Abstract
Rare diseases (RDs) are serious, often chronic, progressive, degenerative and associated with comorbidities, substantially affecting quality of life.
Integrated care is essential to ensure the transfer of scarce expertise on RDs, the needed coordination between care providers, and to ultimately improve care pathways, guaranteeing the continuous and holistic care delivery that people with RDs need.
Studies and pilots conducted so far have shown that integrated and holistic care provision leads to important quality of life improvements for those living with RDs and their families, while being cost-effective and improving the coordination among care providers.
Despite this growing evidence, much remains to be done to achieve integrated care for people living with RDs in Europe. In 2016, the Commission Expert Group on Rare Diseases recommended that European Member States should implement measures to facilitate multidisciplinary, holistic, continuous and person-centred care to people living with RDs.
In 2019, EURORDIS-Rare Diseases Europe, published an important set of recommendations to support the implementation of integrated care for RDs in Europe. These refer measures to create a supporting environment at national level, specific mechanisms to ensure integrated care and concrete actions to support the dissemination of essential knowledge and good practices.
Various methods can and should be used simultaneously to promote integrated care for RDs, including: Centres of Expertise and resource centres for RDs; case managers; care pathways and standards of care; individual care plans; networking and training programmes for service providers; eHealth; European Reference Networks; and the integration of RDs into national functionality/disability assessment systems.
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- 1.
European survey—“Juggling care and daily life: The balancing act of the rare disease community”, to 3071 respondents from 42 countries. The survey was conducted in 23 languages, by EURORDIS−Rare Diseases Europe, through its Rare Barometer Programme, and within the EU−funded project INNOVCare. More information available at: https://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf.
- 2.
More information is available at: https://www.eurordis.org/carepaper.
- 3.
The EUCERD was a multi-stakeholder group including RD experts, MS and patient representatives, charged with aiding the EC with the preparation and implementation of community activities in the field of RDs, in cooperation and consultation with the specialised bodies in MS, the relevant European authorities and other relevant stakeholders. In 2014, the EUCERD was replaced by the European Commission Expert Group on Rare Diseases (CEGRD). More information is available at: https://www.eucerd.eu/.
- 4.
EUCERD recommendations are available at: https://www.eucerd.eu/?page_id¼13.
- 5.
More information is available at: https://www.europlanproject.eu/Content?folder¼1.
- 6.
Centres of Expertise (CEs) are physical expert structures for the management and care of RD patients. Each CE is specialised in a single RD or group of RDs and shares the mission of providing patients with the highest standards of care to deliver timely diagnosis, appropriate treatments and follow-up. More information is available at https://www.eurordis.org/sites/default/files/publications/factsheet_Centres_Expertise.pdf.
- 7.
European Reference Networks (ERNs) for RDs should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other MS and ensuring the availability of subsequent treatment facilities wherever necessary. More information available at: https://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm.
- 8.
More information is available at: https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uriJ:L:2011:088:0045:0065:EN:PDF.
- 9.
Orphanet is a unique resource, gathering and improving knowledge on RDs so as to improve the diagnosis, care and treatment of patients with RDs. Orphanet aims to provide high-quality information on RDs and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems. More information is available at: https://www.orpha.net/consor/cgi-bin/index.php.
- 10.
Centres of Expertise (CEs) are physical expert structures for the management and care of RD patients. Each CE is specialised in a single RD or group of RDs. More information is available at https://www.eurordis.org/sites/default/files/publications/factsheet_Centres_Expertise.pdf.
- 11.
The CEGRD replaced the EUCERD in 2014 in supporting the EC with the preparation and implementation of community activities in the field of RDs. More information is available at: https://ec.europa.eu/health/rare_diseases/expert_group/index_en.htm.
- 12.
More information is available at: https://www.socialstyrelsen.se/Lists/Artikelkatalog/attachments/8407/2009-126-188_2009126188.pdf.
- 13.
More information is available at: https://bit.ly/1M2noBZ.
- 14.
The full French National Plan for Rare Diseases (2018–2022) is available in English here: https://solidarites-sante.gouv.fr/IMG/pdf/pnmr3_-_en.pdf.
- 15.
More information on the French protocols is available here: https://www.has-sante.fr/jcms/c_1340879/fr/protocoles-nationaux-de-diagnostic-et-de-soins-pnds [French].
- 16.
A national network of expertise is being set up for some RDs to provide integrated care. Moreover, the Dutch Genetic Alliance hosts a website to disseminate RD quality standards. More information is available at: www.zorgstandaarden.net.
- 17.
More information is available at: https://bit.ly/1WPmhgt [Dutch].
- 18.
More information is on Sect. 25.4 Results of Integrated Care Approaches to Care Delivery and at https://innovcare.eu/wp-content/uploads/2018/11/INNOVCare-Results_October-2018.pdf.
- 19.
More information is available at: https://download.eurordis.org.s3.amazonaws.com/emm2015/ws4/5.DOMINIQUE_FRANCE_Prior%20Eurordis%20Madrid.pdf.
- 20.
More information is available at: https://solidarites-sante.gouv.fr/IMG/pdf/pnmr3_-_en.pdf.
- 21.
More information is available at: https://innovcare.eu/social-services/resource-centres-for-rare-diseases/.
- 22.
17 The EUCERD Joint Action: Working for Rare Diseases, co-funded by the EC, supported the activities and mandate of the EUCERD until the end of 2013 and the activities of the CEGRD, from 2014. More information is available at: https://www.eucerd.eu/?page_id¼54.
- 23.
18 Map and list of services are available at: https://www.eurordis.org/specialised-social-services.
- 24.
19 NoRo has organised a network of videoconference facilities with seven Romanian medical universities which aims at facilitating direct access to information/good practices and meetings between patients and professionals.
- 25.
20 More information is available at: www.edubolirare.ro.
- 26.
More information is available at: https://download.eurordis.org/documents/pdf/sss/3-RCS-Agrenska-Gunilla-Jaeger.pdf.
- 27.
More information is available at: https://innovcare.eu/social-services/rareresourcenet/.
- 28.
More information is available at: https://www.rare-diseases.eu/wp-content/uploads/2014/05/0602_Myriam_de_CHALENDAR.pdf.
- 29.
More information available at: http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf/index_en.htm. and http://www.rd-action.eu/wp-content/uploads/2018/09/Final-Overview-Report-State-of-the-Art-2018-version.pdf, Section 5 (Hedley et al. 2018).
- 30.
This founding principle is explained in the Addendum to the EUCERD Recommendations on ERNs: https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/20150610_erns_eucerdaddendum_en.pdf.
- 31.
This founding principle is explained in the Addendum to the EUCERD Recommendations on ERNs: https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/20150610_erns_eucerdaddendum_en.pdf.
- 32.
This founding principle is explained in the Addendum to the EUCERD Recommendations on ERNs: https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/20150610_erns_eucerdaddendum_en.pdf.
- 33.
More information is available at: https://ec.europa.eu/health/ern_en.
- 34.
INNOVCare (2015–2018), a project co-funded by the EU, addressed the issue of integrated care for people affected by RDs by developing, testing and promoting a holistic, personalised care pathway. A pilot of case management was implemented and evaluated during the project. The pilot took place in Romania, in 2017–2018, and involved 121 patients with RDs, who had access to the service for 9 months, over a course of 18 months in total. The evaluation method consisted of a two-condition repeated measures design/rotation design with randomised control trial. The patients were divided with two groups, and each group was accessing the service in alternance, allowing for comparisons between the groups and within the same group. More information is at: www.innovcare.eu.
- 35.
Study done by the Department of Economics of the University of Gothenburg on Ågrenska: the approach offered by the centre saves money compared to ordinary programmes for disabled children. Moreover, a family requires less support from social services when having access to the centre. There is a nearly threefold decrease in costs when the child is correctly diagnosed and accesses proper treatment, compared to a child who is improperly diagnosed and treated through ordinary programmes. The savings appear to result from the reduction of costs with seeking emergency help, visiting specialists and sick leaves.
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Acknowledgements
We thank Juliet Senecat, former Health and Social Projects Manager at EURORDIS-Rare Diseases Europe, for her involvement in the literature research and writing of the first edition of this chapter.
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Castro, R. et al. (2021). Rare Diseases. In: Amelung, V., Stein, V., Suter, E., Goodwin, N., Nolte, E., Balicer, R. (eds) Handbook Integrated Care. Springer, Cham. https://doi.org/10.1007/978-3-030-69262-9_44
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