{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:45:06Z","timestamp":1792763106273,"version":"4.5.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T00:00:00Z","timestamp":1615939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T00:00:00Z","timestamp":1615939200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1007\/s12687-021-00521-8","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T13:03:18Z","timestamp":1615986198000},"page":"217-229","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["European Reference Networks: challenges and opportunities"],"prefix":"10.1007","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6010-2584","authenticated-orcid":false,"given":"Birute","family":"Tumiene","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Graessner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene MJ","family":"Mathijssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto M","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Yves","family":"Blay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoline","family":"Hoogerbrugge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,17]]},"reference":[{"issue":"10","key":"521_CR1","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1016\/j.ejmg.2018.04.009","volume":"61","author":"G Bertier","year":"2018","unstructured":"Bertier G, Cambon-Thomsen A, Joly Y (2018 Oct) Is it research or is it clinical? Revisiting an old frontier through the lens of next-generation sequencing technologies. Eur J Med Genet. 61(10):634\u2013641. https:\/\/doi.org\/10.1016\/j.ejmg.2018.04.009","journal-title":"Eur J Med Genet."},{"key":"521_CR2","unstructured":"Commission Delegated Decision of 10 March 2014 setting out criteria and conditions that European Reference Networks and healthcare providers wishing to join a European Reference Network must fulfil (2014). Available at: https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=CELEX%3A32014D0286"},{"key":"521_CR3","unstructured":"Commission Implementing Decision of 10 March 2014 setting out criteria for establishing and evaluating European Reference Networks and their members and for facilitating the exchange of information and expertise on establishing and evaluating such Networks (2014). Available at: https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=OJ%3AJOL_2014_147_R_0007"},{"issue":"2","key":"521_CR4","doi-asserted-by":"publisher","first-page":"e0158406","DOI":"10.1371\/journal.pone.0158406","volume":"12","author":"O Derbel","year":"2017","unstructured":"Derbel O, Heudel PE, Cropet C et al (2017) Survival impact of centralization and clinical guidelines for soft tissue sarcoma (a prospective and exhaustive population-based cohort). PLoS One 12(2):e0158406. Published 2017 Feb 3. https:\/\/doi.org\/10.1371\/journal.pone.0158406","journal-title":"PLoS One"},{"key":"521_CR5","unstructured":"European Commission website. European Reference Networks (n.d.) Available at: https:\/\/ec.europa.eu\/health\/ern_en. Accessed 5 Aug 2020"},{"key":"521_CR6","unstructured":"European Commission website. European Research Infrastructure Consortium (ERIC) (n.d.) Available at: https:\/\/ec.europa.eu\/info\/research-and-innovation\/strategy\/european-research-infrastructures\/eric_en"},{"key":"521_CR7","unstructured":"European Commission. ERN assessment manual for applicants. Description and Procedures (2019). Available at: https:\/\/ec.europa.eu\/health\/sites\/health\/files\/ern\/docs\/call2019_assesmanual_en.pdf"},{"key":"521_CR8","unstructured":"European Commission. Expert panel on effective ways of investing in health (EXPH). Opinion on Application of the ERN model in European cross-border healthcare cooperation outside the rare diseases area (2018). Available at: https:\/\/ec.europa.eu\/health\/sites\/health\/files\/expert_panel\/docs\/021_erns_en.pdf"},{"key":"521_CR9","unstructured":"European Commission. Rare Disease European Reference Networks: Addendum to EUCERD Recommendations of January (2013). Available at: https:\/\/ec.europa.eu\/health\/sites\/health\/files\/rare_diseases\/docs\/20150610_erns_eucerdaddendum_en.pdf"},{"key":"521_CR10","unstructured":"European Court of Auditors. EU actions for cross-border healthcare: significant ambitions but improved management required. (2019). Available at: https:\/\/www.eca.europa.eu\/Lists\/ECADocuments\/SR19_07\/SR_HEALTH_CARE_EN.pdf"},{"key":"521_CR11","unstructured":"European Joint Programme for Rare Diseases (n.d.) website. Available at: https:\/\/www.ejprarediseases.org\/. Accessed 5 Aug 2020"},{"key":"521_CR12","unstructured":"European Parliament. Committee on the Environment, Public Health and Food Safety. Report on the implementation of the Cross-Border Healthcare Directive (2018\/2108(INI)). Available at: https:\/\/www.europarl.europa.eu\/doceo\/document\/A-8-2019-0046_EN.html"},{"key":"521_CR13","unstructured":"European Parliament and the Council of the European Union. Directive 2011\/24\/EUof the European Parliament and of the Council of 9 March 2011 on the application of patients\u2019 rights in cross-border healthcare. Available at: https:\/\/eur-lex.europa.eu\/legal-content\/EN\/TXT\/?uri=celex%3A32011L0083"},{"key":"521_CR14","unstructured":"European Union, Consolidated version of the Treaty on the Functioning of the European Union, 26 October (2012), OJ L. 326\/47-326\/390; 26.10.2012, available at: https:\/\/www.refworld.org\/docid\/52303e8d4.html [accessed 10 October 2020]"},{"key":"521_CR15","unstructured":"EUROPLAN. European Project for Rare Diseases National Plans Development (n.d.) Available at: http:\/\/www.europlanproject.eu\/Default. Accessed 5 Aug 2020"},{"issue":"6","key":"521_CR16","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1038\/s41591-019-0457-8","volume":"25","author":"L Fr\u00e9sard","year":"2019","unstructured":"Fr\u00e9sard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S, Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB (2019 Jun) Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25(6):911\u2013919. https:\/\/doi.org\/10.1038\/s41591-019-0457-8","journal-title":"Nat Med"},{"key":"521_CR17","unstructured":"Greer SL, Fahy N, Rozenblum S, Jarman H, Palm W, Elliott HA, Wismar M (2019) Everything you always wanted to know about European Union health policies but were afraid to ask (2nd ed.). European Observatory on Health Systems and Policies, 2019. \u00a9 World Health Organization"},{"key":"521_CR18","unstructured":"Harrap N, Doussineau M (2017) Collaboration and networks: EU13 participation in international science. Stairway to Excellence - JRC Policy Insights; https:\/\/ec.europa.eu\/jrc\/sites\/jrcsh\/files\/jrc104861.pdf."},{"key":"521_CR19","doi-asserted-by":"publisher","unstructured":"Harrison M, Birch S, Eden M, Ramsden S, Farragher T, Payne K, Hall G, Black GC. (2015 Apr) Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS. J Community Genet. 6(2):157\u2013 65. https:\/\/doi.org\/10.1007\/s12687-014-0210-4","DOI":"10.1007\/s12687-014-0210-4"},{"issue":"5","key":"521_CR20","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1377\/hlthaff.27.5.1329","volume":"27","author":"J Hwang","year":"2008","unstructured":"Hwang J, Christensen CM (2008 Sep-Oct) Disruptive innovation in health care delivery: a framework for business-model innovation. Health Aff (Millwood). 27(5):1329\u20131335. https:\/\/doi.org\/10.1377\/hlthaff.27.5.1329","journal-title":"Health Aff (Millwood)."},{"key":"521_CR21","unstructured":"Joint Action Rare Cancers. Rare Cancers Agenda (2030). Available at: https:\/\/www.jointactionrarecancers.eu\/index.php\/news-events\/265-rare-cancer-agenda-2030"},{"issue":"2","key":"521_CR22","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/j.ejso.2018.06.032","volume":"45","author":"R Kalaiselvan","year":"2019","unstructured":"Kalaiselvan R, Malik AK, Rao R, Wong K, Ali N, Griffin M, Chandrasekar CR, Fenwick SF, Poston GJ, Malik H (2019) Impact of centralization of services on outcomes in a rare tumour: Retroperitoneal sarcomas. Eur J Surg Oncol. 45(2):249\u2013253. https:\/\/doi.org\/10.1016\/j.ejso.2018.06.032","journal-title":"Eur J Surg Oncol."},{"issue":"4","key":"521_CR23","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0207046","volume":"14","author":"Z Kal\u00f3","year":"2019","unstructured":"Kal\u00f3 Z, van den Akker LHM, Vok\u00f3 Z, Csan\u00e1di M, Pitter JG (2019) Is there a fair allocation of healthcare research funds by the European Union? PLoS One. 14(4):e0207046. https:\/\/doi.org\/10.1371\/journal.pone.0207046","journal-title":"PLoS One."},{"issue":"2","key":"521_CR24","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","volume":"28","author":"S Nguengang Wakap","year":"2020","unstructured":"Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A (2020 Feb) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 28(2):165\u2013173. https:\/\/doi.org\/10.1038\/s41431-019-0508-0","journal-title":"Eur J Hum Genet."},{"key":"521_CR25","doi-asserted-by":"publisher","unstructured":"Nuti S, Seghieri C, Niccolai F, Vasta F, Grazzini G (2017 Jun) Comparing regional models of congenital bleeding disorders: preliminary steps in the Italian context. BMC Res Notes. 10(1):229. https:\/\/doi.org\/10.1186\/s13104-017-2552-6","DOI":"10.1186\/s13104-017-2552-6"},{"key":"521_CR26","doi-asserted-by":"publisher","unstructured":"OECD (2020), Resourcing higher education: challenges, choices and consequences, higher education, OECD Publishing, Paris, https:\/\/doi.org\/10.1787\/735e1f44-en","DOI":"10.1787\/735e1f44-en"},{"issue":"5","key":"521_CR27","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1055\/s-0037-1606635","volume":"27","author":"M Pakarinen","year":"2017","unstructured":"Pakarinen M, Bj\u00f8rland K, Qvist N, Wester T (2017 Oct) Centralized pediatric surgery in the Nordic countries: a role model for Europe? Eur J Pediatr Surg 27(5):395\u2013398. https:\/\/doi.org\/10.1055\/s-0037-1606635","journal-title":"Eur J Pediatr Surg"},{"issue":"1","key":"521_CR28","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.ejso.2017.09.015","volume":"45","author":"S Pasquali","year":"2019","unstructured":"Pasquali S, Bonvalot S, Tzanis D, Casali PG, Trama A (2019 Jan) Gronchi A; RARECARENet Working Group. Treatment challenges in and outside a network setting: soft tissue sarcomas. Eur J Surg Oncol. 45(1):31\u201339. https:\/\/doi.org\/10.1016\/j.ejso.2017.09.015","journal-title":"Eur J Surg Oncol."},{"issue":"1","key":"521_CR29","doi-asserted-by":"publisher","first-page":"e0170365","DOI":"10.1371\/journal.pone.0170365","volume":"12","author":"S Pavan","year":"2017","unstructured":"Pavan S, Rommel K, Mateo Marquina ME, H\u00f6hn S, Lanneau V, Rath A (2017) Clinical practice guidelines for rare diseases: the Orphanet database. PLoS One 12(1):e0170365. Published 2017 Jan 18. https:\/\/doi.org\/10.1371\/journal.pone.0170365","journal-title":"PLoS One"},{"issue":"4","key":"521_CR30","doi-asserted-by":"publisher","first-page":"e0193330","DOI":"10.1371\/journal.pone.0193330","volume":"13","author":"L Perrier","year":"2018","unstructured":"Perrier L, Rascle P, Morelle M et al (2018) The cost-saving effect of centralized histological reviews with soft tissue and visceral sarcomas, GIST, and desmoid tumors: the experiences of the pathologists of the French Sarcoma Group. PLoS One 13(4):e0193330. Published 2018 Apr 5. https:\/\/doi.org\/10.1371\/journal.pone.0193330","journal-title":"PLoS One"},{"issue":"5","key":"521_CR31","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1055\/s-0037-1606636","volume":"27","author":"M Peycelon","year":"2017","unstructured":"Peycelon M, Faraj S, Leclair MD, Bonnard A (2017 Oct) French connection between specialized and routine pediatric surgical care. Eur J Pediatr Surg. 27(5):410\u2013415. https:\/\/doi.org\/10.1055\/s-0037-1606636","journal-title":"Eur J Pediatr Surg."},{"key":"521_CR32","unstructured":"Plan National Maladies Rares (2018-2022). Available at: https:\/\/solidarites-sante.gouv.fr\/IMG\/pdf\/plan_national_maladies_rares_2018-2022.pdf"},{"key":"521_CR33","unstructured":"Rare Barometer (2021) Improve our experience of health care! Available at: https:\/\/download2.eurordis.org\/rbv\/HCARE\/HCARE_FS_long.pdf. Accessed 12 Feb 2021"},{"key":"521_CR34","unstructured":"RD-ACTION (2018) Workpackage 6. Overview report on the state of the art of rare disease activities in Europe, Available at: http:\/\/www.rd-action.eu\/wp-content\/uploads\/2018\/09\/Final-Overview-Report-State-of-the-Art-2018-version.pdf"},{"key":"521_CR35","unstructured":"RD-ACTION (n.d.) Data and policies for rare diseases. Workpackage 6: Policy development for rare diseases and integration. Available at: http:\/\/www.rd-action.eu\/workpackage\/workpackage-6\/. Accessed 5 Aug 2020"},{"issue":"1","key":"521_CR36","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s13023-018-0810-x","volume":"13","author":"A Slade","year":"2018","unstructured":"Slade A, Isa F, Kyte D, Pankhurst T, Kerecuk L, Ferguson J, Lipkin G, Calvert M (2018 Apr 23) Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 13(1):61. https:\/\/doi.org\/10.1186\/s13023-018-0810-x","journal-title":"Orphanet J Rare Dis."},{"key":"521_CR37","unstructured":"Socha K, Couffinhal A, Nader C (2017) Tackling Wasteful Spending on Health. OECD Publishing"},{"key":"521_CR38","doi-asserted-by":"publisher","first-page":"k1687","DOI":"10.1136\/bmj.k1687","volume":"361","author":"C Turnbull","year":"2018","unstructured":"Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S (2018 Apr 24) Caulfield MJ; 100\u2009000 Genomes Project. The 100\u2009000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 361:k1687. https:\/\/doi.org\/10.1136\/bmj.k1687","journal-title":"BMJ"},{"issue":"7814","key":"521_CR39","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","volume":"583","author":"E Turro","year":"2020","unstructured":"Turro E, Astle WJ, Megy K, Gr\u00e4f S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, SVV D, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, NBA R, Saleem MA, KGC S, Stark H, RYY T, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR, NIHR BioResource for the 100,000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH (2020 Jul) Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583(7814):96\u2013102. https:\/\/doi.org\/10.1038\/s41586-020-2434-2","journal-title":"Nature"},{"issue":"1","key":"521_CR40","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1186\/s13023-019-1075-8","volume":"14","author":"L Vandeborne","year":"2019","unstructured":"Vandeborne L, van Overbeeke E, Dooms M, De Beleyr B, Huys I (2019) Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J Rare Dis 14(1):99. Published 2019 May 4. https:\/\/doi.org\/10.1186\/s13023-019-1075-8","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-021-00521-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-021-00521-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-021-00521-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T04:47:52Z","timestamp":1744174072000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-021-00521-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,17]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["521"],"URL":"https:\/\/doi.org\/10.1007\/s12687-021-00521-8","relation":{},"ISSN":["1868-310X","1868-6001"],"issn-type":[{"value":"1868-310X","type":"print"},{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,17]]},"assertion":[{"value":"14 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Dr. Graessner received consulting fees from Roche. He has received a speaker honorarium from Takeda. The co-authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This article does not contain any studies with human participants or animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Research involving human participants and\/or animals"}}]}}