This work theme aims to identify actions which could improve access to higher-quality healthcare in rare diseases (RD), enhancing quality of life for patients. Healthcare here is defined very broadly and includes the entire continuum of services, from diagnosis to care and rehabilitation. Various initiatives across the EU Member States (MS), which address the quality of care for rare diseases, have been explored, with the aim of identifying and sharing good practices in healthcare. Special emphasis has been placed on activities relating to the Centres of Expertise. Furthermore, the factors influencing policy decisions pertaining to quality of care for RD have been examined, as well as assessing how healthcare systems organise themselves to accommodate RD policies and patients.
Case studies have been collected and examined in order to draw comparisons between the current provisions for RD healthcare in different MS. Data has been gathered from in-depth interviews with experts in the field, selected from across the MS and stakeholder groups.
Future outcomes include:
- Elaboration of a report regarding the actions of healthcare systems in the field of RD. with specific emphasis on producing higher-quality healthcare, including by linking national dedicated structures (i.e. centres of expertise) with all RD European Reference Networks.
- Evaluation of experts’ analyses of the actions of healthcare systems, including their criticisms and suggestions for improvement, paying particular attention to new questions and neglected aspects of Centres of Expertise and quality of care for RDs.
- Collection of proposed guidelines, strategies and good practices for ensuring quality of care for RD patients, and identification of additional areas where these are required.
- Translation of the findings into a practical set of recommendations for MS working on their original or revised national plans/strategies for RD, which should represent valuable feedback for MS seeking to improve their provision of RD care.
- Highlighting, for further study, any major issues revealed by this research that appear so far to have been overlooked by the RD community at large.
- Workshop on the preliminary outcomes of the survey on centres of expertise, (31 March-1 April 2014, Madrid) – organised through the EUCERD Joint Action N°2011 22 01
- Workshop: From Centres of Expertise to European Reference Networks – 11 & 12 May 2015, Madrid – organised through the EUCERD Joint Action N° 2011 22 01
- Realising European Reference Networks for Rare Diseases: a preparatory workshop for the RD field, 1-2 July 2015, Brussels – organised through the EUCERD Joint Action N°2011 22 01
- Workshop Report: Preliminary outcomes of the survey on centres of expertise, (31 March-1 April 2014, Madrid) –
- Summary workpackage report: Centres of expertise and quality of care for rare diseases (January 2015)
- Workshop Report: From Centres of Expertise to European Reference Networks – 11 & 12 May 2015, Madrid – organised through the EUCERD Joint Action N° 2011 22 01
Work theme leader:
Francesc Palau – The Centre for Biomedical Network Research on Rare Diseases (CIBERER) Spain
Francesc Palau is the Scientific Director of CIBERER. From its headquarters at the Príncipe Felipe Research Center, CIBERER embraces a cooperative network structure, encompassing 62 research groups in 28 institutions across Spain. CIBERER works closely with various stakeholders in the field of rare diseases, from healthcare workers to patients. This collaborative approach helps transfer the results generated by basic science into clinical practice, to improve the quality of life of those affected by rare diseases. He is trained in paediatrics and medical genetics and is also a Research Professor in the field of human genetics at the Spanish National Research Council (CSIC).
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