The process that healthcare professionals and their laboratory team and services designers go through to determine diagnosis is very much shaped by commonalities. The tests for the big diseases are discovered first, doctors are much more aware of them, and healthcare services are designed to incorporate significant support for these patients. Patients with rare diseases can often get a hard deal.
A recent study published in Orvosi hetilap looked at the differences in diagnostics delay between Europe and Hungary. The detailed nature of these results not only highlighted the well-known issues around rare diseases, but also the wider issues around spread of services. In the EU, 26% of patients got diagnosis outside of the area they live in. 35% found delivery of diagnosis unnecessary and up to 20% found the personal expense too high.
The model of rare disease diagnosis, care and treatment is complex and in stark contrast to the services covered by primary care. In order to have the patient population needed to sustain services, the area covered by each service needs to be large. These services cannot be commissioned by GP practises or even on a Trust level (using the NHS example). Rarely can they work on a SHA scale. So the NHS developed Specialist Commissioning Groups for these rare disease services. With the other issues highlighted such as delivery of diagnosis, and the unacceptable high personal expense of delayed diagnosis, it is important that these patients can receive very specialised care they need from staff well trained and practices in delivering that. Centralised care is not the answer to all health issues, but is a very valid solution in the case of rare diseases