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.

Clinical Genetics Unit Department of Women's and Children's Health University of Padova Via Giustiniani 3 35128 Padova Italy

Department of Biology and Medical Genetics Charles University 2nd Faculty of Medicine and University Hospital Motol 5 Úvalu 84 150 06 Prague 5 Czech Republic

Department of Genetics and Molecular Medicine Hospital of Lithuanian University of Health Sciences Kauno klinikos Eivenių Str 2 LT 50161 Kaunas Lithuania

Department of Genetics AP HP Robert Debré University Hospital Bd Sérurier 75019 Paris France

Department of Human and Medical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University M K Čiurlionio g 21 27 LT 03101 Vilnius Lithuania

Department of Medical Genetics and Centre of Reference for Developmental Anomalies and Malformative syndromes CHU de Dijon 14 Rue Paul Gaffarel 21000 Dijon 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

Department of Molecular Medicine and Surgery Center for Molecular Medicine and Department of Clinical Genetics Karolinska University Hospital 171 77 Stockholm Sweden

Discipline of Genetics Victor Babeș University of Medicine and Pharmacy Piața Eftimie Murgu 2 300041 Timișoara Romania

Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester Oxford Road Manchester M13 9PL UK

European Commission DG Health and Food Safety Information Systems Rue Breydel 4 Breydelstraat 4 Building B232 1049 Brussels Belgium

Genetic Department Hospices Civils de Lyon and CRNL GENDEV Team INSERM U1028 U1028 UMR 5292 Bd Pinel 69677 Bron Cedex France

Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù IRCCS 00146 Rome Italy

Louis Turcanu Clinical Emergency Hospital for Children Strada Doctor Iosif Nemoianu 2 300011 Timișoara Romania

Manchester Centre for Genomic Medicine St Mary's Hospital Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester M13 9WL UK

Medical Genetics Department La Timone Hospital Marseilles Public University Hospital 278 Rue Saint Pierre 13005 Marseille France

Medical Genetics Department of Medical Biotechnologies University of Siena Policlinico Santa Maria alle Scotte Viale Mario Bracci 16 53100 Siena 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