HIGHLIGHTS
- Rare diseases affect up to 40,000 Tasmanians and are often life threatening.
- Clinicians often struggle to reach a diagnosis, limiting access to appropriate care.
- Abt recommended a Rare Care Centre as a single point of care.
PROJECT
Review and Develop New Rare Disease Diagnostic Pathways Suitable for Rural and Regional Areas and Co-develop Innovative Service Models
The Challenge
Rare diseases affect approximately eight percent of Australians, including an estimated 30,000 to 40,000 Tasmanians. The diseases can often be life-threatening or chronically debilitating. While there is a spectrum of rare disease types (including undiagnosed cancers, infections, and autoimmune disorders), about 80 percent are genetic.[1, 4] The diagnostic journey may require genetic testing and the expertise of clinical geneticists and genetic counselors.
Although rare diseases cannot generally be prevented or cured, individuals with a rare disease need a diagnosis to access the most appropriate care. That requires healthcare providers to adhere to rare disease diagnostic pathways, which set out a clear process for clinicians to follow to obtain a diagnosis and guidance for post-diagnostic care.
The Tasmanian Clinical Genetics Service (TCGS) within the Tasmanian Department of Health received AUD 250,000 funding from Australian Genomics to develop a rare disease diagnostic care pathway for Tasmania. It included a community needs assessment followed by the co-development of innovative regional service models in 2022-23.
The Approach
TCGS engaged Abt to implement the project, which involved reviewing existing program documentation and relevant literature on rare disease diagnostic care pathways. The project also conducted qualitative interviews with 21 Australian clinicians, researchers, and administrators working in and with expertise in rare diseases to obtain professional input.
In addition, Abt interviewed community reference groups, conducted online community surveys receiving 880 valid responses, invited 63 community members to a focus group, and consulted eight advocacy organisations.
Abt used both the professional and community stakeholder input to develop the model of care components.
The Results
The review made short-, medium-, and long-term recommendations for improving the diagnostic journey for people with a rare disease in Tasmania.
The project recommended that the Tasmanian Government consider the establishment of a Tasmanian Rare Care Centre. This centre would be a single point of care for people with rare disease to avoid siloed health care.
The final report can be found here: https://www.australiangenomics.org.au/projects/improving-diagnostic-pathways-for-rare-diseases-in-regional-australia/