"SHARE. CARE. CURE." – A EUROPEAN REFERENCE NETWORK FOR RARE INFECTIOUS DISEASES

Abstract

Dear editors, Rare diseases are considered as diseases or conditions of public health concern at European level, and a priority to be included in the context of the European Health Union [1]. The European definition of a rare medical disease or condition is established on the low prevalence, meaning less than five affected persons per 10,000 people (not more than one person per 2000 in the European population [2]. According to Orphanet, a European portal for rare diseases and orphan drugs, currently, there are over 6000 known rare diseases, most of them have a genetic background. Some rare diseases are caused by a combination of genetic and environmental factors. Other rare diseases can be non-genetic - there are rare forms of infectious diseases (bacterial or viral), auto-immune diseases, toxic disorders, and rare cancers. In other cases, the cause of rare diseases is still unknown. At EU level has been established an appropriate public health policy and professional care on rare diseases. European Reference Networks (ERN) are part of this public health policy. ERNs are virtual networks involving healthcare providers across Europe. They aim to tackle complex or rare medical diseases or conditions that require highly specialised treatment and a concentration of knowledge and resources [3]. The fundamental principle of ERNs is share, care, and cure. ERNs use specific telemedicine tools and IT solutions, thus the medical knowledge, best practices, and clinical expertise travel rather than the patient. In the European Union, it is estimated that 30 million people are living with a complex, often chronic, and progressive, rare disease. If we are looking for statistics on rare diseases, it is obviously that individual diseases may be rare, but collectively are common. Moreover, a rare disease may be rare in one region, but common in another. The limited number of patients, widely geographically dispersed affected people, lack of scientific knowledge and medical expertise were barriers in providing quality healthcare services for people with rare diseases. The former European Commissioner for Health, and Food Safety, Vytenis Andriukaitis, considered that “no country alone has knowledge and capacity to treat all rare and complex conditions” [4]. So, in 2017, the European Reference Networks launched to enable the exchange of all the available knowledge and expertise on rare diseases between EU State Members. To date, there are 24 thematic networks working on a wide range of rare non-communicable conditions, such as ERN-BOND on bone disorders, ERN-CRANIO on craniofacial anomalies, EndoERN on endocrine conditions, EuroBloodNet on haematological diseases, ERN LUNG on respiratory diseases, etc. Information about all ERNs on rare diseases are available at: https://ec.europa.eu/ health/european-reference-networks/overview_en. The ERNs were developed by the EU and national governments to facilitate improvements in access to diagnosis, treatment, and provision of affordable, high-quality, and cost-effective healthcare for transforming the lives of all patients [4]. In 2020, it was published a study on the opportunity of setting a European Expert Network on Rare diseases linked to Mobility and Globalisation (EURaDMoG). The study funded by the EU aimed to improve healthcare provision with regards to “imported diseases” brought by a mobile population coming from tropical countries [5]. The list of rare communicable diseases linked to mobility and globalisation identified throughout the EURaDMoG study is available at https://op.europa. eu/en/publication-detail/-/publication/0606dc45-5c 3b-11ea-8b81-01aa75ed71a1/language-en (Annex 1, page 54) [5]. Imported diseases are not familiar to European health professionals. Population movements, such as global mobility related to tourism or trade, labour migration, family reunification, and refugees, are linked to the spread and control of communicable diseases. The field has recently been recognized as a new challenge as the rare communicable diseases have been found to be prevalent only in mobile populations coming from tropical countries [6]. Thus, Lindenmeyer et al., 2016, noted the need for additional work to improve the knowledge gap among different categories of health care providers [7]. EURaDMog study made a thorough and context-specific assessment on how successfully would be a European expert Network on rare diseases liked to mobility and globalization. The study considered different scenarios, conducted a comprehensive literature review in the field, organised a consultation workshop, and made an overall 364 feasibility assessment. It is important to acknowledge, that the study compared how diagnosis and treatment of rare diseases, both non-communicable and communicable, are covered by existing ERNs. The results of the study indicated that more than 130 infections were identified. They were considered rare conditions in the EU28 and EEA (European Economic Area) countries and were linked to mobility and globalisation. The study revealed that these rare conditions have no appropriate or widely available diagnostic techniques and treatments [5]. Moreover, rare non-communicable diseases linked to mobility and globalisation are covered by 24 different thematic networks. Focussing on rare communicable conditions, the study analysed the current European Network dealing with such conditions. In Europe, most of expert networks focussing on tropical medicine, travel medicine or parasitology organisations are mainly involved in research and training activities and do not provide health care services. Other networks with some focus on health care provision and patient care essentially improved through exchange of information, continuous education, and training of health professionals such as TROPNET (European Network for Tropical Medicine and Travel Health), EuroTravNet (European Travel and Tropical network of the International Society of travel Medicine), and EVDLabNet (European expert laboratory network for emerging viral diseases) do not cover all rare communicable diseases, are functioning with low resources, and most of them are private [8]. Additionally, most of them are not recognised by national health care systems. The study assessed the establishment of the network, thematic area to be covered, data registry, improving the health care provision, governance, coordination and management of the network, patient care, continuous education, training and development, research activities, multidisciplinary approach, networking and collaboration, funding sources and sustainability. This study concluded that, in EU and EEA, rare communicable diseases in the new context of mobility and globalisation are not sufficiently covered by existing expert networks. The new potential network should be complementary to the current existing networks. In no circumstances, it is not seen as a duplication of current network. The ERN can bring real added value to improve the health care provision of rare communicable diseases [5]. Recommendations of the study should be discussed with Member States policymakers.