Journal of Rare Disorders: Diagnosis & Therapy

Editorial

Rare diseases (RD) are conditions that affect less than 5 per 10,000 individuals in the general population, and that require a concentration of resources and expertise in order to provide high-quality, cost-effective care. Since 2002, the European Reference Network for rare and Congenital Anaemias (ENERCA) has contributed to promote two pivotal aspects of the 2011 EU Directive on patients’ rights in cross-border healthcare: 1) A specific framework for cross-border healthcare and 2) A European cooperation for helping in the diagnosis and follow up of patients [1]. After 2013, the EC has approved the co-financing of ENERCA Project for a further three years (2014-2016), with the aim of implementing ehealth information and communication technologies (ICT) in order to assure the same access to health services, independently from the place of residence. This new Project, called e-ENERCA, is using the most innovative ICT to create a pan-European interoperable e-health platform for electronic registry (e-registry), on-line teaching (e-learning) and telediagnosis (e-medicine), avoiding, when possible, the need of patient's or experts travelling.

Article 12 of the 2011 EU Directive mentioned before, sets out a mix of Commission responsibilities and provisions to support Member States (MS) in the development of European Reference Networks (ERN) linking healthcare providers (HCP) and centres of expertise (CoE) from the different EU Member States [2]. However, since there are more than 7,000 Rare Diseases (RD), in order to avoid individual RD applications for ERN, the EC has grouped all these diseases into 23 different ERN, essentially based of medical specialties (Table 1). Based on more than 12 years of experience in networking and RAs healthcare recommendations [3], ENERCA has decided to apply for ERN in Rare haematological diseases (RHD) by expanding its working plan to white blood cell and platelets disorders, in addition to rare anaemias. After the publication of the Call for Interest for ERN on March 2016 [4], ENERCA and the European Haematology Association (EHA) have decided to prepare a common application for a ERN in Rare Haematological Diseases, known as EuroBloodNet, that includes non-oncological or benign” (Table 2) and oncological or “malignant” (Table 3) RHD. According to EC requirements for ERN application, it is mandatory to include a minimum of 10 Health Providers (HCP) from at least 8 Member States (MS).

Table 1: Proposed European Reference Networks (ERNs).

Table 2: Eurobloodnet: Rare non-oncological diseases.

Table 3: Eurobloodnet: Rare oncological diseases.

These objectives are largely accomplished by EuroBloodNet that, if approved, will implement 5 main actions: 1) Enhance the equality in the care delivery for RHD across Europe by the establishment of and European inventory of experts, centres, and facilities in RHD, Mapping of European centres of Expertise (CoE), collecting patient’s data and patient’s registry and assure the cross border patient’s transferal system. 2) Facilitate the harmonization of the haematology specialties curricula by improving continuing medical education on RHD (Training courses), promoting blended learning by on site and on-line learning (e-learning platform) and promote the diffusion and implementation of existing guidelines, 3) Provide interprofessional consultation by sharing of knowledge and exchange of clinical information.

This will contribute to the decrease in the number of undiagnosed/misdiagnosed patients, facilitate the remote diagnosis of complex cases (Telemedicine platform) and improve patient care by building bridges between health professionals and experts in distant locations, 4) Promote the best practices in prevention, diagnosis and clinical care across Europe by gathering of existing protocols, national programs, recommendations and guidelines, promoting harmonization of procedures for diagnosis and the development of EQAS, assessment of existing guidelines and/or implementation and developing new guidelines and, 5) Foster European cooperation in specialized diagnosis, health care and research by promoting clinical trials, facilitate the provision of omics platforms and new technologies and provide support research in drug-able targets identification, gene therapy and pathophysiology.

To implement these different actions, EuroBloodNet will use the same transversal fields of support action as used by ENERCA, but expanded to all rare haematological diseases: Registry, Training, Telemedicine, Guidelines & Prevention and research & Clinical trials [5].

Once established, the European Reference Network for Rare Haematological Diseases (EuroBloodNet) will include, at least 20 different European Countries (Figure 1) and will closely collaborate with other centers of expertise and networks at national and international levels. This will be a crucial step to improve the services for clinical management of both malignant and non-malignant rare haematological diseases, as well the education and patient’s social care. Moreover, patients and health professionals will have an easy access to recognized centres of expertise for each rare haematological disease category and in turn, new opportunities to undertake innovative and useful actions based on the ERN.

Figure 1: European countries who have expressed interest to pertain to Eurobloodnet.

Acknowledgment

We are indebted to ENERCA Consortium and to the European Haematology Association (EHA) for their coordinate efforts in the preparation and submission of the ERN in Rare Haematological Diseases (EuroBloodNet), and to the European Commission (EC) DG-SANCO and the Executive Agency for Consumers, Health, and Agriculture Food (CHAFEA) for cofinancing, from 2002 to 2016, the four phases of ENERCA Project.

References

1. VivesCorrons JL, Mañú Pereira MM (2015) Enerca: the european network for patients with rare anaemias. J Rare Dis Diagn Ther 1: 1-4
2. The European Parliament and the Council of the European Union (2011) Directive 2011/24/EU of the European Parliament and of the Council.
3. Enerca: Recommendations for Centres of Expertise in Rare Anaemias (2014) A white Bo ok.
4. European Reference Networks Board of Member States Statement adopted by the ERN BoMS on affiliated partners (2016) European networks of reference for rare diseases.
5. VivesCorrons JL (2016) European reference network in hematology-the opportunity to boost hematology research, treatment and care.