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Improving diagnostic pathways for rare diseases in regional Australia

Home Our project areas Genomic implementation projects 2022 Improving diagnostic pathways for rare…

Summary

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. 

Project Lead

Dr Mathew Wallis

Tasmanian Health Service


More projects

Improving access and equity to blood cancer genomic diagnostics and treatment in the Northern Territory

Development of culturally-aligned and language-appropriate participant information and education resources for Australian ethnic minority ancestry groups under-represented in clinical and population genomics research

Genomics in schools: Resources to engage students in the translation of genomics to the real world

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info@australiangenomics.org.au
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Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

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