Workshop 2- "Feedback from the 15 National Conferences on Centres of Expertise"

Editor's Notes

• #3 1 The EUROPLAN Conferences introduced two essential policy reference texts into the national debate: the Commission Communication and the Council Recommendation on Rare Diseases. Participants familiarised with their content via the preparatory work to the Conference, the Workshop presentations, the discussion in Workshops and in plenary. This helped them to realise that a wider, European framework is being shaped which is having an impact on the advancement of the national policy on RD. While the Conferences maintained an undoubtedly national perspective, the European documents and, in particular, the consciousness of being part of a European “global” experience proved to be instrumental in producing momentum around the debate and in raising interest of national stakeholders. The Conferences, therefore, played an important role to let the national RD communities understand that: 1. an underlying EU strategy exists, which is supported by those two key documents and strengthened by the EUROPLAN Recommendations; and 2. national efforts are “embedded” into a more comprehensive and long-term approach which integrates the EU and the national level. 2 The National Conferences largely “validated the EUROPLAN's tremendous work in setting the theoretical ground” for the Conferences themselves. Whether or not the climate for development of a National Plan was set prior to the National Conferences, the latter raised great interest of patients and their families, local patient organisations, medical professionals. Overall, the EUROPLAN initiative was seen by all stakeholders as an important and successful step towards the establishment of a National Strategy for Rare Diseases in their countries by 2013. The Workshop-based structure of the Conferences and the guideline questions helped to permeate the national debate with the specific indications of the EU Council Recommendation and of the EUROPLAN guidelines and to tackle the main themes of the RD policy one by one and in great detail. As a result, as for their transferability of the EUROPLAN Recommendations it can be concluded that they have been integrated into the debate and the language of stakeholders participating to the Conference, “the EUROPLAN questions” Altogether, the EUROPLAN Recommendations were endorsed and in many cases complemented by the national audiences
• #4 PATIENT-RUN AND MULTI-STAKEHOLDERS. The EUROPLAN National Conferences have been organised in close collaboration with the EURORDIS’ Council of National Alliances, by patient associations at national level: 14 EURORDIS National Alliances and 1 Foundation for RD. the organisers had a clear mandate to involve all relevant national stakeholders in the field of RDs. These included patients and their families, representatives of patient organisations and national alliances, public authorities, academics and scientists, healthcare professionals, medical societies, industry, carers and social workers, insurers, etc. This varied participation was reflected in the thematic Workshops of the Conferences and in the membership of the Steering Committees organising the Conferences, as it was made mandatory to have a collegial body taking the main decisions on the national event. This methodological choice derived from a clear goal: to make sure that all interests at stake in each country were closely involved in the debate that should eventually lead to advance the national policy on RDs.   EU AND NATIONAL LEVEL. In order to face the challenge of the transferability of the EU Recommendations , it was felt necessary to maintain a supranational coordination while ensuring a close touch with the national situations . This was made possible thanks to EURORDIS national member associations, its ‘National Alliances’. In actual fact, EURORDIS, in charge of ensuring the overall coordination, worked with 6 Advisors selected among engaged patient representative active within their National Alliance:   Each of them was in turn responsible of supervising the organisation of 2 or 3 National Conferences. They also liaised with the Conference organisers on a regular basis, being their key contacts throughout the entire project; liaised with EURORDIS and among themselves to exchange best practices; supervised the agenda setting; contributed to develop common documents. In brief, the Advisors played an essential intermediary role between the national and the European level. Both the National Alliances and the Advisors were selected following ‘Expressions of Interest’, in response to which EURORDIS asked the candidates to demonstrate their willingness and ability to perform the tasks requested
• #5 RESULT-ORIENTED . the Conferences were aimed at formulating concrete proposals, rather than presenting a description of the status quo. The Conference, therefore, were given a proposed format (see below) conducive to deliver suggestions to improve the existing country policy on RDs, while analysing the transferability of European guidelines in the national system. This assessment results from the collection of the evaluation carried out at the end of each Workshop and included in the Workshop reports.
• #6 With no doubt, the Conferences were also an important opportunity to map out the situation in the country, given the invaluable chance of having all stakeholders sitting around the same table. Nevertheless, as it shown in the second part of this , the Conferences were above all a source of propositions covering all relevant areas of RD policy. Mapping out CoE (Centres of Expertise) is a necessary exercise, prior to any planning on CoE. This is to recognise that in basically all countries expertise on rare diseases does exist. This expertise is, however, not always easy to find, not systematically and sufficiently funded and neither officially defined or identified as a Centre of Expertise. The creation of a Directory of Centres of Expertise is important to make expertise available in the country known, hence more accessible to patients. The attribution of competences between the more specialist centre (often far from the patient’s domicile) and the local level of care, is debated everywhere
• #7 The EUROPLAN National Conferences called uniformly for common quality standards for the designation and the accreditation of CoE . The Rare Disease Task Force recommendations on CoE (2006) were evoked, as well as the EURORDIS Declaration (2008).
• #9 In smaller countries , where the establishment of CoE for all diseases would be too complex and expensive, networks of medical experts could be established dealing with RDs, while promoting cross-border cooperation at the same time. All-disease centres are not the most popular solution . In decentralised systems or in larger countries , systems of ‘vertical referrals’ (local/regional/national) are often in place or recommended. From the regional/national centres or hospital, patients are referred to central/national CoEs where diagnostic test are performed, specialised treatment is offered, whereas the daily care is left with the centres in the proximity of the place of living. Sometimes (e.g. the French Competence Centres) intermediary levels are introduced e.g. hospitals able to ensure some of the main tasks of a CoE. Referral to a CoE in another EU country could be the ultimate step of the vertical referral system, when the necessary expertise is not found in the country of origin. Particularly in bigger countries, the creation of networks of CoEs is also supported, which reflects the needs to share scattered information and expertise throughout the countries, where more poles of expertise are susceptible of being created. A system based on networks of CoEs also helps to optimise resources by reducing redundancies or filling gaps. Finally, in response to the need for proximity of care, it is suggested that structures (such as information platforms or tools), able to functionally connect the CoE with the other structures involved in the continuity of patients’ care, be developed . This coordination structures should coordinate day-to-day care within an acceptable travel distance and expert care (diagnosis, establishing a care plan, regular check-up, certain emergencies, etc.) provided in CoE
• #10 Integration between medical and social levels must be strengthened further, with a necessary reinforcement of the social level . Social counselling and social services should be provided at the CoE. Social support in the proximity of the place of living should be equally ensured. The involvement of patient organisations in social counselling is essential and they should be systematically involved.   Services acknowledged as fundamental for Centres of Expertise to provide should be recognised and reimbursed . This include healthcare services and those other services and activities which go beyond the treatment (purely healthcare services), but often are underperformed due to the lack of funds, reimbursement provisions, human resources or time. A promising example is the allocation in France, under the Second NP, of funds for certain activities performed by the CoE and recognised as “missions of general interest”. This allows creating resources for activities not strictly related to patient treatment, such as clinical research, production of guidelines for diagnosis and care; in-depth clinical and biological investigations; coordination of international networks, etc.  
• #11 Healthcare pathways are defined and adopted, based on best practices and expertise at national and international . This EUROPLAN Recommendation is entirely supported, with the addition of the proposal for the simplification and acceleration of procedures for the production of protocols for diagnosis and care.   “ Case managers” should dedicate their attention to individual cases and follow them all along the healthcare pathway . These would be coordinators and/or mediators who assist patients facing complex situations from a medical, social and/or administrative point of view. Their role would be helping to secure a coordinated and coherent coverage by available medical and social services, providing also assistance to get patients acquainted with their rights and get them through the administrative hurdles. Such initiatives are aimed to fulfil the urging needs of patients and families in their daily lives, which is often the most difficult part of living with a rare disease.   Mechanisms should be found to recognise and reimburse the interventions of paramedical and other specialist professionals involved in the care of RD patients . Taking charge of rare pathologies implies sometimes the involvement of health professionals whose outclinic acts are not covered by the sickness insurance. Such is the case, for example, with dieticians, psychologists, physiotherapists, etc. In order to better value the work of these professional specialties, their interventions should be integrated into the reimbursement schemes, provided that they are prescribed by the CoE. Procedures for reimbursement should be accelerated and simplified.
• #12 Promoting the participation of CoEs in European Reference Networks (ERN) should be integrated in the NP and become a quality criterion of the performance of each CoE. This was a recurring message of the National Conferences, to the extent that is many cases it was specified that the participation to European-level networks is the only way forward to assure sustainable progress in the RD field. In order to attract CoEs, ERN should provide resources, such as biobanks or registries, which demand strong networking. It was also underlined, however, how time-consuming (and resource consuming) are the international networking activities. European funding should be considered to finance them The mobility of patients appears a concern principally in small countries where the existing resources cannot cover all RDs .In t his policy lays down the basis of the future organisation of healthcare services in the European Union and grant new rights to patients to take advantage of being European citizens. While the Directive applies broadly to health and all diseases in general, it recognises rare diseases for its specificities (rarity of expertise, rarity of patients, limited knowledge and therapeutic interventions) requiring specific measures to organise and disseminate this expertise at the European level – through the European Reference Network – and to support easier patient mobility across EU to access quality diagnosis and care, when needed. These new avenues are extremely important for the coming years and for the long term
• #13 Screening policies must be supported by solid legal frameworks and by reliable implementation and evaluation policies. The case of Romania, where a dedicate session of the Workshop focused on screening, showed how in actual fact the lack of resources such as appropriate screening centres, or the lack of consistent application of the policy, create important gaps in detection of RDs and delays/mistakes in diagnosis. Screening policies should be therefore accompanied by evaluation procedures to assess the quality and performance of the programmes.   Current neonatal screening programmes should be extended, with the help of international exchanges on the effectiveness and regulations . This recommendation stemmed from some of the National Conferences where the issue was debated. Outcomes of the EC-funded project on neonatal screening of RD in Europe, which aims at issuing recommendations for good practices, is awaited