Improving diagnostic pathways for rare diseases in regional Australia

While rare diseases may be individually rare, they are collectively common, and can often be life-threatening or chronically debilitating. Rare diseases usually have a genetic cause, and a genetic diagnosis can be critical to finding appropriate management or treatment. Conducting genomic testing in a timely manner can be challenging, particularly in remote and rural areas. 

Dr Mathew Wallis (Tasmanian Clinical Genetics Service) will lead this project, co-designing innovative service models for genomic testing and diagnostic pathways in regional Australia. With strong elements of community co-design and close stakeholder engagement, this project expects to provide a greater understanding of community needs, insights into effective cultural approaches, novel solutions to enable geographically and culturally equitable rare disease diagnoses, and greater trust and improved genomic literacy within the community.  Importantly, project outcomes can be used to inform health system optimisation in other regional and remote areas across Australia.