BMC Medical Genomics (Feb 2021)

A dynamic systems view of clinical genomics: a rich picture of the landscape in Australia using a complexity science lens

  • Janet C. Long,
  • Hossai Gul,
  • Elise McPherson,
  • Stephanie Best,
  • Hanna Augustsson,
  • Kate Churruca,
  • Louise A. Ellis,
  • Jeffrey Braithwaite

DOI
https://doi.org/10.1186/s12920-021-00910-5
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 15

Abstract

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Abstract Background Clinical genomics represents a paradigm shifting change to health service delivery and practice across many conditions and life-stages. Introducing this complex technology into an already complex health system is a significant challenge that cannot be managed in a reductionist way. To build robust and sustainable, high quality delivery systems we need to step back and view the interconnected landscape of policymakers, funders, managers, multidisciplinary teams of clinicians, patients and their families, and health care, research, education, and philanthropic institutions as a dynamic whole. This study holistically mapped the landscape of clinical genomics within Australia by developing a complex graphic: a rich picture. Using complex systems theory, we then identified key features, challenges and leverage points of implementing clinical genomics. Methods We used a multi-stage, exploratory, qualitative approach. We extracted data from grey literature, empirical literature, and data collected by the Australian Genomic Health Alliance. Nine key informants working in clinical genomics critiqued early drafts of the picture, and validated the final version. Results The final graphic depicts 24 stakeholder groups relevant to implementation of genomics into Australia. Clinical genomics lies at the intersection of four nested systems, with interplay between government, professional bodies and patient advocacy groups. Barriers and uncertainties are also shown. Analysis using complexity theory showed far-reaching interdependencies around funding, and identified unintended consequences. Conclusion The rich picture of the clinical genomic landscape in Australia is the first to show key stakeholders, agencies and processes and their interdependencies. Participants who critiqued our results were instantly intrigued and engaged by the graphics, searching for their place in the whole and often commenting on insights they gained from seeing the influences and impacts of other stakeholder groups on their own work. Funding patterns showed unintended consequences of increased burdens for clinicians and inequity of access for patients. Showing the system as a dynamic whole is the only way to understand key drivers and barriers to largescale interventions. Trial Registration: Not applicable

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