Reproductive Carrier Screening After a Genetic Diagnosis, with Giorgina Maxwell

Episode SummaryMost people approach reproductive genetic carrier screening with little prior experience of genetic conditions. But what about the families who already know? In this episode, host Alison Archibald speaks with genetic counsellor and PhD candidate Giorgina Maxwell about her published Master of Genetic Counselling research — exploring how couples who have already experienced a genetic condition in a child or pregnancy approach expanded carrier screening, and what this means for how we support them.GuestGiorgina Maxwell is a genetic counsellor and PhD candidate at Flinders University, where she is researching childhood and young-onset glaucoma, genetic causes, and barriers to accessing genetic testing and counselling. Her Master of Genetic Counselling research, completed through the University of Melbourne, was conducted in partnership with the Mackenzie's Mission team and has since been published.What We CoverWhy carrier screening matters beyond the known diagnosis — Just because a genetic condition has already appeared in a family doesn't mean there couldn't be others. Research confirms we all carry variants for multiple conditions, and Giorgina's work shows that families who have already experienced a diagnosis strongly value being screened for the broader range.How lived experience changes the way people see likelihood — Families who have already been the "one in 100,000" don't hear risk statistics the same way as couples with no prior experience. They identify with the numbers differently — and this fundamentally shapes how they engage with screening, with future pregnancy planning, and with the information they receive."Doing our due diligence" — The phrase that became the title of Giorgina's paper. Families in the study described carrier screening as part of being responsible parents — a way to gain information, restore a sense of agency, and plan for their family's future after traumatic experiences of diagnosis or pregnancy loss.Short-term anxiety versus long-term reassurance — All participants described some anxiety while waiting for results. But every single one said it was worth it. One participant put it plainly: nothing could be more traumatic than what they had already been through.What clinicians need to know — Don't narrow the focus to the condition already in the family. Check in with families down the track, not just at the point of diagnosis. And when a family reaches family planning again, that is the time to ask about psychosocial support — because returning to pregnancy after trauma brings a lot with it.The case for universal offering — Families in this study were among the strongest advocates for carrier screening being offered at a population level — not just to those with known family histories. Their experience of not knowing earlier shaped a powerful belief that everyone should be given the option.