A new report by the McKell Institute has found a rare disease strategy is urgently needed in NSW as more than 600,000 people continue to face fragmented and inconsistent care.
The report, A Rare Kind of Care, found that while rare diseases are individually uncommon they still affect up to 8% of the population, with most jurisdictions lacking coordinated approaches to diagnosis, treatment or long-term support.
CEO of the McKell Institute Ed Cavanough said a state-specific Rare Disease Strategy is urgently needed in NSW to strengthen care and support for those experiencing rare disease.
"Right now, care is scattered across hospitals, GPs, specialists and social services," Mr Cavanough said.
"No one is responsible for connecting the dots. So families are left to navigate an incredibly complex system on their own.
"A dedicated strategy dealing with rare disease will create a narrow pathway so people aren't bouncing between providers for years without answers.
"It will also strengthen the workforce by ensuring NSW has enough genetic counsellors, allied health staff and specialist clinicians to meet growing demand.
"A federally supported Office of Rare Disease must also be established so each jurisdiction is working from the same blueprint and progress is consistent across the country.
"Without coordination, thousands of families will continue to face avoidable hardship, paying high out-of-pocket costs and fighting for access to therapies available in other countries.
"Rare disease should never mean receiving second-class care and we can and must do better."
General Manager Alexion Pharmaceuticals Nicole Gauspet said the creation of state-specific strategies should complement national reforms set out in last year's Health Technology Assessment (HTA) Review.
"This report confirms the challenges Australians face in accessing PBS-listed innovative medicines for rare disease and the urgent need for Government to implement the outcomes of the HTA review," Ms Gauspet said.
"Fragmented services, long journeys to diagnosis, and disparities in care often based on where a person lives, point to the urgent need for reform.
"Australians are proud of our health system but it remains true for many the promise of world-class universal healthcare is not being delivered.
"State and Territory governments need to be developing their own rare disease strategies which, as this report notes, are the foundation for planning and delivering equitable health care."
Summary of key recommendations
Develop state and territory rare disease strategies to ensure consistent, equitable care nationwide.
Establish a National Office for Rare Diseases to coordinate care, data and policy.
Implement HTA Review reforms to deliver faster, fairer access to innovative rare-disease therapies.
Create a dedicated national rare-disease registry to improve diagnosis, planning and research.
Fund multidisciplinary, lifelong care pathways, including access to genomics and specialist services.
Strengthen supports for families and carers, including clearer navigation and streamlined funding.
