Patient perspectives on rare diseases

24 March 2009

The European Organisation for Rare Diseases, EURORDIS, is a patient-driven alliance of patient organisations and individuals active in the field of rare diseases, many of which are genetic disorders. The organisation has been conducting a series of surveys as part of the Eurordis Survey Programme, which aims to contribute to the establishment of guidelines and standards for the management of rare diseases throughout Europe. Summaries of the findings from two of these surveys have been published in a book - The Voice of 12,000 Patients (reported by the Lancet).

The Eurordis Survey Programme has conducted three surveys since 2003, aimed at gathering patient views on the diagnosis and access to health services for 18 rare diseases across 22 European countries. The first survey – EurodisCare1– was designed to measure the differences between European countries on rare disease care, focusing on diagnosis, treatment, level of knowledge and need and provision of services for rare diseases. EurodisCare2 was launched to identify the main causes that lead to delays in diagnosis and subsequent treatments and their preventable consequences. The final survey, EurodisCare3, was carried out in order to gather patient perspectives that would inform recommendations for the creation and development of National Centres of Expertise and a European Reference Network that would address the unmet needs of patients. The findings of these surveys reflect the challenges faced by patients in a quantitative way, such as the number of misdiagnosed patients (40%) and the number of patients who reported waiting between 5 and 30 years from the appearance of the first symptoms to receiving the correct diagnosis (25%). It is hoped that the book will be of benefit to stakeholders as well as patients and contribute to “shaping patient-centred public health policies” (see The Voice of 12,000 Patients).

Diagnosis of rare diseases is often difficult due to their broad diversity and spectrum of symptoms. Recently, the US based National Centre for Genome Resources (NCGR) and Beyond Batten Disease Foundation have announced a partnership in order to develop a multiplex screening test for over 75 rare diseases (see press release). It is still undecided yet what platform will be used for testing, i.e. microarray or next-generation sequencing. However, the Foundation is hoping that this screening test will help eradicate Batten disease.

Rare diseases are those with low prevalence (affecting fewer than one in 2000 individuals) and are often characterised by chronic, degenerating conditions. Approximately 80% of these diseases have an identified genetic origin; others can be a result of infections or environmental influences. However, these diseases are often difficult to diagnose due to the diversity of disorders and this can lead to inaccuracies in the management of patients. In addition, due to the rarity of these conditions, specialist services for their care can be lacking. Endeavours like the Eurordis survey are important in gathering patient views in order to understand gaps in health service provision which can inform improvements care.

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