This report examines the current state of Australia’s rare disease policy landscape and identifies policy gaps. It provides eight recommendations – for the consideration of both the Commonwealth and State Governments – aimed at ensuring all Australians living with a rare disease experience health equity.

Key findings

• While each disease may be ‘rare’, collectively, rare diseases affect up to 8% of the Australian population.
• There is growing evidence of the disproportionate fiscal impact of rare disease, providing the opportunity for policymakers to consider innovative, cross-sector policy responses.
• Australians living with rare disease are subject to a 'postcode lottery' due to patchy and inconsistent policy settings across each jurisdiction.

Recommendations

1. The Commonwealth should develop and legislate a Rare Disease Act, which legislates the establishment of an Office of Rare Disease (ORD).
2. Implement the National Strategic Action Plan for Rare Disease, with priority given to the formation of an implementation group.
3. Ensure access to innovative medicines by reforming the PBS.
4. State and territory governments should develop rare disease strategies for their jurisdictions, aligned to the National Strategic Action Plan.
5. ‘Centres of Expertise’ for rare disease should be expanded around the country, with support from the Commonwealth government.
6. Strengthen Australia’s diagnostic and screening framework.
7. Expedite the establishment of the National One Stop Shop for clinical trials.
8. The Commonwealth should partner with the states and territories to design and implement a workforce strategy specific to rare disease.