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Levers and constraints on general practitioners offering and managing reproductive genetic carrier screening in Australian primary care: a rich graphic of the complex context

Research output: Contribution to journalArticlepeer-review

Abstract

Reproductive genetic carrier screening (RGCS) identifies people who have an increased chance of having a child with a serious genetic condition. In Australia, since November 2022, RGCS for three conditions, cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, has been publicly funded via Medicare (Australia’s universal health insurance scheme). Therefore, tests are offered at no cost to eligible people and are accessible through general practitioners (GPs), making primary care a key point of access. This study aimed to develop a rich graphic illustrating the ecosystem of offering RGCS in Australian primary care. The three-stage, exploratory, qualitative approach involved: (1) constructing the first draft of the rich graphic using literature, policy documents, and team expertise; (2) conducting semi-structured interviews with eleven key informants representing diverse stakeholders; and (3) conducting a survey with key informants to review the penultimate version and produce the final version. The final rich graphic positioned GPs at the centre of a network of six stakeholder groups: consumers, government, laboratories, professional bodies, healthcare organisations, and consumer support groups. Inductive thematic analysis identified three overarching themes: (1) reinforcing patterns and feedback cycles; (2) structural misalignments and systemic tensions; and (3) emergent adaptations and system responses. Our analysis revealed that several factors influencing GPs’ ability to offer RGCS are not isolated but parts of dynamic patterns of linkages, relationships, interactions, interdependencies, feedback loops, and behaviours that generate complex, sometimes unintended and contradictory, system-level effects, collectively shaping the complex system. Using rich graphic methodology revealed chains of interdependencies that would have remained obscured by using traditional linear implementation frameworks.
Original languageEnglish
Article number101
Pages (from-to)1-12
Number of pages12
JournalBMC Medical Genomics
Volume19
Issue number1
DOIs
Publication statusPublished - 28 Apr 2026

Bibliographical note

Copyright the Author(s) 2026. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

  • Genomics
  • Implementation science
  • Rich graphic
  • Reproductive genetic carrier screening
  • Genetic Testing
  • Complexity

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