Rare disease patients burdened by costly delays and poor access

Diagnostics & MedTech News: Access to health services is a well-known challenge in rural, regional, and remote areas of Australia. Yet, when it comes to genetic services and rare diseases, these obstacles are even more pronounced, creating a significant barrier to care.

A new study by Australian Genomics, led by Dr Mathew Wallis, Clinical Geneticist and Clinical Director of the Tasmanian Clinical Genetics Service at Royal Hobart Hospital, sheds light on the diagnostic pathways for rare diseases in regional Australia. The project aligns with the Department of Health’s National Strategic Action Plan for Rare Diseases.

The research, supported by the Tasmanian Clinical Genetic Services, involved more than 850 patients and carers affected by rare diseases in Tasmania, as well as clinicians, advocates, and experts in rare disease.

Among the issues identified were a lack of access to GPs and specialists in regional and rural areas, poor coordination and communication between health professionals and from health professionals to patients, lack of knowledge about rare diseases among primary health clinicians and specialists, insufficient support for patients navigating a complex health system, and cost and travel barriers for some patients seeking a diagnosis.

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

Patient/carers identified that out-of-pocket costs during the diagnostic journey required significant financial outlay. Approximately 42% of respondents (152 of 358) had out-of-pocket expenses of more than $2,000, and 8% of respondents (28 of 358) had incurred out-of-pocket expenses over $10,000.

“Radiology now provides a log that we can access of how many scans we’ve had – it was surprising to see how many scans I’ve had – they are all expensive and some I feel were not necessary; the specialists don’t consider our financial position for affordability, and they need to do more comprehensive but fewer scans to reduce costs,” said one patient.

“I went ahead and got private health insurance when the diagnostic journey started but had the 12 months wait before we could claim any benefits; so seeing both public and private. we have hit the Medicare threshold and still out of pocket a large amount of money,” added another patient.

The study’s final report states that between 35,000 and 45,000 Tasmanians are affected by a rare disease. A parallel study indicates that rare diseases may account for approximately 20% of Tasmania’s hospital costs.

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 provide access to multi-disciplinary clinical teams to coordinate diagnostic and post-diagnostic care, facilitate access to research-based treatments, and offer support services.

“While the research centred on Tasmania, many of the findings and recommendations are relevant to other regional and rural areas of Australia,” the report stated.

There are over 7,000 known rare diseases globally, around 80% of which are genetic in origin. While each disease may be individually rare, their combined impact is substantial.

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