To respond effectively to rare diseases, Australia needs policy that addresses the common challenges of living with a rare disease. This page highlights several Australian and international policies that impact people living with a rare disease and the broader rare disease sector.

Please note: This is not an exhaustive list.

Since its inception as the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) has focused on driving a coordinated national policy response to rare disease. As part of this work, RVA developed the following policy documents:

Communique: Key Findings from the 2014 RVA National Roadshow on Rare Diseases

Call for a National Rare Disease Framework: 6 Strategic Priorities

National Strategic Action Plan for Rare Diseases

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) is the first nationally coordinated effort to address rare disease in Australia.

RVA led the collaborative development of the Action Plan through an extensive, nationwide multi-stakeholder consultation process. The Action Plan was launched in 2020 by the Federal Minister for Health with bipartisan support.

RVA is working in partnership with stakeholders to support the collaborative implementation of the Action Plan, recognising that implementation is the shared responsibility of the entire rare disease sector.

Action Plan Pillar: Awareness and Education

• National Strategy for Australia’s Rare Metabolic Diseases Workforce 
• Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia

Action Plan Pillar: Care and Support

• Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases
• RVA Position Statement – Government response to the Tune Review of the NDIS Act 2013
• COVID-19 pandemic: critical care guidelines for Australians living with a rare disease

Action Plan Pillar: Research and Data

• Australia’s Top 10 Rare Disease Research Priorities
• Recommendations for a National Approach to Rare Disease Data: Findings from an Audit of Australian Rare Disease Registries

Rare diseases are complex, often progressive conditions that intersect multiple systems, requiring coordination between health, disability, and other systems. Due to the great complexity, significant unmet need and critical urgency associated with rare diseases, systemic reform is required.

The following policy frameworks are relevant to Australians living with a rare disease and the broader rare disease sector.

Action Plan Pillar: Care and Support

• Australian Government response to the Post-market Review of the Life Saving Drugs Program
• Australia’s Disability Strategy
• Funding Rare Disease Therapies in Australia – Ensuring equitable access to health care for all Australians
• Newborn Bloodspot Screening National Policy Framework
• National Carer Strategy
• National Medicines Policy
• National Strategic Framework for Chronic Conditions 2026–2035
• Post-market Review of the Life Savings Drugs Programme June 2014 – June 2015
• The Paediatric Palliative Care National Action Plan
• Tasmanian Government 20-Year Preventative Health Strategy Consultation

Action Plan Pillar: Research and Data

• A National Strategy for Clinical Quality Registries and Virtual Registries 2020–2030
• Communique: Long-Term Strategic Guidance of Australia’s Digital Health and Health Data Infrastructure
• Guidelines for Community Involvement in Genomic Research
• National Clinical Trials Governance Framework | Australian Clinical Trials
• National Health and Medical Research Strategy
• National Health Genomics Policy Framework and Implementation Plan 2026-2030 – Consultation Draft