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Policy recommendations for rare disease centres of expertise
Evaluation and Program Planning 52 (2015) 78–84
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Evaluation and Program Planning journal homepage: www.elsevier.com/locate/evalprogplan
Policy recommendations for rare disease centres of expertise Ahmed M. Syed a,b,*, Rob Camp a, Christina Mischorr-Boch c, Francois Houy¨ez a, Arja R. Aro c a
European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France NHS England, London, UK c University of Southern Denmark, Unit for Health Promotion Research, Niels Bohrs Vej 9, DK-6700 Esbjerg, Denmark b
A R T I C L E I N F O
A B S T R A C T
Article history: Received 21 October 2014 Received in revised form 14 February 2015 Accepted 31 March 2015 Available online 16 April 2015
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. ß 2015 Elsevier Ltd. All rights reserved.
Keywords: Rare disease Delphi technique Health policy Centre of expertise European reference network
1. Introduction A rare disease (RD), also referred to as an orphan disease, is any disease with a particularly low prevalence. In the European Union (EU) a disease is classified as an RD when it affects less than 5 persons per 10,000 (EU CERD, 2011) on a population level. It is estimated that between 5000 and 8000 distinct RDs exist, affecting a total of between 6% and 8% of the EU population over the course of their lives (EU CERD, 2011). Although rare diseases are characterised by a low prevalence for each of them individually, the total number of people with a rare disease is estimated in the EU to be between 27 and 36 million (EU CERD, 2011).
* Corresponding author at: NHS England, Area 6B, Skipton House, 80 London Road, London SE1 6LH, UK. Tel.: +44 7552387934. E-mail address: [email protected] (A.M. Syed). http://dx.doi.org/10.1016/j.evalprogplan.2015.03.006 0149-7189/ß 2015 Elsevier Ltd. All rights reserved.
Rare diseases are a serious public health concern and are a priority in the EU (European Commission). Currently, in European member states (MS) and at a European level there is a need for robust strategies, plans and specific policies on rare diseases (European Commission, 2008). Few European countries have specialised provision of health services for rare diseases. Despite a significant EU population being affected by RDs healthcare systems in MS are not set up adequately to provide care for RD patients. In many European Union (EU) Member States (MS), RD patients are subject to marginalisation in classic healthcare systems designed for non-rare diseases (Kole & le Cam, 2010). As a result, they do not experience equal access to timely, high quality health services they deserve (Kole & le Cam, 2010). The restructuring of healthcare systems to better reflect the values of equity and solidarity amongst RD patients, professionals, and policy makers across Europe needs to be accomplished.
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EU health ministers recognise the challenges and need for action in the field of rare diseases which has led to developing a set of recommendations. The development of Centres of Expertise (CoEs) and European Reference Networks (ERNs) in the field of RD is encouraged in the ‘Council Recommendation on an Action in the Field of RD (2009/C 151/02) (8 June 2009)’ and most recently in the ‘Directive on the application of patients’ rights in cross-border healthcare (2011/24/EU) (9 March 2011)’ as a means of organising care for thousands of heterogeneous RD affecting scattered patient populations across Europe (Rodwell, Ayme´, & Bushby, 2012). The recommendations concentrate on supporting and strengthening EU countries’ plans and strategies for responding to rare diseases, improving recognition and visibility of rare diseases, encouraging more research into rare diseases and forging links between medical centres. No official definition of a RD CoE exists, however ideally they are medical centres that bring together a group of multidisciplinary, specialised competencies and ensure timely diagnosis and appropriate follow-up care by aiming to improve the continuity and coordination of care through the implementation of healthcare pathways and research (Kole & le Cam, 2010). A ERN is considered to be a physical or virtual networking of national RD CoEs to exchange knowledge and expertise at a European level. As part of the EC’s commitment to improving healthcare for rare disease patients, in 2008 a 3-year project called ‘POLKA: Patients’ consensus on preferred policy scenarii for rare diseases’ was funded and supported by the European Commission DG Sanco. The main objective of the POLKA project was to facilitate the consultation of the European rare disease community, with the aim of building consensus on preferred public health policy scenarios for rare diseases, including the quality of care available at RD CoEs, and if that level of quality was sufficient. In order to achieve the POLKA project’s objective of gathering expert advice and experience and building consensus on policies for Centres of Expertise on rare diseases, a study within POLKA called ‘The POLKA Delphi study’ was undertaken. This article presents the results of the POLKA Delphi study and the policy recommendations developed from them aimed at better provision of healthcare for RD patients in Europe. 2. Aims The aim of the POLKA Delphi study was to: Assess experiences of healthcare professionals (HCPs) and patients (including patient representatives and carers) at selected CoEs, identify policy areas with gaps for discussions on the current services and, develop policy recommendations based on findings in order to help improve care for rare disease patients across Europe.
3. Methods
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Policy Delphi, the Decision Delphi and the Group Delphi. The different forms of the Delphi such as the Policy, Decision and Group Delphi are variations of the classical Delphi. There are many more variations of Delphi now in existence known as ‘modified Delphi’ (McKenna, 1994) as researchers modify the Classic Delphi technique to suit their needs and few researchers nowadays see the need to use uniform methods. In order to meet the aims of the POLKA Delphi study a modified-Policy Delphi technique was employed. 3.2. The POLKA Delphi technique The POLKA Delphi study was planned to be carried out in RD CoEs from three countries—Denmark, the UK and France. The countries were chosen as their healthcare systems were amongst the most developed ones set up to provide specialised care for patients with rare diseases in Europe. In majority of the MS, there is a lack of specialised services for patients with rare diseases through specialist healthcare centres/CoEs. This paper presents results from Denmark and the UK as the French arm of the study encountered significant issues recruiting healthcare professionals. Fig. 1 illustrates the stages of the study reported here. The Delphi process consisted of 3 rounds. The first step of the Delphi process was the selection of participants for the Delphi panel followed by administering a questionnaire survey (Round 1). The results of the questionnaire survey were fed back to the participants and used to facilitate discussions at face-to-face meetings (Round 2). The results of both rounds were collated and used to develop policy recommendations. The draft policy recommendations were sent to participants for validation and sign-off (Round 3). 3.3. Participants A total of eight CoEs1, one in Denmark and seven in the UK, participated in the study. A contact person at each of the eight CoEs was identified to recruit a total of 160 participants as the Delphi panel and coordinate the study – 8 HCPs and 12 patients (or patient representatives and carers) per CoE – see Table 1. 3.4. Round 1: Questionnaire survey Two questionnaires, one for HCPs and one for patients, were developed by the authors (AMS & ARA) in collaboration with the POLKA project members with the aim of assessing the current experiences of healthcare professionals and patients at the centres of expertise. The questionnaires were based on the results of a survey called ‘Eurordiscare30 2 which gathered data on patients’ experience and expectations concerning health services for rare diseases in Europe. The majority of the questions asked in the HCP and patient questionnaires were similar except for a few which were specific to each group. The questionnaire for HCPs consisted of 46 questions and the questionnaire for patients consisted of 39 questions. Questions in both HCP and patients questionnaires were divided into the following 13 policy areas:
3.1. The Delphi technique A ‘Delphi technique’ is defined as ‘‘a method for structuring a group communication process so that the process is effective in allowing a group of individuals, as a whole to deal with a complex problem.’’ (Linstone & Turoff, 1975). It is based on the premise that ‘pooled intelligences’ which enhances individual judgment and captures the collective opinions of experts (Linstone & Turoff, 1975; Moore, 1987; Murry & Hammons, 1995). There are several types of Delphi. Based on a classification by van Zolingen and Klaassen (2003) they are the Classic Delphi, the
(i) (ii) (iii) (iv) (v)
Environment at CoEs, access to CoEs, coordination and cooperation within and outside CoEs, transition of care (childhood to adulthood), patient autonomy,
1 It should be noted that the CoEs are currently not ‘labelled’ as CoE and but are specialised health services provided at hospitals for rare disease patients. 2 Available at http://www.eurordis.org/IMG/pdf/voice_12000_patients/ EURORDISCARE_FULLBOOKr.pdf.
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Fig. 1. The POLKA Delphi process.
(vi) patient representatives and support groups at CoEs, (vii) provision of information to patients, (viii) raising awareness and training amongst healthcare and nonhealthcare professionals, (ix) patient-oriented and multidisciplinary care at CoEs, (x) social care assistance at CoEs, (xi) facilities for diagnosis of rare disease at CoEs, (xii) performance management of CoEs, (xiii) research at CoEs. The questionnaires were distributed by a contact person at each CoE. Participants were given a choice of replying to the questionnaire electronically using a web-based software ‘Survey
Monkey’ or by post if they opted for a paper version. For the Danish participants the questionnaires were translated from English into Danish. 3.5. Round 2: Face-to-face meetings Following the completion of round 1 of the POLKA Delphi study, the participants were invited to the face-to-face meetings which were organised at the CoEs (see Table 1)—7 in total (Alstro¨m Syndrome service from Birmingham Children’s Hospital and Torbay had a joint face-to-face meeting). Participants who replied to Round 1 questionnaire were invited. Each of the meetings was run by two facilitators who presented participants with the
Table 1 CoEs and participants invited for the POLKA Delphi study. CoE
Rare disease
City/country
The Centre for Rare Diseases (Center for sjældne sygdomme), Aarhus Universitetshospital Department of Genetic Medicine, Central Manchester University Hospitals Birmingham Children’s Hospital Torbay Hospital St. Thomas Hospital Newcastle NCG Mitochondrial Disease Service Birmingham Children’s Hospital St. Thomas Hospital
Various rare diseases
Skejby, Denmark
8
12
Neurofibromatosis Alstro¨m syndrome Alstro¨m syndrome Epidermolysis bullosa Mitochondrial diseases Epidermolysis Bullosa Xeroderma Pigmentosum
Manchester, UK Birmingham, UK Torbay, UK London, UK Newcastle, UK Birmingham, UK London, UK
8 8 8 8 8 8 8
12 12 12 12 12 12 12
64
96
Participants invited HCP
Total HCP = healthcare professional, patients = patients/patient representatives/carers.
Patients
A.M. Syed et al. / Evaluation and Program Planning 52 (2015) 78–84 Table 2 Participants in Round 1 (Questionnaire Survey).
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agreed to the recommendations developed with only a few minor edits being suggested which were taken into account.
Country
Health care professionals
Patients
Demark England Total
5/8 (62.5%) 45/56 (80%) 50/64 (78%)
12/12 (100%) 71/84 (85%) 83/96 (86%)
collated results of the Round 1 questionnaire survey and facilitated discussions by policy area. The participants were asked to give their opinions on the survey results, highlight what works well and identify areas of interest for discussion and suggest and agree on recommendations which would help improve the quality of the services and healthcare for patients. The meetings were recorded and the facilitators made notes of the responses and discussions at each of the meetings. These were analysed and combined to produce a summary of results for round 2. At the end of each face-to-face meeting at each CoE, volunteers were identified with whom the final report was shared for feedback and comments.
4. Results
4.4. Policy recommendations The policy recommendations developed in the POLKA Delphi study are listed below. The quotes presented below were selected from the questionnaire replies received and from those made at the face-to-face meetings. 4.4.1. Environment at CoEs ‘‘The sum of many small details eventually makes a great difference’’ The essential functions of a CoE should include provision of diagnosis, treatment and care in the rare diseases it specialises in. CoEs should be set up as separate units with dedicated staff providing multidisciplinary care for patients. They should not be overly-medicalised (i.e. where patients are not examined and treated without justification and patientfriendly in the sense of having rest areas, coffee, juices and tea, play areas for children, accommodate the needs of disabled patients etc.) and should be designed taking into account the needs of patients.
4.1. Round 1: Questionnaire survey A total of 133 participants, 50 HCPs and 83 patients from the eight CoEs participated in the study (see Table 2). All replies were received electronically except 11 which were sent by post. A summary of the replies by HCP and patients in each policy area from Denmark and the UK are presented in the following sections. For questions and detailed results including replies to open-ended questions, please contact the corresponding author. 4.2. Round 2: Face-to-face meetings A total of 34 HCPs and 31 patients participated in 7 face-to-face meetings carried out at each of the CoE listed in Table 3. There were 5 HCPs and 10 patients from Denmark and 29 HCP and 21 patients from the UK. 4.3. Round 3: Validation and sign off The results from the two rounds were collated and analysed in order to develop the resulting list of recommendations. In the final round of the POLKA study, all participants were sent the recommendations which were developed and requested to be commented and signed off. They were given 10 days to respond during which 79 responses were received. The responses in general
4.4.2. Access to CoEs ‘‘A red flag, a passport, a special card would help recognise the nature of the condition, provide informoation and contact details of experts (especially during an emergency)’’ Outreach clinics headed by CoEs should be established to minimise travel for patients and ensure continuity of care. Cross-border agreements between European member states should be set-up to allow European patients with no access to care in their own country to receive treatment at other European CoE where it is available.
4.4.3. Coordination and cooperation within and outside CoEs ‘‘The same law needs to be applied in the same way for everyone everywhere’’ Systems need to be established to ensure efficient exchange of patient information in the healthcare system (such as between GPs and specialists treating patients both within & outside the CoE) to ensure early, and accurate diagnosis and provision of efficient care. Systems need to be set up in order to ensure that patients are identified and moved appropriately through emergency services, such as immediate availability of important information about their condition and access to experts at CoEs during an emergency.
Table 3 CoEs and participants in Round 2 (face-to-face meetings). CoE
Rare disease
City/Country
Participants invited HCP
Patients
1. The Centre for Rare Diseases (Center for sjældne sygdomme), Aarhus Universitetshospital 2. Department of Genetic Medicine, Central Manchester University Hospitals 3. Birmingham Children’s Hospital and Torbay Hospital (1 combined meeting for participants from 2 CoEs) 4. St. Thomas Hospital 5. Newcastle NCG Mitochondrial Disease Service 6. Birmingham Children’s Hospital 7. St. Thomas Hospital
All rare diseases in Denmark Neurofibromatosis Alstro¨m syndrome
Skejby, Denmark
5
10
Manchester, UK Birmingham and Torbay, UK London, UK Newcastle, UK Birmingham, UK London, UK
5 3
2 7
2 7 7 6
5 5 0 3
35/64 (55%)
32/96 (33%)
Total HCP = healthcare professional, patients = patients/patient representatives/carers.
Epidermolysis bullosa Mitochondrial diseases Epidermolysis bullosa Xeroderma Pigmentosum
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4.4.4. Transition of care (childhood to adulthood) ‘‘A coordinator in partnership with the patient organisation can be a lifeline’’ The transition process should: Ensure transition of patients from paediatric care to adult care (including patient records) only when patient and/or carer feel ready, and for it to be an uncomplicated process. Consider any future needs of patients that may arise due to the condition. Be overseen by a transition coordinator. 4.4.5. Patient representatives and support groups at CoEs ‘‘As a carer of John for all his life, I will not be told to sit down over there and wait as if I am not part of the solution’’ Every CoE should be linked to a patient-led organisation for the condition(s) the CoE specialises in. 4.4.6. Provision of information to patients ‘‘As a patient who has been here for many years, I would gladly be in a phonebook to help any new patients get accustomed’’ Patients and their families should be regularly provided with information about their condition using appropriate channels and formats adapted for the target audience taking into account factors such as age, ethnicity, education level, etc. 4.4.7. Raising awareness and training amongst healthcare and nonhealthcare professionals ‘‘For the good of the patient, we (HCPs) cannot continue to work in silos’’ Training for HCPs such as GPs and other specialists, who are likely to come across rare disease patients. Training should be made mandatory (or offered as CPD or CME) to help ensure early detection, diagnosis and continuous appropriate management of rare diseases. HCPs (doctors, nurses and allied HCPs) should receive training to increase awareness, knowledge, and skills in order to ensure patients’ civil rights and their inclusion in care. Non-HCPs who come in contact with rare disease patients (for example school teachers, carers, employers, etc.) should be offered appropriate training. 4.4.8. Social care assistance at CoEs ‘‘There are few quick fixes. An on-site social worker is one of them’’ A dedicated social support worker/welfare officer with knowledge of the condition should be available at every CoE to help patients navigate the social care system. CoEs should have access to psychologists to provide counselling to patients, their carers and families. 4.4.9. Performance management of CoEs ‘‘There are many unknowns we (HCPs) don’t know about’’ Systems should be set up to performance manage CoEs with representation on committees from patients or patient organisations. 4.4.10. Research at CoEs ‘‘As a research centre, neurologists, dermatologists, geneticists, dentists, physiotherapists, ophthalmologists, psychologists are all at your fingertips’’ CoEs should: Establish themselves as research facilities, and include patient organisations in the design and execution of studies.
Ensure appropriate dissemination of research results to all stakeholders.
5. Discussion The POLKA Delphi study presents findings following innovative application of a sound research methodology by taking into account views of key stakeholders (healthcare professionals, patients, patient representative and carers) and achieving consensus to develop recommendations for RD CoEs in policy areas where gaps were identified. The results suggest the need for improvements to current CoE environments, facilitate easier access to CoEs and the need for coordination and cooperation of services within and outside CoEs. It is recommended that CoEs are not overlymedicalised, while at the same time establishing themselves as research facilities. The importance of including patient representatives in CoEs for their performance management was also highlighted. Raising awareness and provision of appropriate training amongst HCPs is seen as a priority for early and correct diagnosis and ensuring high quality care. Similarly, provision of targeted and easily accessible information about patients’ illness and care was considered essential along with access to social assistance at CoEs. Prominent CoEs are developing models of care that include patient representatives and social as well as educational support. The findings from this study along with experiences from such CoEs will be valuable to MS across Europe in putting together national plans and strategies for RD. Concentration of health care services for rare diseases in CoEs is not sufficient as recognised by the results of our study. It is recommended that outreach clinics headed by CoEs should be established to minimise travel for patients and also allow continuity of care locally. Similarly, Schultz, Schreyo¨gg, Stargardt, and Busse (2012) also highlight the need for effective outpatient health care structures to reduce patient’s time between the onset of a rare disease and the beginning of treatment. Another reason for delayed diagnosis of RDs is generally due to the fact that GPs lack awareness of rare conditions or are reluctant, because of cost considerations, to refer patients to a specialist, which is line with Wise (2012). This is likely the case also with other specialist doctors and HCPs. Findings of an Australian study showed that families caring for children with genetic metabolic disorders were adversely impacted by delays in diagnosis (Anderson, Elliott, & Zurynski, 2013). A solution to tackle these issues would be to set up systems of knowledge transfer from RD CoEs into the broader outpatient sector by collaborating with regional health care networks and generate knowledge for the RD CoEs as recommended by Schultz et al. (2012). This also allows for possibilities of providing training to HCP, using technology to establish diagnosis and developing quality standards and clinical guidelines for RDs. More should be done to help RD patients understand their illness and look after themselves. Experiences of patients in our study were that the Internet and social networking had significantly increased their ability to share experiences and learn from other patients. It also helps raise public awareness for their condition. Black and Baker (2011) report that Internet and social networking have also changed the effectiveness of patient advocacy groups for rare diseases. Therefore, these methods should be explored further in RD patient care. Our findings urge access to psychologists to provide counselling for patients, their carers and families. The need for the CoE to be linked to a patient-led organisation in order to provide access to support groups was also underlined. Anderson et al. (2013) found that lack of easy access to peer support groups and psychological support had an adverse impact on families, strengthening our recommendation further.
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In general, it is well recognised that individuals with RD face intrinsic inequalities in healthcare and in response to a 2010 recommendation by the European Commission, EU member states agreed to produce a strategy for RD. Although much success has been observed in the establishment of RD CoEs in several MS, several challenges for future national strategies on CoE remain (Kole & le Cam, 2010). Rarity of diseases can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations (Forman et al., 2012). It is emphasised that MS across Europe should work toward the establishment of RD CoEs as possibly the most crucial elements in the context of national plans and strategies. At present no clear definitions of a RD CoE exist, however it has been recognised that the concept of a RD CoE may need to be functional or virtual rather than geographical, and it would need to overcome the organisational restrictions that now block working across different health care providers and social care (Taylor & Karet Frankl, 2012). This is due to the fact that a RD patient may at different times require urgent management in a local hospital with advice from an external expert source; local monitoring in primary care while stable; or a one-off complex procedure that is provided only in one or two specialist institutions in the country (Taylor & Karet Frankl, 2012). It is essential to provide integrated services across the health economy for seamless care for RD patients, although it is unclear how it should be commissioned and funded and is likely to vary across MS. In addition to providing an added value to the quality of local healthcare services, CoEs are also key facilitators for research on rare diseases, and support the optimisation of healthcare spending in the current economic climate (Kole & le Cam, 2010). The Delphi technique allowed bringing together a reasonably large number of participants for the study despite being geographically dispersed and required minimum resources. It must be noted that the majority of the study participants were from the UK which might be a limitation to the results of the study as UK recommendations might have been voiced more strongly compared to the Danish ones. This issue arises due to having separate face-to-face meetings in the two countries. It would have been ideal to have one face-to-face meeting for all participants rather than 7 (6 in the UK and 1 in Denmark) which would probably have resulted in a more constructive debate and equally voiced policy recommendations. However, this was not possible for three reasons, first because we were unable to coordinate patients to one venue given the severity of their conditions and ability to travel long distances, second because it was not possible to get availability of all HCPs on a given date and thirdly due to language. These are also the reasons why the proportions of participants in round 2 was lower (55% HCPs and 33% patients), although this did not impact on the results of the overall findings. In the UK, it was a challenge to coordinate a face-to-face meeting in seven CoEs. Previous reports of the Delphi technique in developing international policy options have shown it to be a positive experience (Syed, Hjarnoe, & Aro, 2009). This analysis of national plans and strategies on RD in Europe shows that a few countries have already set up national plans. Existing national plans show a good consistency, but also at quite different stage of progress, depending on start date as well as on resource allocation (Taruscio, Vittozzi, & Stefanov, 2010). It is suggested that studies similar to the POLKA study should be undertaken in each MS where national plans and strategies as the approach used in the POLKA Delphi study has a number of strengths including the ability to engage key stakeholders, thus ensuring policies are developed keeping those
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receiving and delivering healthcare at the centre. Most of the faceto-face meetings also suggested that regular reviews of polices and plans should be undertaken in order to assess whether recommendations made have been implemented, if implemented have they worked and also to see if they need to be adapted. In Europe, CoEs are moving towards adopting a multi-disease and multi-disciplinary approach in order to dispense comprehensive and expert care to rare disease patients, as well as to save resources and money in these times of shrinking health budgets. The 7 UK CoEs included in the study were disease-specific while the Danish CoE treated patients with all rare diseases. Regardless of the different CoE models, no differences in the results between the two countries were noted. This suggests the policy gaps are independent of the CoE model or disease type. The recommendations presented in the study will enable improvement in the care of rare disease patients at CoEs regardless of these factors. However, to benefit from improved care at CoEs, access to them is fundamental. Further research is needed to establish patient care pathways and health care delivery for all RD patients, especially those currently not accessing them. 6. Conclusion A number of 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. Conflict of interest statement None. What this paper adds Rare diseases are a serious public health concern and are a priority in the EU. The development and establishment of Centres of Expertise (CoEs) and European Reference Networks (ERNs) is recommended, however there is a lack of policy recommendations for CoEs and ERNs. This study assesses experience of HCPs and patients at existing UK and Danish CoEs, identifies policy areas with gaps and uses this information to develop policy recommendations in order to improve care for rare disease patients.
Acknowledgements This work was done as part of ‘Patients’ Consensus on Preferred Policy Scenarios for Rare Diseases (POLKA)’, a European Commission project funded under EU Health Programme 2008–2013: Project No 2007330. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein. The authors would also like to thank the patients and their carers who participated in the study and express thanks to the individuals listed below who helped coordinated the study: Edmund Jessop (Advisor, National Commissioning Group NCGNHS), Lene Jensen (Rare Disorders Denmark and POLKA Work Package 4 leader), Leif Jiskoot (PlayDecide Project Coordinator, EURORDIS), Anna Kole (POLKA Project Co-ordinator, EURORDIS), Celia Moss (EB Team, Dermatology Department, Birmingham
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Children’s Hospital NHS Trust), Jemima Mellerio (Consultant Dermatologist, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Trust, London UK), Sue Huson (Genetic Medicine Consultant, Manchester Academic Health Science Centre, St Mary’s Hospital, Manchester UK), Anna Martinez (Consultant Paediatric Dermatologist, Great Ormond Street Hospital, London UK), Adrian Heagerty (Consultant Dermatologist, Torbay Hospital, Lawes Bridge, Torquay, UK), Richard Paisey (Consultant Diabetologist, Torbay Hospital, Lawes Bridge, Torquay, UK), Robert PE Sarkany (Consultant Dermatologist and Service Lead of NCG XP Service) David McGibbon (CNS in Xeroderma Pigmentosum, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, UK), D.M. Turnbull (Professor of Neurology, Director Centre for Brain Ageing and Vitality, Mitochondrial Research Group, Newcastle University UK), Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, UK, Kay Parkinson (Chief Executive, Alstrom Syndrome UK), Sandra Webb, XP Support Group, Instron House, Coronation Road, High Wycombe, Buckinghamshire, John Dart (Chief Operating Officer, DEBRA UK, DEBRA International). References Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013). Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8(Feb (1)), 22. Black, A. P., & Baker, M. (2011). The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example. Epilepsia, 52(Suppl 2), 102–104. European Union Committee of Experts on Rare Diseases (EU CERD) (2011). Report on the state of the art of rare disease activities in Europe of the European Union Committee of experts on rare diseases. hhttp://ec.europa.eu/health/rare_ diseases/docs/eucerd2011_report_state_of_art_raredis_activities_1.pdfi (accessed 16 June 2014). European Commission (2008). Communication from the commission to the European parliament, the council, the European economic and social committee and the committee of the regions on rare disease challenges. hhttp://ec.europa.eu/health/ ph_threats/non_com/docs/rare_com_en.pdfi (accessed 16 June 2014). Forman, J., Taruscio, D., Llera, V. A., Barrera, L. A., Cote´, T. R., Edfja¨ll, C., et al. (2012). International conference for rare diseases and orphan drugs (ICORD). The need for worldwide policy and action plans for rare diseases. Acta Paediatrica, 101(8), 805–807. Kole, A. A., & le Cam, Y. (2010). The added value of centres of expertise for rare disease patients in Europe. Orphanet Journal of Rare Diseases, 5(1), O4.
Linstone, H. A., & Turoff, M. (1975). The Delphi method techniques and applications. Reading, MA: Addison-Wesley. McKenna, H. P. (1994). The Delphi technique: a worthwhile research approach for nursing? Journal of Advanced Nursing, 19, 1221–1225. Moore, C. M. (1987). Group techniques for idea building. Thousand Oaks,CA: Sage Publications. Murry, J. W., & Hammons, J. O. (1995). Delphi: A versatile methodology for conducting qualitative research. Revolution of High Education, 18, 423–436. Rodwell, Charlotte, Ayme´, Se´gole`ne, & Bushby, Kate. (2012). Scope of centres of expertise for rare diseases in European countries where they exist. Orphanet Journal of Rare Diseases, 7(Suppl 2), A5. Schultz, C., Schreyo¨gg, J., Stargardt, T., & Busse, R. (2012). Focus on designing health care structures and services for rare diseases. Health Policy, 105(2-3), 107–109. Syed, A. M., Hjarnoe, L., & Aro, A. R. (2009). The Delphi technique in developing international health policies: experience from the SARScontrol project. Internet Journal of Health, 8(2).. Available at: https://ispub.com/IJH/8/2/6223 Taruscio, D., Vittozzi, L., & Stefanov, R. (2010). National plans and strategies on rare diseases in Europe. Advances in Experimental Medicine and Biology, 686, 475–491. Taylor, C. M., & Karet Frankl, F. E. (2012). Developing a strategy for the management of rare diseases. BMJ, 12(344), e2417. Wise, J. (2012). Rare diseases are overlooked by doctors, policy makers, and guidelines, says think tank. BMJ, 28(345), e6604. van Zolingen, S. J., & Klaassen, C. A. (2003). Selection processes in a Delphi study about key qualifications in senior secondary vocational education. Technological Forecasting and Social Change, 70, 317–340.
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 Houy¨ez 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.
Contents lists available at ScienceDirect
Evaluation and Program Planning journal homepage: www.elsevier.com/locate/evalprogplan
Policy recommendations for rare disease centres of expertise Ahmed M. Syed a,b,*, Rob Camp a, Christina Mischorr-Boch c, Francois Houy¨ez a, Arja R. Aro c a
European Organisation for Rare Diseases, 96 rue Didot, 75014 Paris, France NHS England, London, UK c University of Southern Denmark, Unit for Health Promotion Research, Niels Bohrs Vej 9, DK-6700 Esbjerg, Denmark b
A R T I C L E I N F O
A B S T R A C T
Article history: Received 21 October 2014 Received in revised form 14 February 2015 Accepted 31 March 2015 Available online 16 April 2015
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. ß 2015 Elsevier Ltd. All rights reserved.
Keywords: Rare disease Delphi technique Health policy Centre of expertise European reference network
1. Introduction A rare disease (RD), also referred to as an orphan disease, is any disease with a particularly low prevalence. In the European Union (EU) a disease is classified as an RD when it affects less than 5 persons per 10,000 (EU CERD, 2011) on a population level. It is estimated that between 5000 and 8000 distinct RDs exist, affecting a total of between 6% and 8% of the EU population over the course of their lives (EU CERD, 2011). Although rare diseases are characterised by a low prevalence for each of them individually, the total number of people with a rare disease is estimated in the EU to be between 27 and 36 million (EU CERD, 2011).
* Corresponding author at: NHS England, Area 6B, Skipton House, 80 London Road, London SE1 6LH, UK. Tel.: +44 7552387934. E-mail address: [email protected] (A.M. Syed). http://dx.doi.org/10.1016/j.evalprogplan.2015.03.006 0149-7189/ß 2015 Elsevier Ltd. All rights reserved.
Rare diseases are a serious public health concern and are a priority in the EU (European Commission). Currently, in European member states (MS) and at a European level there is a need for robust strategies, plans and specific policies on rare diseases (European Commission, 2008). Few European countries have specialised provision of health services for rare diseases. Despite a significant EU population being affected by RDs healthcare systems in MS are not set up adequately to provide care for RD patients. In many European Union (EU) Member States (MS), RD patients are subject to marginalisation in classic healthcare systems designed for non-rare diseases (Kole & le Cam, 2010). As a result, they do not experience equal access to timely, high quality health services they deserve (Kole & le Cam, 2010). The restructuring of healthcare systems to better reflect the values of equity and solidarity amongst RD patients, professionals, and policy makers across Europe needs to be accomplished.
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EU health ministers recognise the challenges and need for action in the field of rare diseases which has led to developing a set of recommendations. The development of Centres of Expertise (CoEs) and European Reference Networks (ERNs) in the field of RD is encouraged in the ‘Council Recommendation on an Action in the Field of RD (2009/C 151/02) (8 June 2009)’ and most recently in the ‘Directive on the application of patients’ rights in cross-border healthcare (2011/24/EU) (9 March 2011)’ as a means of organising care for thousands of heterogeneous RD affecting scattered patient populations across Europe (Rodwell, Ayme´, & Bushby, 2012). The recommendations concentrate on supporting and strengthening EU countries’ plans and strategies for responding to rare diseases, improving recognition and visibility of rare diseases, encouraging more research into rare diseases and forging links between medical centres. No official definition of a RD CoE exists, however ideally they are medical centres that bring together a group of multidisciplinary, specialised competencies and ensure timely diagnosis and appropriate follow-up care by aiming to improve the continuity and coordination of care through the implementation of healthcare pathways and research (Kole & le Cam, 2010). A ERN is considered to be a physical or virtual networking of national RD CoEs to exchange knowledge and expertise at a European level. As part of the EC’s commitment to improving healthcare for rare disease patients, in 2008 a 3-year project called ‘POLKA: Patients’ consensus on preferred policy scenarii for rare diseases’ was funded and supported by the European Commission DG Sanco. The main objective of the POLKA project was to facilitate the consultation of the European rare disease community, with the aim of building consensus on preferred public health policy scenarios for rare diseases, including the quality of care available at RD CoEs, and if that level of quality was sufficient. In order to achieve the POLKA project’s objective of gathering expert advice and experience and building consensus on policies for Centres of Expertise on rare diseases, a study within POLKA called ‘The POLKA Delphi study’ was undertaken. This article presents the results of the POLKA Delphi study and the policy recommendations developed from them aimed at better provision of healthcare for RD patients in Europe. 2. Aims The aim of the POLKA Delphi study was to: Assess experiences of healthcare professionals (HCPs) and patients (including patient representatives and carers) at selected CoEs, identify policy areas with gaps for discussions on the current services and, develop policy recommendations based on findings in order to help improve care for rare disease patients across Europe.
3. Methods
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Policy Delphi, the Decision Delphi and the Group Delphi. The different forms of the Delphi such as the Policy, Decision and Group Delphi are variations of the classical Delphi. There are many more variations of Delphi now in existence known as ‘modified Delphi’ (McKenna, 1994) as researchers modify the Classic Delphi technique to suit their needs and few researchers nowadays see the need to use uniform methods. In order to meet the aims of the POLKA Delphi study a modified-Policy Delphi technique was employed. 3.2. The POLKA Delphi technique The POLKA Delphi study was planned to be carried out in RD CoEs from three countries—Denmark, the UK and France. The countries were chosen as their healthcare systems were amongst the most developed ones set up to provide specialised care for patients with rare diseases in Europe. In majority of the MS, there is a lack of specialised services for patients with rare diseases through specialist healthcare centres/CoEs. This paper presents results from Denmark and the UK as the French arm of the study encountered significant issues recruiting healthcare professionals. Fig. 1 illustrates the stages of the study reported here. The Delphi process consisted of 3 rounds. The first step of the Delphi process was the selection of participants for the Delphi panel followed by administering a questionnaire survey (Round 1). The results of the questionnaire survey were fed back to the participants and used to facilitate discussions at face-to-face meetings (Round 2). The results of both rounds were collated and used to develop policy recommendations. The draft policy recommendations were sent to participants for validation and sign-off (Round 3). 3.3. Participants A total of eight CoEs1, one in Denmark and seven in the UK, participated in the study. A contact person at each of the eight CoEs was identified to recruit a total of 160 participants as the Delphi panel and coordinate the study – 8 HCPs and 12 patients (or patient representatives and carers) per CoE – see Table 1. 3.4. Round 1: Questionnaire survey Two questionnaires, one for HCPs and one for patients, were developed by the authors (AMS & ARA) in collaboration with the POLKA project members with the aim of assessing the current experiences of healthcare professionals and patients at the centres of expertise. The questionnaires were based on the results of a survey called ‘Eurordiscare30 2 which gathered data on patients’ experience and expectations concerning health services for rare diseases in Europe. The majority of the questions asked in the HCP and patient questionnaires were similar except for a few which were specific to each group. The questionnaire for HCPs consisted of 46 questions and the questionnaire for patients consisted of 39 questions. Questions in both HCP and patients questionnaires were divided into the following 13 policy areas:
3.1. The Delphi technique A ‘Delphi technique’ is defined as ‘‘a method for structuring a group communication process so that the process is effective in allowing a group of individuals, as a whole to deal with a complex problem.’’ (Linstone & Turoff, 1975). It is based on the premise that ‘pooled intelligences’ which enhances individual judgment and captures the collective opinions of experts (Linstone & Turoff, 1975; Moore, 1987; Murry & Hammons, 1995). There are several types of Delphi. Based on a classification by van Zolingen and Klaassen (2003) they are the Classic Delphi, the
(i) (ii) (iii) (iv) (v)
Environment at CoEs, access to CoEs, coordination and cooperation within and outside CoEs, transition of care (childhood to adulthood), patient autonomy,
1 It should be noted that the CoEs are currently not ‘labelled’ as CoE and but are specialised health services provided at hospitals for rare disease patients. 2 Available at http://www.eurordis.org/IMG/pdf/voice_12000_patients/ EURORDISCARE_FULLBOOKr.pdf.
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Fig. 1. The POLKA Delphi process.
(vi) patient representatives and support groups at CoEs, (vii) provision of information to patients, (viii) raising awareness and training amongst healthcare and nonhealthcare professionals, (ix) patient-oriented and multidisciplinary care at CoEs, (x) social care assistance at CoEs, (xi) facilities for diagnosis of rare disease at CoEs, (xii) performance management of CoEs, (xiii) research at CoEs. The questionnaires were distributed by a contact person at each CoE. Participants were given a choice of replying to the questionnaire electronically using a web-based software ‘Survey
Monkey’ or by post if they opted for a paper version. For the Danish participants the questionnaires were translated from English into Danish. 3.5. Round 2: Face-to-face meetings Following the completion of round 1 of the POLKA Delphi study, the participants were invited to the face-to-face meetings which were organised at the CoEs (see Table 1)—7 in total (Alstro¨m Syndrome service from Birmingham Children’s Hospital and Torbay had a joint face-to-face meeting). Participants who replied to Round 1 questionnaire were invited. Each of the meetings was run by two facilitators who presented participants with the
Table 1 CoEs and participants invited for the POLKA Delphi study. CoE
Rare disease
City/country
The Centre for Rare Diseases (Center for sjældne sygdomme), Aarhus Universitetshospital Department of Genetic Medicine, Central Manchester University Hospitals Birmingham Children’s Hospital Torbay Hospital St. Thomas Hospital Newcastle NCG Mitochondrial Disease Service Birmingham Children’s Hospital St. Thomas Hospital
Various rare diseases
Skejby, Denmark
8
12
Neurofibromatosis Alstro¨m syndrome Alstro¨m syndrome Epidermolysis bullosa Mitochondrial diseases Epidermolysis Bullosa Xeroderma Pigmentosum
Manchester, UK Birmingham, UK Torbay, UK London, UK Newcastle, UK Birmingham, UK London, UK
8 8 8 8 8 8 8
12 12 12 12 12 12 12
64
96
Participants invited HCP
Total HCP = healthcare professional, patients = patients/patient representatives/carers.
Patients
A.M. Syed et al. / Evaluation and Program Planning 52 (2015) 78–84 Table 2 Participants in Round 1 (Questionnaire Survey).
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agreed to the recommendations developed with only a few minor edits being suggested which were taken into account.
Country
Health care professionals
Patients
Demark England Total
5/8 (62.5%) 45/56 (80%) 50/64 (78%)
12/12 (100%) 71/84 (85%) 83/96 (86%)
collated results of the Round 1 questionnaire survey and facilitated discussions by policy area. The participants were asked to give their opinions on the survey results, highlight what works well and identify areas of interest for discussion and suggest and agree on recommendations which would help improve the quality of the services and healthcare for patients. The meetings were recorded and the facilitators made notes of the responses and discussions at each of the meetings. These were analysed and combined to produce a summary of results for round 2. At the end of each face-to-face meeting at each CoE, volunteers were identified with whom the final report was shared for feedback and comments.
4. Results
4.4. Policy recommendations The policy recommendations developed in the POLKA Delphi study are listed below. The quotes presented below were selected from the questionnaire replies received and from those made at the face-to-face meetings. 4.4.1. Environment at CoEs ‘‘The sum of many small details eventually makes a great difference’’ The essential functions of a CoE should include provision of diagnosis, treatment and care in the rare diseases it specialises in. CoEs should be set up as separate units with dedicated staff providing multidisciplinary care for patients. They should not be overly-medicalised (i.e. where patients are not examined and treated without justification and patientfriendly in the sense of having rest areas, coffee, juices and tea, play areas for children, accommodate the needs of disabled patients etc.) and should be designed taking into account the needs of patients.
4.1. Round 1: Questionnaire survey A total of 133 participants, 50 HCPs and 83 patients from the eight CoEs participated in the study (see Table 2). All replies were received electronically except 11 which were sent by post. A summary of the replies by HCP and patients in each policy area from Denmark and the UK are presented in the following sections. For questions and detailed results including replies to open-ended questions, please contact the corresponding author. 4.2. Round 2: Face-to-face meetings A total of 34 HCPs and 31 patients participated in 7 face-to-face meetings carried out at each of the CoE listed in Table 3. There were 5 HCPs and 10 patients from Denmark and 29 HCP and 21 patients from the UK. 4.3. Round 3: Validation and sign off The results from the two rounds were collated and analysed in order to develop the resulting list of recommendations. In the final round of the POLKA study, all participants were sent the recommendations which were developed and requested to be commented and signed off. They were given 10 days to respond during which 79 responses were received. The responses in general
4.4.2. Access to CoEs ‘‘A red flag, a passport, a special card would help recognise the nature of the condition, provide informoation and contact details of experts (especially during an emergency)’’ Outreach clinics headed by CoEs should be established to minimise travel for patients and ensure continuity of care. Cross-border agreements between European member states should be set-up to allow European patients with no access to care in their own country to receive treatment at other European CoE where it is available.
4.4.3. Coordination and cooperation within and outside CoEs ‘‘The same law needs to be applied in the same way for everyone everywhere’’ Systems need to be established to ensure efficient exchange of patient information in the healthcare system (such as between GPs and specialists treating patients both within & outside the CoE) to ensure early, and accurate diagnosis and provision of efficient care. Systems need to be set up in order to ensure that patients are identified and moved appropriately through emergency services, such as immediate availability of important information about their condition and access to experts at CoEs during an emergency.
Table 3 CoEs and participants in Round 2 (face-to-face meetings). CoE
Rare disease
City/Country
Participants invited HCP
Patients
1. The Centre for Rare Diseases (Center for sjældne sygdomme), Aarhus Universitetshospital 2. Department of Genetic Medicine, Central Manchester University Hospitals 3. Birmingham Children’s Hospital and Torbay Hospital (1 combined meeting for participants from 2 CoEs) 4. St. Thomas Hospital 5. Newcastle NCG Mitochondrial Disease Service 6. Birmingham Children’s Hospital 7. St. Thomas Hospital
All rare diseases in Denmark Neurofibromatosis Alstro¨m syndrome
Skejby, Denmark
5
10
Manchester, UK Birmingham and Torbay, UK London, UK Newcastle, UK Birmingham, UK London, UK
5 3
2 7
2 7 7 6
5 5 0 3
35/64 (55%)
32/96 (33%)
Total HCP = healthcare professional, patients = patients/patient representatives/carers.
Epidermolysis bullosa Mitochondrial diseases Epidermolysis bullosa Xeroderma Pigmentosum
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4.4.4. Transition of care (childhood to adulthood) ‘‘A coordinator in partnership with the patient organisation can be a lifeline’’ The transition process should: Ensure transition of patients from paediatric care to adult care (including patient records) only when patient and/or carer feel ready, and for it to be an uncomplicated process. Consider any future needs of patients that may arise due to the condition. Be overseen by a transition coordinator. 4.4.5. Patient representatives and support groups at CoEs ‘‘As a carer of John for all his life, I will not be told to sit down over there and wait as if I am not part of the solution’’ Every CoE should be linked to a patient-led organisation for the condition(s) the CoE specialises in. 4.4.6. Provision of information to patients ‘‘As a patient who has been here for many years, I would gladly be in a phonebook to help any new patients get accustomed’’ Patients and their families should be regularly provided with information about their condition using appropriate channels and formats adapted for the target audience taking into account factors such as age, ethnicity, education level, etc. 4.4.7. Raising awareness and training amongst healthcare and nonhealthcare professionals ‘‘For the good of the patient, we (HCPs) cannot continue to work in silos’’ Training for HCPs such as GPs and other specialists, who are likely to come across rare disease patients. Training should be made mandatory (or offered as CPD or CME) to help ensure early detection, diagnosis and continuous appropriate management of rare diseases. HCPs (doctors, nurses and allied HCPs) should receive training to increase awareness, knowledge, and skills in order to ensure patients’ civil rights and their inclusion in care. Non-HCPs who come in contact with rare disease patients (for example school teachers, carers, employers, etc.) should be offered appropriate training. 4.4.8. Social care assistance at CoEs ‘‘There are few quick fixes. An on-site social worker is one of them’’ A dedicated social support worker/welfare officer with knowledge of the condition should be available at every CoE to help patients navigate the social care system. CoEs should have access to psychologists to provide counselling to patients, their carers and families. 4.4.9. Performance management of CoEs ‘‘There are many unknowns we (HCPs) don’t know about’’ Systems should be set up to performance manage CoEs with representation on committees from patients or patient organisations. 4.4.10. Research at CoEs ‘‘As a research centre, neurologists, dermatologists, geneticists, dentists, physiotherapists, ophthalmologists, psychologists are all at your fingertips’’ CoEs should: Establish themselves as research facilities, and include patient organisations in the design and execution of studies.
Ensure appropriate dissemination of research results to all stakeholders.
5. Discussion The POLKA Delphi study presents findings following innovative application of a sound research methodology by taking into account views of key stakeholders (healthcare professionals, patients, patient representative and carers) and achieving consensus to develop recommendations for RD CoEs in policy areas where gaps were identified. The results suggest the need for improvements to current CoE environments, facilitate easier access to CoEs and the need for coordination and cooperation of services within and outside CoEs. It is recommended that CoEs are not overlymedicalised, while at the same time establishing themselves as research facilities. The importance of including patient representatives in CoEs for their performance management was also highlighted. Raising awareness and provision of appropriate training amongst HCPs is seen as a priority for early and correct diagnosis and ensuring high quality care. Similarly, provision of targeted and easily accessible information about patients’ illness and care was considered essential along with access to social assistance at CoEs. Prominent CoEs are developing models of care that include patient representatives and social as well as educational support. The findings from this study along with experiences from such CoEs will be valuable to MS across Europe in putting together national plans and strategies for RD. Concentration of health care services for rare diseases in CoEs is not sufficient as recognised by the results of our study. It is recommended that outreach clinics headed by CoEs should be established to minimise travel for patients and also allow continuity of care locally. Similarly, Schultz, Schreyo¨gg, Stargardt, and Busse (2012) also highlight the need for effective outpatient health care structures to reduce patient’s time between the onset of a rare disease and the beginning of treatment. Another reason for delayed diagnosis of RDs is generally due to the fact that GPs lack awareness of rare conditions or are reluctant, because of cost considerations, to refer patients to a specialist, which is line with Wise (2012). This is likely the case also with other specialist doctors and HCPs. Findings of an Australian study showed that families caring for children with genetic metabolic disorders were adversely impacted by delays in diagnosis (Anderson, Elliott, & Zurynski, 2013). A solution to tackle these issues would be to set up systems of knowledge transfer from RD CoEs into the broader outpatient sector by collaborating with regional health care networks and generate knowledge for the RD CoEs as recommended by Schultz et al. (2012). This also allows for possibilities of providing training to HCP, using technology to establish diagnosis and developing quality standards and clinical guidelines for RDs. More should be done to help RD patients understand their illness and look after themselves. Experiences of patients in our study were that the Internet and social networking had significantly increased their ability to share experiences and learn from other patients. It also helps raise public awareness for their condition. Black and Baker (2011) report that Internet and social networking have also changed the effectiveness of patient advocacy groups for rare diseases. Therefore, these methods should be explored further in RD patient care. Our findings urge access to psychologists to provide counselling for patients, their carers and families. The need for the CoE to be linked to a patient-led organisation in order to provide access to support groups was also underlined. Anderson et al. (2013) found that lack of easy access to peer support groups and psychological support had an adverse impact on families, strengthening our recommendation further.
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In general, it is well recognised that individuals with RD face intrinsic inequalities in healthcare and in response to a 2010 recommendation by the European Commission, EU member states agreed to produce a strategy for RD. Although much success has been observed in the establishment of RD CoEs in several MS, several challenges for future national strategies on CoE remain (Kole & le Cam, 2010). Rarity of diseases can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations (Forman et al., 2012). It is emphasised that MS across Europe should work toward the establishment of RD CoEs as possibly the most crucial elements in the context of national plans and strategies. At present no clear definitions of a RD CoE exist, however it has been recognised that the concept of a RD CoE may need to be functional or virtual rather than geographical, and it would need to overcome the organisational restrictions that now block working across different health care providers and social care (Taylor & Karet Frankl, 2012). This is due to the fact that a RD patient may at different times require urgent management in a local hospital with advice from an external expert source; local monitoring in primary care while stable; or a one-off complex procedure that is provided only in one or two specialist institutions in the country (Taylor & Karet Frankl, 2012). It is essential to provide integrated services across the health economy for seamless care for RD patients, although it is unclear how it should be commissioned and funded and is likely to vary across MS. In addition to providing an added value to the quality of local healthcare services, CoEs are also key facilitators for research on rare diseases, and support the optimisation of healthcare spending in the current economic climate (Kole & le Cam, 2010). The Delphi technique allowed bringing together a reasonably large number of participants for the study despite being geographically dispersed and required minimum resources. It must be noted that the majority of the study participants were from the UK which might be a limitation to the results of the study as UK recommendations might have been voiced more strongly compared to the Danish ones. This issue arises due to having separate face-to-face meetings in the two countries. It would have been ideal to have one face-to-face meeting for all participants rather than 7 (6 in the UK and 1 in Denmark) which would probably have resulted in a more constructive debate and equally voiced policy recommendations. However, this was not possible for three reasons, first because we were unable to coordinate patients to one venue given the severity of their conditions and ability to travel long distances, second because it was not possible to get availability of all HCPs on a given date and thirdly due to language. These are also the reasons why the proportions of participants in round 2 was lower (55% HCPs and 33% patients), although this did not impact on the results of the overall findings. In the UK, it was a challenge to coordinate a face-to-face meeting in seven CoEs. Previous reports of the Delphi technique in developing international policy options have shown it to be a positive experience (Syed, Hjarnoe, & Aro, 2009). This analysis of national plans and strategies on RD in Europe shows that a few countries have already set up national plans. Existing national plans show a good consistency, but also at quite different stage of progress, depending on start date as well as on resource allocation (Taruscio, Vittozzi, & Stefanov, 2010). It is suggested that studies similar to the POLKA study should be undertaken in each MS where national plans and strategies as the approach used in the POLKA Delphi study has a number of strengths including the ability to engage key stakeholders, thus ensuring policies are developed keeping those
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receiving and delivering healthcare at the centre. Most of the faceto-face meetings also suggested that regular reviews of polices and plans should be undertaken in order to assess whether recommendations made have been implemented, if implemented have they worked and also to see if they need to be adapted. In Europe, CoEs are moving towards adopting a multi-disease and multi-disciplinary approach in order to dispense comprehensive and expert care to rare disease patients, as well as to save resources and money in these times of shrinking health budgets. The 7 UK CoEs included in the study were disease-specific while the Danish CoE treated patients with all rare diseases. Regardless of the different CoE models, no differences in the results between the two countries were noted. This suggests the policy gaps are independent of the CoE model or disease type. The recommendations presented in the study will enable improvement in the care of rare disease patients at CoEs regardless of these factors. However, to benefit from improved care at CoEs, access to them is fundamental. Further research is needed to establish patient care pathways and health care delivery for all RD patients, especially those currently not accessing them. 6. Conclusion A number of 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. Conflict of interest statement None. What this paper adds Rare diseases are a serious public health concern and are a priority in the EU. The development and establishment of Centres of Expertise (CoEs) and European Reference Networks (ERNs) is recommended, however there is a lack of policy recommendations for CoEs and ERNs. This study assesses experience of HCPs and patients at existing UK and Danish CoEs, identifies policy areas with gaps and uses this information to develop policy recommendations in order to improve care for rare disease patients.
Acknowledgements This work was done as part of ‘Patients’ Consensus on Preferred Policy Scenarios for Rare Diseases (POLKA)’, a European Commission project funded under EU Health Programme 2008–2013: Project No 2007330. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein. The authors would also like to thank the patients and their carers who participated in the study and express thanks to the individuals listed below who helped coordinated the study: Edmund Jessop (Advisor, National Commissioning Group NCGNHS), Lene Jensen (Rare Disorders Denmark and POLKA Work Package 4 leader), Leif Jiskoot (PlayDecide Project Coordinator, EURORDIS), Anna Kole (POLKA Project Co-ordinator, EURORDIS), Celia Moss (EB Team, Dermatology Department, Birmingham
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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 Houy¨ez 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.