What does a genetic counsellor actually do inside an IVF clinic? Far more than most people realise.

In this episode, Ali speaks with Rebecca Dickson, Genetic Counselling Manager at Genea, one of Australia's leading fertility services, about the expanding role of genetic counselling across the entire fertility journey — from carrier screening, genetic testing related to infertility and donor conception, through to embryo testing, complex results, and prenatal support.

Rebecca shares how genetic counsellors are now embedded across multiple touchpoints in the IVF process, supporting patients through some of the most emotionally and clinically complex decisions they'll ever face. She also speaks about the psychosocial toll of fertility treatment, why the timing of contact matters so much, and the power of having a plan when everything feels uncertain.

Together they explore:

- What genetic counsellors do in the fertility setting

- Reproductive carrier screening in IVF — how couples are screened and what happens when increased risk is identified

- Screening egg and sperm donors

- Preimplantation genetic testing (PGT) — testing embryos for known conditions, structural rearrangements, and aneuploidy

- Common genetic tests in fertility care — carrier screening, karyotypes, PGT and customised testing

- What is a karyotype? — chromosomes, structural rearrangements, and why this test matters for people experiencing infertility or miscarriage, and the early testing

- The genetic counselling process for PGT — what patients need to know about timelines, family involvement, and managing expectations

- Mosaic embryos — what mosaicism means, how results are interpreted, and the complex decision-making around transferring mosaic embryos

- Why every patient's situation is different — individual circumstances, values, and reproductive history shape how results are received

- Genetics and the donor space — screening intended parents and donors, matching, managing unexpected findings, and the complexities of international vs. local donors

- The emotional side of fertility and genetics — vulnerability, long treatment journeys, and supporting patients who are physically and emotionally drained

- How genetic counsellors provide support — understanding the journey, the power of a plan, involving partners, and knowing when to listen

- Where the gaps are — lack of formal integration of genetic counselling into standard fertility care pathways, and the need for clearer referral standards

- Where fertility genetics is heading — expanded carrier screening panels, polygenic risk scores, whole genome sequencing as a diagnostic tool, and the increasing complexity of results

- The importance of consistency in care and having skilled genetic counsellors alongside advancing technology

This episode is for genetic counsellors, fertility specialists, obstetricians, GPs, midwives, and anyone involved in reproductive care. It's also for individuals and couples navigating IVF who want to better understand the role of genetic counsellors and the support that exists.

Guest: Rebecca Dickson — Genetic Counselling Manager, Genea

GenoCare: genocare.com.au

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

In this episode, Ali 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 and complementary roles

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

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

In this episode of the GenoCare Podcast, Ally sits down with clinical psychologist Frances Bilbao, founder of Mums Matter Psychology, to explore the emotional impact of pregnancy, perinatal mental health, and the growing complexity of genetic testing during pregnancy.

The conversation dives into:

• Why pregnancy and early parenthood can be one of the most psychologically vulnerable periods in a person’s life
• How unexpected genetic screening results can trigger anxiety, uncertainty and identity disruption
• The emotional toll of waiting for diagnostic answers
• The role of mindfulness, self-compassion and acceptance-based therapies
• The impact on relationships and partners
• Why early psychological support matters — even before someone reaches “crisis point”

Frances also shares practical strategies for coping with uncertainty, explains why many people feel detached or overwhelmed after difficult prenatal news, and highlights the importance of accessible, specialised perinatal mental health support.

Frances explains how pregnancy and becoming a parent often represent a major identity shift and developmental transition — even for people who have never previously struggled with mental health.

The episode explores the psychological impact of receiving unexpected screening results during pregnancy and how uncertainty can quickly spiral into anxiety and fear.

Frances discusses practical psychological approaches, including:

• Mindfulness
• Grounding techniques
• Acceptance and Commitment Therapy (ACT)
• Learning to observe anxious thoughts without becoming consumed by them

The discussion highlights how many parents judge themselves harshly during difficult pregnancies and why compassionate self-talk can significantly improve emotional resilience.

The episode also examines how different coping styles between partners can either strengthen or strain relationships during pregnancy complications and uncertain genetic results.

Frances explains why some people emotionally detach from a pregnancy after difficult results — and why this is often a protective psychological response rather than a failure of bonding.

The conversation closes with practical advice for families and healthcare professionals about recognising distress early, seeking help proactively, and building wraparound support systems for patients navigating genetic testing and pregnancy-related uncertainty.

• Mums Matter Psychology
• Centre of Perinatal Excellence (COPE)

One of the strongest themes from this episode is that struggling emotionally during pregnancy complications or uncertain genetic testing is not weakness — it is often a very normal human response to uncertainty, threat and major life change. Early support can make a profound difference not just for parents, but for long-term family wellbeing.

Key Topics CoveredWhy the Perinatal Period is So Emotionally IntenseThe Emotional Impact of Genetic Testing ResultsCoping With UncertaintyThe Role of Self-CompassionSupporting Couples Through StressAttachment, Detachment & Pregnancy Loss FearsWhy Early Support MattersResources MentionedKey Takeaway

Episode Summary

Genomics is ready. But are our health systems, clinical teams, and education frameworks ready to support it at scale? In this second episode with A/Prof Amy Nisselle, host Alison Archibald explores what it actually takes to embed genomics into routine clinical practice — from the evolving role of genetic counsellors to AI-powered tools that are changing the way patients and clinicians learn.

Guest

A/Prof Amy Nisselle is a genomics education, research, and evaluation expert across Murdoch Children's Research Institute, the University of Melbourne, and the University of Queensland. With over 20 years in the field, Amy is one of Australia's leading thinkers on translating genomic science into clinical practice.

What We Cover

The genetic counsellor as systems glue — Genetic counsellors aren't just patient-facing. They play critical roles as lab liaisons, result interpreters, educator-clinician bridges, and confidence builders for mainstream practitioners who need a trusted expert to call.

The lab liaison role — A genetic counsellor embedded between the referring doctor and the laboratory can uplift poor referrals, triage test complexity, and ensure results are understood and acted on correctly. There aren't enough of them — but evidence shows they're highly cost-effective.

The confidence ladder — Research shows doctors need to cross a confidence dip before genomics becomes routine. The solution isn't more lectures. It's foundational knowledge paired with real clinical exposure — workplace learning that makes genomics relevant right now, to this patient, today.

Just start the conversation — A concept from SMA Australia advocate Julie Sini that resonated strongly with both Amy and Ali: GPs don't need to know everything. They just need to start the conversation and know who to call. That alone builds confidence over time.

The clinician personas — Amy's PhD student Alice identified six types of mainstream clinician attitudes toward genomics: from the self-directed champion to the skeptical pragmatist. Understanding which type you're talking to changes how you design education entirely.

AI in the genomics workflow — AI has a clear and growing role: summarising patient information, guiding decision-making through tools like Genetics Advisor, generating personalised education videos before consultations, and creating safe simulations for clinicians to practice genomic conversations. The key insight: AI handles the standardised content so humans can focus on the emotional and complex.

What good genomic care looks like — Amy's answer is elegant: every clinician and every patient has the competence and confidence to engage with genomics as relevant to their role. Not uniform mastery — contextual capability. The rural GP who can order a test and know who to call. The patient who feels informed and comfortable with the choices they're making.

Key Quote

"Good genomic care is everyone being informed and making an informed decision — the clinician and the patient. I want them to have the competence and confidence to do genomics in the context relevant to them."

Episode Summary

Genomics is moving into mainstream healthcare — but only if the right people understand it. Not just geneticists, but GPs, nurses, medical specialists, allied health practitioners, and patients. In this episode, host Alison Archibald speaks with A/Prof Amy Nisselle about the science and art of genomics education — who needs it, how to design it well, and why it's one of the most powerful levers we have for improving access to genetic testing in Australia.

This is Part 1 of a two-part conversation. Part 2 explores what it actually takes to embed genomics into healthcare systems.

Guest

A/Prof Amy Nisselle is a genomics education, research, development, and evaluation expert at Murdoch Children's Research Institute, The University of Melbourne, and The University of Queensland. With over 20 years in the field, Amy is one of Australia's leading thinkers on communicating genomics to diverse audiences.

What We Cover

The Babel fish of genomics — Amy's role is to sit between two disciplines and translate one for the other, helping scientists communicate to patients and clinicians communicate to families.

Why genomics education is harder than it looks — Most education content asks readers to jump between the visible, the microscopic, and the symbolic without realising it. Understanding this framework is what separates education that lands from education that confuses.

The step most people skip — Before creating any education, you need a needs assessment. Who is it for? What do they already know? How will they engage? Most well-meaning education in Australia has been created without this step.

The logic model — Start with the goal, work backwards to the outcome, the required action, and the education that enables it. Always do an opportunity analysis first — what already exists that you can leverage?

What mainstreaming genomics actually means — Getting the parts of genomic medicine that are practical and learnable into the hands of clinicians outside specialist genetics services. GPs can order an MRI without interpreting it. We're at the same point with genomics.

The 17-year rule — Technology typically takes 17 years from bench to bedside. The genome was sequenced in 2000. By 2017 sequencing costs had dropped enough to make it clinically practical. NIPT and expanded carrier screening followed right on schedule.

The confidence dip — A little genomics education actually drops clinicians' confidence before it builds it back. Understanding that changes how you design programs and support people through the transition.

The workforce map — Genetic specialists in the bullseye, mainstream clinicians in the next ring, bioinformaticians and software developers in the outer ring. The trick isn't training the bullseye harder — it's bringing genomics out to the rings.

Ali recently appeared on the the StongHer podcast, hosted by Hannah Gair. The podcast empowers, elevates, and unites mothers raising children with disabilities

Exploring the raw, real, and often unspoken side of caregiving—identity loss, emotional burnout, invisible labor, daily challenges, and the fierce resilience it takes to rise through it all.

Hosted by Hannah Gair, a mother, advocate, and advisor,  The StrongHER Side gives voice to the women behind the care plans, through expert interviews, solo deep dives, and the stories of other incredible mothers walking this journey.

This isn’t just a podcast, it’s a lifeline, a transforming of the way mother's see themselves and their role, and creating ripple effects of hope, empowerment, and resilience across families worldwide

Connect with the StrongHER Side:

Instagram: https://www.instagram.com/strongherside/ 

Website: https://www.strongherside.com/ 
Podcast: https://stronghersidepodcast.podbean.com/

Informed consent is the cornerstone of ethical genetic testing — but in a world of increasing genomic complexity, time-poor clinicians, and mainstreaming at scale, how do we make it work in practice?

Ali speaks with Dr Lisa Dive, bioethicist at UTS, about what informed consent really means in the context of genetic testing — and why the standard model of ticking boxes and signing forms falls well short.

This is a conversation about language, values, human connection, and the future of ethical genomic care.

Guest

Dr Lisa Dive is a bioethics academic with a philosophy background and deep expertise in the ethical dimensions of genetics and genomics. She teaches ethics and research in the UTS Genetic Counseling program and has worked extensively with clinical colleagues on real-world ethical challenges in genomic medicine. Lisa played a key role in the ethics arm of Mackenzie's Mission — Australia's landmark reproductive genetic carrier screening study.

What We Cover

What informed consent actually is — and why it's a communication process, not a form. Lisa reframes consent as a dynamic interaction aimed at helping people understand whether a genetic test aligns with their values and will genuinely benefit their life.

Why genetics is different — genetic information is complex, probabilistic, and often uncertain. Unlike a standard medical test, results rarely deliver a simple yes or no. Preparing people for that ambiguity is central to the consent process.

Individual autonomy vs family implications — genetic results don't just affect the person tested. Lisa introduces the concept of relational autonomy — the idea that good decision-making is situated within family, social, and cultural contexts, not just individual preference.

Cultural and social dimensions — decision-making norms vary. In some cultures, family elders are central. In others, individual choice is paramount. Adapting consent processes to those contexts isn't optional — it's essential.

The "least worst decision" — a phrase coined by host Ali Archibald to describe the genuinely hard choices people face in prenatal and reproductive genetics. Lisa validates the concept and unpacks how skilled clinicians help people reason through it.

The gap between how consent should work and how it actually does — time pressure, administrative burden, and tick-box forms all erode the quality of the consent conversation. Lisa identifies this as the central challenge.

The Mackenzie's Mission decision aid — a standout example of digital tools done right. The decision aid didn't change most people's decisions, but it dramatically increased their confidence. Unexpectedly, it also prompted couples to discuss their values with each other — bringing male partners into the conversation in a way clinical consults rarely had.

AI scribes and freeing up the human — removing the burden of note-taking during consults creates space for clinicians to be more present. Lisa sees this as one of several ways technology can amplify — rather than replace — the human elements of care.

Scaling informed consent ethically — as genetic testing becomes mainstream and volumes grow, digital tools will be critical. But Lisa is clear: the goal is to deploy them where they add value, not to outsource the human interaction that sits at the heart of good consent.

One thing she'd change — stop defaulting to "more information is better." Utility should be the lens. Does this test give this person information that will genuinely serve their life? That question should anchor every consent conversation.

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