Episode 10: Carrier screening is no longer risk-based — but many clinicians are still treating it that way.

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 That thinking is outdated — and it’s limiting access to care.In this week's Genocare podcast, Ali is joined by CMH Nurse Emma to step back and unpack the fundamentals of reproductive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 practiceWhat this episode coversWhy this matters nowGuidelines 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