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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
M. Smith, E. Alexander, R. Marcinkute, D. Dan, M. Rawson, S. Banka, J. Gavin, H. Mina, C. Hennessy, F. Riccardi, FC. Radio, M. Havlovicova, M. Cassina, AC. Emandi, M. Fradin, L. Gompertz, A. Nordgren, R. Traberg, M. Rossi, A. Trimouille, R....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
BioMedCentral Open Access od 2006
Directory of Open Access Journals od 2006
Free Medical Journals od 2006
PubMed Central od 2006
Europe PubMed Central od 2006
ProQuest Central od 2009-01-01
Open Access Digital Library od 2006-01-01
Open Access Digital Library od 2006-01-01
Medline Complete (EBSCOhost) od 2006-01-01
Health & Medicine (ProQuest) od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources od 2006
Springer Nature OA/Free Journals od 2006-12-01
Odkazy
PubMed
32334637
DOI
10.1186/s13023-020-1349-1
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- lidé MeSH
- poskytování zdravotní péče MeSH
- telemedicína * MeSH
- vývojové poruchy u dětí MeSH
- vzácné nemoci * diagnóza terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies, ERN ITHACA, was formed to harness the clinical and diagnostic expertise in the sector of rare, multiple anomaly and/or intellectual disability syndromes, chromosome disorders and undiagnosed syndromic disorders. We present the first year results of CPMS use by ERN ITHACA as an example of a telemedicine strategy for the diagnosis and management of patients with rare developmental disorders. RESULTS: ERN ITHACA ranked third in telemedicine activity amongst 24 European networks after 12 months of using the CPMS. Information about 28 very rare cases from 13 different centres across 7 countries was shared on the platform, with diagnostic or other management queries. Early interaction with patient support groups identified data protection as of primary importance in adopting digital platforms for patient diagnosis and care. The first launch of the CPMS was built to accommodate the needs of all ERNs. The ERN ITHACA telemedicine process highlighted a need to customise the CPMS with network-specific requirements. The results of this effort should enhance the CPMS utility for telemedicine services and ERN-specific care outcomes. CONCLUSIONS: We present the results of a long and fruitful process of interaction between the ERN ITHACA network lead team and EU officials, software developers and members of 38 EU clinical genetics centres to organise and coordinate direct e-healthcare through a secure, digital platform. The variability of the queries in just the first 28 cases submitted to the ERN ITHACA CPMS is a fair representation of the complexity and rarity of the patients referred, but also proof of the sophisticated and variable service that could be provided through a structured telemedicine approach for patients and families with rare developmental disorders. Web-based approaches are likely to result in increased accessibility to clinical genomic services.
Department of Genetics AP HP Robert Debré University Hospital Bd Sérurier 75019 Paris France
Department of Medical Genetics CHU de Lyon 162 Avenue Lacassagne 69003 Lyon France
Department of Medical Genetics CHU de Rennes 2 rue Henri Le Guilloux 35033 Rennes cedex 9 France
Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù IRCCS 00146 Rome Italy
Open Applications Consulting Ltd Avoca House 191 Parnell St Rotunda Dublin 1 Ireland
Romanian National Alliance for Rare Diseases RONARD 29 Avram Iancu etaj 3 450143 Zalau Romania
Université Paris Diderot 5 Rue Thomas Mann 75013 Paris France
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- $a BACKGROUND: The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies, ERN ITHACA, was formed to harness the clinical and diagnostic expertise in the sector of rare, multiple anomaly and/or intellectual disability syndromes, chromosome disorders and undiagnosed syndromic disorders. We present the first year results of CPMS use by ERN ITHACA as an example of a telemedicine strategy for the diagnosis and management of patients with rare developmental disorders. RESULTS: ERN ITHACA ranked third in telemedicine activity amongst 24 European networks after 12 months of using the CPMS. Information about 28 very rare cases from 13 different centres across 7 countries was shared on the platform, with diagnostic or other management queries. Early interaction with patient support groups identified data protection as of primary importance in adopting digital platforms for patient diagnosis and care. The first launch of the CPMS was built to accommodate the needs of all ERNs. The ERN ITHACA telemedicine process highlighted a need to customise the CPMS with network-specific requirements. The results of this effort should enhance the CPMS utility for telemedicine services and ERN-specific care outcomes. CONCLUSIONS: We present the results of a long and fruitful process of interaction between the ERN ITHACA network lead team and EU officials, software developers and members of 38 EU clinical genetics centres to organise and coordinate direct e-healthcare through a secure, digital platform. The variability of the queries in just the first 28 cases submitted to the ERN ITHACA CPMS is a fair representation of the complexity and rarity of the patients referred, but also proof of the sophisticated and variable service that could be provided through a structured telemedicine approach for patients and families with rare developmental disorders. Web-based approaches are likely to result in increased accessibility to clinical genomic services.
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