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<p>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.</p>

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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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月28日

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  • Maryam Vizheh,
  • Klay Lamprell,
  • Michaela Cormack,
  • Romika Patel,
  • Samran Sheriff,
  • Kate Churruca,
  • Louise A. Ellis,
  • Jeffrey Braithwaite,
  • Janet C. Long

摘要

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.