Policy recommendations for rare disease centres of expertise

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doi:10.1016/j.evalprogplan.2015.03.006

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Highlights

The results of the study suggest:

•: A need to make improvements within current CoE environments.
•: Improve access to CoEs.
•: Improve coordination and cooperation of services within and outside CoEs.
•: 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.

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.

Keywords

Rare disease;
Delphi technique;
Health policy;
Centre of expertise;
European reference network

: Corresponding author at: NHS England, Area 6B, Skipton House, 80 London Road, London SE1 6LH, UK. Tel.: +44 7552387934.

Ahmed M. Syed is a public health specialist with extensive experience in public health research and practice focusing on policy and strategy development.

Rob Camp has been a patient advocate since 1991 and has worked in patient treatment access and information in areas as varied as HIV, viral hepatitis and rare diseases. He is now focused on health education and information to a broader-based public.

Christina Mischorr-Boch is a nurse with a Master of Science degree in Public Health with experience in quality development and user perspective in health care systems.

Francois Houÿez is a patients’ advocate since 1989, with special emphasis on health policies, regulatory affairs, access to treatments, in various diseases areas such as AIDS/HIV and rare diseases. His current interest lies in benefit/risk evaluation of medicines and health technology assessment.

Arja R. Aro is Professor of Public Health (PhD and DSc), and Head of the Unit for Health Promotion Research, University of Southern Denmark. She has extensive experience with research on health policy development as well as with patient and citizen perspectives in health and health care.