Policy recommendations for rare disease centres of expertise.
OBJECTIVE
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.


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.
European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France; NHS England, London, UK. Electronic address: ahmed.sy3d@gmail.com.
Ahmed M
AM
Syed
European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France.
Rob
R
Camp
University of Southern Denmark, Unit for Health Promotion Research, Niels Bohrs Vej 9, DK-6700 Esbjerg, Denmark.
Christina
C
Mischorr-Boch
European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France.
Francois
F
Houÿez
University of Southern Denmark, Unit for Health Promotion Research, Niels Bohrs Vej 9, DK-6700 Esbjerg, Denmark.
Arja R
AR
Aro
D001291:Attitude of Health Personnel; D017028:Caregivers / Q000523:psychology / Q000592:standards*; D003697:Delphi Technique; D003718:Denmark; D006291:Health Policy; D006302:Health Services Research / Q000379:methods / Q000458:organization & administration / Q000592:standards*; D006801:Humans; D010358:Patient Participation; D011785:Quality Assurance, Health Care / Q000379:methods / Q000592:standards*; D035583:Rare Diseases; D011795:Surveys and Questionnaires; D006113:United Kingdom
Centre of expertise; Delphi technique; European reference network; Health policy; Rare disease