry these impacts for years without adequate support.

Together they explore:

• Why "shock" doesn't capture what's really happening — and what the threat response actually looks like
• The diversity of experiences and why there's no single way people respond to this news
• How medicalisation can sometimes overshadow the human experience for parents
• The growing gap between funded testing and funded support in Australia
• What good models of care could look like — accessible, flexible, and available over time
• What practitioners can do right now to create safer spaces

This episode is for genetic counsellors, obstetricians, midwives, GPs, mental health professionals, and anyone working in prenatal or reproductive care. It's also for parents and families who have been through this experience and want to feel seen and understood.

Guest: Dr Pieta Shakes — Founder, Through the Unexpected (throughtheunexpected.com) | Credentialed Mental Health Nurse | Teaching & Research Academic, James Cook University

GenoCare: genocare.com.au

Prenatal diagnosis can be a complex experience. In this episode, we speak with Jill Kennedy, a senior genetic counsellor working in the public hospital system in Western Australia, about what prenatal diagnosis is, why it may be offered, and what the process involves.

Jill explains the common pathways that lead to prenatal diagnostic testing, including carrier screening, non-invasive prenatal testing (NIPT), ultrasound findings and family history. She outlines the two main procedures — chorionic villus sampling (CVS) and amniocentesis — and discusses timing, risks, and how clinicians support informed decision-making.

This episode is designed to help listeners better understand prenatal diagnosis and the role of genetic counselling in supporting individuals and couples throughout the testing journey.

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 Dawson McClaren, researcher and academic at The University of Melbourne 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 Ali unpack common challenges including guilt, anxiety, estrangement, 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 genetic testing.