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

Background: Although individually rare, collectively rare diseases are more common than diabetes mellitus. The diagnostic odyssey for rare diseases is typically prolonged. Aim: We aimed to hear the voice of rare disease stakeholders to provide evidence for strategies to improve rare disease care in Tasmania, Australia. Methods: Mixed methods research with surveys, focus groups, and interviews captured the voice of healthcare consumers with rare disease, their families, and their caregivers, as well as consumer advocates, community reference group, rare disease researchers, and healthcare professionals. Results: We undertook 1,014 stakeholder consultations. Participants described elements of the diagnostic pathway that worked well, as well as barriers to diagnosis. Those affected by rare disease and their caregivers emphasised the need for healthcare providers to listen and respond to consumer concerns. Collectively, stakeholders reported that challenges in rare disease diagnosis in Tasmania include difficulties accessing timely primary and specialist health care, low awareness of rare disease among health professionals in Tasmania (including how to identify people with possible rare disease and what to do next), difficulty in accessing diagnostic testing, cost and geographic barriers in accessing diagnostic care, a lack of epidemiologic information on rare disease in Tasmania and the breakdown in care and support from the health system when transitioning from paediatric to adult services. Discussion: Many participant concerns that fall under the system responsibility of the Tasmanian Government could be addressed by establishing a Tasmanian Rare Care Centre. The centre could adopt principles from cancer care, such as patient-centred care, safe and quality care, multidisciplinary care, supportive care, care coordination, communication, and research and clinical trials. Other concerns, such as the equitable implementation of emerging diagnostic technologies and the education and training of non-genetics practitioners, will require national leadership and interjurisdictional cooperation to address.