Recommendations for centres of expertise in rare anaemias. The ENERCA White Book

摘要: The Community added value of Centres Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity these conditions, which implies both a small number patients scarcity expertise within single country. Gathering at level therefore, paramount in order ensure equal access accurate information, appropriate timely diagnosis quality clinical care follow up with diseases. This applies anaemias different that constitute this group. In context, Network Rare Congenital Anaemias (ENERCA), co-financed by Commission, was created 2002 aim prevention management (RA) development promotion policies improve well-being Union citizens. ENERCA White Book position paper, developed as deliverable (phase 3) project intends contribute creation ERN RA (ERN-RA) preparation recommendations and, particular, definition criteria CoE, local centres (LC) their interrelations have fulfil healthcare providers. It has been nourished all activities performed over past ten years framework. addressed authorities charge identifying an essential requirement official recognition ERN, national health authorities, Healthcare professionals, well other stakeholders interested RA. also patients, way empower community process. One particular characteristic integration three main aspects CoE: a) ethical legal frameworks non-discrimination non-stigmatisation disease across Europe, sphere competencies; b) laboratory defining technical including scope, general specific elements currently defined professional standards diagnosis, treatment follow-up RA; c) expectations CoE. Conceived working tool directed broad range stakeholders, book designed structured be comprehensible even non-technical /or non-professional audiences. reader will find up-to-date description epidemiological information on background CoE ERN-RA. A group experts profiles, known Working Group (EGRA). achieve its objectives, methodology used EGRA, characterised principles: Interdisciplinary, coverage, evidence-based principles. Work into four sequential steps: 1. Analysis current situation Europe professionals identify most relevant issues centre it recommended 2. Preparation questionnaires perform surveys how identified step 1 can translated practical recommendations. 3. questionnaire results face meetings, feedback consensus evaluation, 4. report policy presented user-friendly format, easy understand available through website (www.enerca.org). Several important conclusions drawn from Book, importance laboratories involved RA, patient oriented multidisciplinary need coordination cooperation outside centre, provision involvement public levels. Official structure assurance long term sustainability only achieved if work hand disciplines patients. Finally, aims Member States (MS) are preparing directory formally designated For this, MS recognise component included National Plans or Actions Diseases.