Designing a robust national approach
This project will ensure a nationally consistent, ethically justified approach to support and embed genomic testing in primary health. We will build, evaluate and integrate a suite of tools to support practitioners and consumers.
Project sponsor: MRFF Genomics Health Futures Mission Grant (MRF:2025125)
About the project
Many GPs currently have limited experience in providing genomic tests. A major impact therefore will be to address this gap. Moving away from ad hoc management by individual practitioners using varied patient-funded commercial tests (especially for reproductive screening), to nationally consistent, equitable care pathways will ensure high quality, ethically robust care is provided for consumers and their families.
A platform of previous work has already identified barriers and enablers for individual practitioners and consumers around genomic testing:
- lack of skills and knowledge
- lack of access
- lack of time
- lack of confidence when returning tests
- the risk of moral distress.
These barriers inform this project.
Project goals
Using the three condition reproductive screen and cascade testing for familial hypercholesterolaemia as genomic test exemplars available for GPs to order, we aim to:
- Develop, implement, disseminate and evaluate key supports for GPs:
- a practical guide to dealing with ethical issues raised by genomics that can lead to moral distress for GPs
- educational modules for GPs using complex case studies
- updated genetic test information in HealthPathways.
- Develop, implement, disseminate and evaluate key supports for consumers in three languages:
- decision aid for individuals considering reproductive carrier screening
- information about genomic tests.
- Model the costs and benefits of implementing genomic testing in primary health settings.
These goals will enable:
- genomic testing pathways for GPs
- optimised care for consumers
- the ability to estimate the long-term impact on health outcomes and healthcare resources.
Project lead: Professor Jeffrey Braithwaite
- Associate Professor Stephanie Best
- Dr Kate Churruca
- Michaela Cormack
- Professor Henry Cutler
- Dr Darran Foo
- Dr Varinder Jeet
- Dr Klay Lambrell
- Associate Professor Janet Long
- Dr Janani Mahadeva
- Dr Sam Sheriff
- Dr Samantha Spanos
- Dr Maryam Vizheh
- Professor Simon Willcock
Other members and collaborators
- Dr Alison Archibald – Murdoch Children’s Research Institute
- Julie Cini – Consumer Representative
- Professor Martin Delatycki – Murdoch Children’s Research Institute
- Dr Lisa Dive – University of Technology Sydney
- Samantha Edwards – University of Western Australia
- Monica Ferrie – Victorian Clinical Genetics Services
- Lucinda Freeman – University of Technology Sydney
- Associate Professor Lucy Gilkes – University of Notre Dame Australia
- Professor Edwin Kirk – University of New South Wales
- Professor Nigel Laing – University of Western Australia
- Dr Ruth Leibowitz – University of Melbourne
- Associate Professor Belinda McClaren – Murdoch Children’s Research Institute
- Professor Ainsley Newson – University of Sydney
- Associate Professor Alison Trainer – Peter MacCallum Cancer Centre