Rare diseases – why have they become a priority in the healthcare policies of the EU countries?

Improvement in the standards of care for patients suffering from rare diseases has recently been raised as an issue by the European Union authorities. Over the last few years, several bodies, organisations and initiatives have been established which will focus on the introduction of national strategies for rare diseases, including the three-year EUROPLAN project, aimed at promoting the implementation of national plans/strategies to deal with rare diseases in the EU countries. Bulgaria and the Czech Republic recently became the first countries in Central and Eastern Europe (CEE) to adopt national strategies.

In the European Union rare diseases are defined as life threatening or chronically debilitating conditions which affect no more than five in 10,000 people. According to various sources, 5,000-8,000 rare diseases have been described so far. It is estimated that they affect about 6-8% of the population, and the number of patients affected in the European Union varies between 27 and 36 million. Three surveys carried out by Eurordis, a non-governmental alliance of rare disease patient organisations, revealed that all over Europe the most common problem reported by patients affected by rare diseases is a difficulty in obtaining adequate care, including a delayed or a misleading diagnosis, followed by inappropriate access to consultancy and treatment, resulting in frequently reported negative medical and non-medical consequences, along with a loss of patient confidence in healthcare systems.
The results of the EurordisCare2 survey¹ carried out on 5,980 rare disease patients from 16 different European countries confirm that the problems which these patients face in their healthcare systems are similar.

Polish healthcare system fails to provide adequate diagnosis of rare diseases
The results of the EurordisCare2 survey in Poland, which was the only CEE country to present complete data, seem to prove that the Polish healthcare system fails to provide its rare-disease patients with adequate and early diagnosis at a level comparable with those of the Western European countries.
About 9% of Polish patients reported having obtained a neonatal diagnosis in comparison with 15% overall in the survey, 41% in Belgium and 28% in Italy. The lower level of early diagnosis can be attributed to the lower number of neonatal screenings in Poland (1% in comparison with 4% overall in Europe) and fewer observations during pregnancy or at birth (3% in comparison with 7% overall).
Inaccurate diagnoses were reported by 47% of Polish patients, a result similar to countries such as Germany, Italy and Sweden, but a much higher figure than that of Spain: 30%. As a result of inaccurate diagnoses 78% of patients received inappropriate treatment, including 29% who received inappropriate medical treatment, 11% surgical treatment and 18% (in comparison with 7% overall) psychological or psychiatric treatment.

A significant percentage of Polish patients needed to undergo a complicated process of diagnosis, particularly with regard to the number of consultations and tests needed to obtain a diagnosis. 10-14% of Polish and Danish patients had to consult more than 20 physicians before obtaining the correct diagnosis, whereas 80-87% of respondents in France, Switzerland and the Netherlands reported having consulted up to five doctors.
Polish patients frequently reported having travelled to other regions to obtain a diagnosis – 48% in comparison with 26% overall. Approximately 10-20% of the Polish respondents claimed that obtaining the correct diagnosis was possible after a “substantial” or “very substantial” personal contribution. The result was similar to the average of all countries (10%), but much lower in comparison with the Netherlands (33%) and Belgium (29%). As a result of the delays and difficulties in obtaining a diagnosis, 93% of Polish families affected by rare diseases claimed that these were responsible for ruinous consequences, including a greater than average lack of confidence in medicine, along with cognitive, psychological and physical problems – and even death.

Room for improvement in Romania and Hungary
Access to various medical and social services is crucial to the provision of adequate care for rare disease patients because, in accordance with the EU definition, many of these diseases are complex, severe, degenerative and chronically debilitating, with a significantly reduced life expectancy. According to the EurordisCare3 survey,² carried out in 22 European countries on a group of 5,995 patients affected by 16 rare diseases, the average patient required more than nine different medical services, including frequent hospitalisation, routine checkups and diagnostic tests. The most frequent obstacles to the obtaining of adequate treatment reported by patients were: a lack of referral or lack of access to medical services, followed by lengthy waiting times, a significant distance to the treatment centre and substantial expenses paid by the patients themselves. EurordisCare3 showed that more than half of the European countries participating in the survey reported “difficult” or “very difficult” access to essential medical services in more than 15% of situations.
Similar results in some areas were reported for Hungary and Romania – the two CEE countries which participated in the survey – in which “unobtainable access” was reported by 10-15% of respondents. Access to the eight essential services for each disease was easy in 66% of cases in Hungary and 72% in Romania, but impossible in 13% of cases in Hungary and 10% of cases in Romania.

The survey also revealed sharp discrepancies in access to social services for rare disease patients in Hungary and Romania. More than 40% of Hungarian respondents reported having experienced either “difficult” or “impossible” access to social services, in contrast to fewer than 10% of Romanians who claimed this. The survey revealed poor social care provision in Hungary, as 20% of Hungarian families which required social services, in comparison with 4% of the countries overall, reported having failed to receive social assistance, 58% (in comparison with 27% overall) received assistance with difficulty and only 23% (in comparison with 69% overall) received assistance easily. Furthermore, the Hungarian patients were less satisfied with the social services provided to them, with more than 40% claiming that they did “not at all” meet their expectations, whereas only 10-20% of Romanians said the same.

National strategies in Bulgaria and the Czech Republic – the first steps toward improvement in the standards of care for rare diseases
The three-year European Rare Disease National Plan Development Project (EUROPLAN) has been launched to support and coordinate the implementation of a European Council Recommendation on action in the field of rare diseases, aimed at the adoption before the end of 2013 of national plans and strategies to deal with rare diseases. In this the Council advises EU member states to establish and implement plans or strategies for rare diseases at the appropriate level or to explore appropriate measures for rare diseases in other public health strategies, in order to ensure access to high quality care, including diagnostics, treatment, rehabilitation for rare disease patients and, if possible, access to effective orphan drugs.
The first CEE countries to have developed and implemented the strategies were Bulgaria (in 2009) and the Czech Republic, announced only in June 2010.
The 2010-2020 National Strategy for Rare Diseases in the Czech Republic outlines the introduction of better diagnostic and treatment methods, R&D and educational measures, support for maternity screening and patient organisations and the establishment of a new multi-faceted working group. A new National Co-ordination Centre for Rare Diseases is to be established at the Motol Faculty Hospital in Prague.
The National Strategy in Bulgaria includes the creation of a National Consulting Council for Rare Diseases (the NCCRD) within the Health Ministry, the establishment of expert panels for rare diseases working with national consultants, the establishment of a national network of information-reference centres for rare diseases, along with a national register of patients with rare diseases, and the creation of diagnostic protocols to facilitate diagnosis. The strategy also outlines a range of promotional and educational activities aimed at raising awareness of rare diseases in the country. As Central Europe Pharma News reported in 2009, as a part of the implementation of the rare diseases strategy Bulgaria’s National Health Insurance Fund (the NHIF) agreed to change the reimbursement system for rare and infectious diseases and to take over reimbursement expenses stipulated in Ordinance No. 34, which covers these diseases, starting from mid-2010. With a total budget allocated for medicines for rare and infectious diseases for 2010 of BGN 16m (€8.2m), the NHIF agreed to include drugs for Wilson's disease and Fabry’s disease in the reimbursement scheme. In addition to this, the Health Ministry announced that it was planning to allocate BGN 142m (€72.6m) for the treatment of rare and infectious diseases, funded directly through its budget, and not that of the National Health Insurance Fund (the NHIF). It is too early to assess the outcomes of the implementation of the national plan for rare diseases in Bulgaria, particularly given that, despite the additional funds, there have been frequent complaints from Bulgarian patient organisations about drug shortages and inadequacies in the arrangement of treatment for patients suffering from rare diseases.
It seems that Bulgaria is the most advanced of the CEE countries in the area of national strategy implementation. The national strategy in Romania is at an advanced stage of preparation, whereas the other CEE countries have either initiated or are about to take the first steps toward the creation of their own national strategies. National conferences to discuss EUROPLAN activities are scheduled in Hungary and Poland in the very near future.

Anna Skoczylas-Ligocka
Business Editor
PMR Publications
anna.skoczylas-ligocka@pmrpublications.com


________________________________________
[1] The survey was carried out between September 2003 and June 2006.
[2] The survey was carried out between May 2006 and April 2008.

Slovakia allocates further €5.7m within Operational Programme Health  2012-02-03

Bayer appoints new chief operating officer for Slovakia  2012-02-03

Czechs to invest over €150m in Center of Proton Therapy in Russia?  2012-02-03

Slovak state insurers increases payments for hospitals  2012-02-03

Threefold increase in Momina Krepost net profit in 2011  2012-02-03

Unipharm reports twofold growth in net profit in 2011  2012-02-03