Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Abstract

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.

More room for telemedicine after COVID-19: lessons for primary care?

“…From the supply side, we fully share the opinion that larger-scale organizations comprising a wide range of health professionals have become a pressing priority for a modern PC [32]. Working together is important to ensure high-quality care for patients [15], and co-location should facilitate communication and boost teamwork in PC too [33]. Therefore, a rational strategy would be to merge all the existing sites providing different health and administrative services at local level into single 'PC centers' open at least 12 h per week day, bringing together all the health and non health professionals working in PC, including GPs, who should become full-time employees like their colleagues in hospitals [8].…”

“…Following the first telephone exchanges at the end of the last century, synchronous TM can now be practiced through modern and hi-tech audio-video devices (e.g., smartphones, tablets and laptops). Currently, the potential interest on TM in developed countries goes far beyond the initial opportunity to periodically consult patients living in rural or island areas [14,15], and can be extended at least to patients unable to travel on account of disability problems, financial restraints or work commitments [11]. As a matter of fact, the technical barriers that potentially limited widespread TM usage in the past have been gradually overcome [16], thanks to the drastic cost reduction of audio-video devices too [11]-more than 80% of 16-74-year-old EU citizens had accessed internet via multiple devices in 2016 [17].…”

“…As expected, TM also proved cost-effective from the health and societal perspectives [21,22], thanks to lower direct (clinical) and indirect (travel and work loss) costs. In general, TM should help pave the way to effective, efficient and patient-centered health care in the long run [3,15], facilitating and speeding up the interaction between patients and health professionals [21].…”

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

“…Few studies have been published about development and utility of telemedicine genetics services across countries and cultures. A recent publication from the European Reference Network described the success of their first 28 cases from seven countries evaluated by telemedicine genetic using a secured web‐based platform to connect clinicians with relevant rare disease experts (Smith et al, 2020).…”

Редките Болести През 2020 Г. – Какво Научихме?

“…Те са именно и отговорът на редица специфични проблеми, свързани с редките болести -малък брой пациенти, разпръстнати на различни локации, и ограничен експертен опит, концентриран в отделни клинични центрове [1]. Телемедицината и електронното здравеопазване са свързващото звено между всички тях, като позволяват навременен и ефикасен достъп до медицински и здравни грижи [4]. Тази идея за здравеопазване във виртуална среда е заложена и като един от водещите приоритетите при реализирането на европейската политика за референтни мрежи за редки и комплексни заболявания [5].…”