Show Notes
️ Episode 41: Public Preferences for Genomic Newborn Screening in Australia — Insights from Discrete Choice Experiments
In this episode of Base by Base, we discuss a landmark study by Peters et al. (2025) in The American Journal of Human Genetics, which surveyed 2,509 members of the Australian public to uncover how people value and would like to see genomic newborn screening (gNBS) implemented .
Highlights of the Study: Through two discrete choice experiments, the authors demonstrated that out-of-pocket cost is the single strongest determinant of gNBS uptake, with the public valuing programs that yield 10–50 additional diagnoses per 1,000 newborns at AUD 4,600–5,700 each . Respondents showed positive utility for higher diagnostic yield, greater accuracy, and availability of curative or symptom-managing treatments, but also a clear preference for more conservative screening panels when weighed against uncertainties in disease penetrance and treatment effectiveness . On service delivery, participants preferred that initial information be provided by general practitioners or obstetricians and that high-chance results be returned in person by genetics professionals, highlighting the importance of leveraging trusted healthcare relationships for sensitive communications .
Conclusion: This work reveals broad public support for gNBS in Australia—projected uptake exceeds 87%—and quantifies the trade-offs between cost, diagnostic yield, and clinical actionability that citizens are willing to make. These insights offer policymakers a robust, evidence-based foundation for designing value-driven and ethically sound gNBS programs.
Reference: Peters, R., Best, S., Lynch, F., et al. (2025). Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia. The American Journal of Human Genetics, 112, 1–13. https://doi.org/10.1016/j.ajhg.2025.05.001
License: This episode is based on an open access article published under the Creative Commons Attribution 4.0 International license (CC BY 4.0) – http://creativecommons.org/licenses/by/4.0/
