DOI: 10.1136/bmjopen-2026-122229 ISSN: 2044-6055

Scoping review of Australian prioritisation frameworks impacting consumer access to clinical genetics: protocol

Michaela Cormack, Maya Pinn, Maryam Vizheh, Janet C Long, Jeffrey Braithwaite

Introduction

Timely access to care is critical, yet prolonged waiting lists across healthcare systems cause avoidable harm and inequity, visible to clinicians who experience moral distress when patients wait unsafely. While equity is embedded in policy, performance metrics may obscure these realities. Clinical genetics exemplifies the issue: delays in assessment, diagnosis and reproductive planning are compounded by inconsistent prioritisation processes across states and subspecialties. There is no national consensus on urgency criteria, and frameworks often overlook consumer values such as timeliness and psychosocial support. Innovations in genomics have helped some high-acuity groups but risk leaving routine and preventative care further behind.

Methods and analysis

This scoping review will map prioritisation frameworks across Australian clinical genetics services. Following Joanna Briggs Institute guidance and reported according to Preferred Reporting Items for Systematic Review and Meta-Analysis extension for Scoping Reviews, we will include tools, policies and documents describing prioritisation approaches in Australian public genetics services. Grey-literature sources including health departments, genomics programmes and professional bodies will be systematically searched. Records will be managed in NVivo, and two reviewers will independently apply eligibility criteria. A standardised data-charting form will capture framework characteristics, purpose, referral criteria, implementation and consumer-facing dimensions. A critical deductive appraisal, informed by the Health Equity Impact Assessment tool, will examine potential differential impacts on consumers. Findings will be synthesised descriptively and mapped across system levels.

This review will provide an evidence-informed overview of prioritisation approaches in Australian clinical genetics, identify variability and equity implications across patient groups and care pathways, and support more consistent, transparent and consumer-centred models of care.

Ethics and dissemination

Ethics approval has been granted by the Macquarie University Human Research Ethics Committee (HREC Reference no: 520262049067182). Contact email: ethics.secretariat@mq.edu.au Findings will be disseminated through peer-reviewed publication, conference presentations and professional forums, and will inform clinical governance and risk documentation advocating for service development at a tertiary referral hospital in Australia.

Registration

Cormack MC, Braithwaite J, Long J. A Scoping Review of Australian Prioritisation Frameworks Impacting Consumer Access to Clinical Genetics (Internet). OSF; 2026. Available from: osf.io/py8gm

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