Ahmed M Syed1, Rob Camp2, Christina Mischorr-Boch3, Francois Houÿez2, Arja R Aro3. 1. European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France; NHS England, London, UK. Electronic address: ahmed.sy3d@gmail.com. 2. European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France. 3. University of Southern Denmark, Unit for Health Promotion Research, Niels Bohrs Vej 9, DK-6700 Esbjerg, Denmark.
Abstract
AIM: Rare diseases are a serious public health concern and are a priority in the EU. This study aims to develop policy recommendations for rare disease centres of expertise (CoEs) in order to improve standards and quality of care. SUBJECT AND METHODS: A modified 3-round Delphi technique was used. Participants included rare diseases patients, carers, patient representatives and healthcare professionals (HCPs) from CoEs in two countries-Denmark and the UK. RESULTS: The results suggest the need to make improvements within current CoE environments, access to CoEs and the need for coordination and cooperation of services within and outside CoEs. It is recommended that CoEs are not overly 'medicalised', while at the same time they should be established as research facilities. The importance of including patient representatives in CoE performance management was also highlighted. Raising awareness and provision of appropriate training amongst non-specialist HCPs is seen as a priority for early and correct diagnosis and ensuring high quality care. Similarly, provision of targeted information about patients' illness and care was considered essential along with access to social assistance within CoEs. CONCLUSIONS: Policy recommendations were developed in areas previously recognised as having gaps. Their implementation is expected to strengthen and improve current care provision for rare disease patients. In member states where national plans and strategies are being developed, it is recommended to replicate the methodological approach used in this study as it has proven to be a helpful tool in rare disease centres of expertise policy development.
AIM: Rare diseases are a serious public health concern and are a priority in the EU. This study aims to develop policy recommendations for rare disease centres of expertise (CoEs) in order to improve standards and quality of care. SUBJECT AND METHODS: A modified 3-round Delphi technique was used. Participants included rare diseasespatients, carers, patient representatives and healthcare professionals (HCPs) from CoEs in two countries-Denmark and the UK. RESULTS: The results suggest the need to make improvements within current CoE environments, access to CoEs and the need for coordination and cooperation of services within and outside CoEs. It is recommended that CoEs are not overly 'medicalised', while at the same time they should be established as research facilities. The importance of including patient representatives in CoE performance management was also highlighted. Raising awareness and provision of appropriate training amongst non-specialist HCPs is seen as a priority for early and correct diagnosis and ensuring high quality care. Similarly, provision of targeted information about patients' illness and care was considered essential along with access to social assistance within CoEs. CONCLUSIONS: Policy recommendations were developed in areas previously recognised as having gaps. Their implementation is expected to strengthen and improve current care provision for rare disease patients. In member states where national plans and strategies are being developed, it is recommended to replicate the methodological approach used in this study as it has proven to be a helpful tool in rare disease centres of expertise policy development.