2023 Status Report: Implementing the National Strategic Action Plan for Rare Diseases

RVA News

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), launched in 2020, is the first nationally coordinated effort to address rare diseases in Australia.1 As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) is leading the collaborative implementation of the Action Plan.

Between September and October 2022 and during February 2023, RVA conducted an activity scan—the first measure of Action Plan progress since its launch in 2020—inviting the rare disease sector to share their projects, initiatives and achievements. Preliminary findings were shared at the 2022 National Rare Disease Summit last November. A summary of the findings to date was shared with attendees at RVA’s 2023 Rare Disease Day Parliamentary Event in March. The full status report is now available at the link below.

This status report of Action Plan progress is a means of introspection for the whole sector. The results are intended to support all stakeholders to review and refine their approaches for the most effective and efficient path to early implementation of sustainable and systemic change across all pillars, priorities, actions and implementation steps.

Summary of findings and recommendations

The activity scan captured hundreds of activities aligning with Action Plan Pillars and Priorities. These activities were categorised according to 5 key elements of progress—Input, Activities or Processes, Outputs, Outcomes and Impact. The activities were also mapped to the 8 key themes in the Action Plan, developed by the rare disease sector for the rare disease sector, as descriptive indicators of progress. The results set a baseline for future measures of implementation progress, identify areas that need more attention and highlight strengths across the sector.

All governments must urgently invest in the rare disease sector. This should include investment in regular reviews of Action Plan progress to support iterative implementation plans for a responsive, dynamic, transformative and targeted approach.

The sector must be supported to collectively and continually:

  • prioritise gaps;
  • ensure activities address priorities across more than one Pillar;
  • translate input, activities and outputs into outcome and impact;
  • work towards systemic change and prioritisation of broader impact;
  • count rare diseases in Australia;
  • progress sustainable systems and workforce for all rare diseases;
  • ensure cross-system collaboration and partnerships;
  • facilitate early implementation;
  • address the specific needs of the priority populations identified in the Action Plan; and
  • foster a culture of evaluation.

Implementation of the Action Plan is the ongoing responsibility of all stakeholders, including all levels of government, the public and private health sectors, rare disease organisations, industry, researchers and the wider community. RVA remains committed to leading the collaborative implementation of the Action Plan and will continue to monitor and evaluate progress and steer the sector to the realisation of the collective vision for the best possible health and wellbeing outcomes for Australians living with a rare disease.


Full Status Report


  1. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases