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Developing best practice rare disease diagnostic care models in a real-world rural/regional setting

2025-07-24 genetic and genomic medicine Title + abstract only
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BackgroundAlthough individually rare, collectively rare diseases are more common than diabetes mellitus. The diagnostic odyssey for rare diseases is typically prolonged. AimWe aimed to hear the voice of rare disease stakeholders to provide evidence for strategies to improve rare disease care in Tasmania, Australia. MethodsMixed methods research with surveys, focus groups, and interviews captured the voice of healthcare consumers with rare disease, their families, and their caregivers, as well ...

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