Navigating diagnostic pathways for rare diseases in regional Australia

31 July, 2024 by genomics

It is no surprise that rural, regional and remote areas of Australia struggle with access to health services. But when it comes to genetic services and rare diseases, these barriers are even more pronounced.

A new Australian Genomics study led by Dr Mathew Wallis and centred on Tasmania sheds light on the diagnostic pathways for rare diseases in regional Australia and recommends actions to overcome some of the barriers.

With more than 7000 known rare diseases worldwide, about 80 percent of which have a genetic basis, the collective impact is significant despite the individual rarity of each condition.

The study’s final report states that between 35,000 and 45,000 Tasmanians are affected by a rare disease, with a parallel study (in press) indicating that rare diseases may account for some 20 per cent of Tasmania’s hospital costs.

“The long diagnostic delays often experienced by patients and misdiagnosis, which is common, lead to poor health outcomes and inefficient health care expenditure. These issues are exacerbated in rural and regional populations like Tasmania’s,” the report says.

More than 850 patients and carers affected by rare disease in Tasmania participated in the research, along with clinicians, advocates and experts in rare disease. The study was supported by the Tasmanian Clinical Genetic Services within that state’s Department of Health.

It proposes a range of actions to address access to information, access to the health system, the knowledge and attitudes of clinicians, coordination and integration of care, timely and appropriate investigations, access to research-based treatments, and access to support.

A key recommendation is the establishment of a Rare Care Centre, a one-stop shop for clinicians and patients seeking information and support. The Centre would enable access to multi-disciplinary clinical teams to coordinate diagnostic and post-diagnostic care; facilitate access to research-based treatment, and support services.