Episode 9: From Mackenzie's Mission to MBS: The Carrier Screening Journey with Kirsten Boggs

GenoCare Podcast – Show NotesReproductive Genetic Carrier Screening: From Niche to MainstreamGuest: 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 programThree-gene Medicare carrier screen — CF, SMA, fragile XExpanded carrier screening — up to 1,000+ genes, currently privately fundedAcute Care Genomics Project — rapid whole genome sequencing for critically unwell newborns and infantsAustralian Genomics — national report on a future carrier screening programThe 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.auEpisode Summary What You'll Hear Key Takeaways Mentioned in This Episode