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Session 2 segolene_ayme
 

Session 2 segolene_ayme

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    Session 2 segolene_ayme Session 2 segolene_ayme Presentation Transcript

    • State of the Arts of Services in Europe: where are the problems ? 5the European Conference on Rare Diseases 2010 Krakow, Poland, 13 may 2010 [email_address] Paris, France
      • Proper Health Care System
      • Infrastructures
      • Funding
      • Policy
      Services addressing rarity
      • Services for disabled:
      • Rehabilitation centres
      National policy and social forums Access to innovative therapies Support to patient groups
      • Genetic services in each region:
      • Clinical services for diagnosis
      • Molecular/cytogenetics/ biochemistry laboratories
      • Genetic counseling
      Funding for network and registries Neonatal screening for additional diseases if relevant Specialised centres for disability due to RD
      • Academic research:
      • Funding bodies
      • Call for proposals
      Neonatal screening for PKU and hypothyroidism Centres of expertise by disease / group of diseases
      • Information in national languages:
      • Clinical guidelines
      Networks of laboratories by level / External quality assessment AVAILABILITY OF SERVICES AFFORDABILITY OF SERVICES
    • National Centres of Expertise
    • Designated centres of expertise
      • Countries with official RD centres:
        • Denmark
        • France
        • Sweden
        • Norway
        • Italy
        • Spain
      • Countries with official expert centres:
        • Belgium
        • Austria
        • Czech Republic
        • Germany
        • Greece
        • Netherlands
        • Slovenia
        • Switzerland
        • UK
    • European Networks Call for proposals from DG Public Health since 2007 Calls for proposals from DG Research since 2000
    • Current Pilot European Reference Networks of Centres of Expertise
      • European network of paediatric Hodgkin’s lymphoma Project Leader: University of Leipzig (D)
      • European Network of Reference for Rare Paediatric Neurological Diseases (NEUROPED) Project Leader: European Network for Research on Alternating Hemiplegia (AT)
      • A reference network for Langerhans cell histiocytosis and associated syndromes Project Leader: Assistance Publique Hôpitaux de Paris (FR)
      • European Centres of Reference Network for Cystic Fibrosis (ECORN-CF) Project leader - Klinikum der Johann Wolfgang Goethe-Universität, Germany
      • European Network of Centres of Reference for Dysmorphology (Dyscerne) Project leader - University of Manchester, UK
      • Patient Associations and Alpha1 antitrypsin International Registry (PAAIR) Project leader - Stichting Alpha1 International Registry, the Netherlands
      • European Porphyria Network - providing better healthcare for patients and their families (EPNET) Project leader - Assistance Publique - Hôpitaux de Paris, France
      • European Network of Rare Bleeding Disorders Project leader - Università degli Studi di Milano, Italy
    • Outcome so far….
      • Main areas for action:
        • Establishment of a common patient registry / of a network of registries
        • Establishment of a process to submit questions to the Experts
          • Submission of questions and development of library of FAQs
          • Submission of clinical data for undiagnosed patients
        • Development of clinical guidelines
      • Common problems
        • Funding for three years: Too short a period to produce any meaningful results
        • How to expand the network to cover more countries (criteria and funding)
    • Molecular genetics services
    • Diagnostic tests are part of quality healthcare
      • Orphanet and EuroGentest provide information
      • on available tests in Europe
      • and surrounding countries
    • Major progresses in gene identification translated into diagnostic tests Number of genes tested by country Number of diseases tested by country
    • Genes tested in the greatest number of laboratories
      • 297 genes are tested in 1 laboratory only (19%)
      • 1,189 genes are tested in less than 10 labs (76%)
      • 1,088 genes are tested in less than 5 countries (69%)
      • 395 genes are tested in 1 country only (25%
    • Quality Assurance of genetic services
      • 107 laboratories are accredited for at least some part of their diagnostics activities:
      CPA standards 24 CCKL guidelines ISO 15189 ISO 17025 7 37 25 14 1
      • 432 laboratories participated in at least one External Quality Assessment scheme during the last 5 years through 46 different EQA organisations
      • : 198 participating laboratories
      • : 155 participating laboratories
    • Availability of innovative treatments
    • Availability at national level in 2007 of the 22 first OMPs authorised at EU level before 1 January 2006 (source: Eurordis Survey) 20-21 15-19 10-14 5-9 0-5
    • Information services
    • Information sources at country level
      • Orphanet portal:
      • only in 5 languages (English, French, German, Italian, Spanish) today,
      • in more languages soon with front pages in all languages
      Country National information centres National helplines Bulgaria x x Denmark x x Finland x France x x Germany x Italy x x Norway x x Sweden x Spain x x UK x x
    • Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract
    • A common portal / A diversity of sources
    • Challenges/Opportunities for Orphanet
      • Challenges
        • Size of the topic to be covered: 7,000 diseases
        • Quick turn-over of knowledge / new scientific facts
        • Quick turn-over of information technologies
        • Multilinguism in Europe: 23 « official » languages
        • Diversity of health care systems and research systems in Europe
      • Opportunities
        • Core investment already made
        • Possibility to customise the website to adapt it to each country
        • Many new producers of information: learned societies, patient organisations, networks
        • Well-established website: successful partnership with scientific journals to provide free access to articles
        • New governance through a Joint Action in 2011
    • Sources of data for clinical research
    • 395 Registries as strategic tools Number of patient registries per country
      • France 103
      • Germany 51
      • Great Britain 50
      • Italy 47
      • Spain 28
      • Belgium 19
      • Netherlands 10
      • Austria 13
      • Ireland 9
      • Portugal 7
      • Switzerland 6
      • Greece 2
      • Bulgaria 4
      • Denmark 3
      • Romania 2
      • Orphanet Report Series on Orphanet front page
    • Characteristics of Patient Registries
    • 60 International Patient Registries around a medicinal product
      • Cystic fibrosis
      • Alpha 1 anti-trypsin
      • Bleeding disorders
      • Langerhans cell histiocytosis
      • Severe chronic neutropenia
      • Biliary atresia
      • Neuromuscular diseases
      • Wilson disease
      • Fanconi anemia
      • Pulmonary hypertension
      • Metabolic diseases: Gaucher, Fabry, Pompe, MPS1…
      • Ondine syndrome
      • Primary immunodeficiencies
      • Retinal dystrophies
      • Huntington disease
    • Policy to develop services in MS
      • Adopted
        • 2004: French Plan / 2010: 2 nd French Plan
        • 2008: Portuguese Plan
        • 2008: Greek Plan
        • 2009: Bulgarian Plan
        • 2009: Spanish Strategy
      • In preparation
        • Austria
        • Belgium
        • Czech Republic
        • Germany
        • Italy
        • Romania
        • UK
      • First steps taken
        • Cyprus
        • Finland
        • Luxembourg
        • Lithuania
        • Malta
        • Norway
        • Poland
        • Sweden
        • Turkey
    • CONCLUSION
      • Still major discrepancies between countries, mainly due to differences in health care systems and economic situation
      • Necessity to agree on cross-border activities:
        • Networks: mix research and clinics – long term committment
        • Establish a strategy for cross border biological testing
        • Public/private partnership for patient registries
        • Joint effort to produce clinical guidelines / information in general
      • Close surveillance of policy developments
        • EUCERD annual report at www.eucerd.eu
        • OrphaNews Europe at www.orpha.net
      • Dialogue and cooperation between stakeholders
        • EUCERD as the tool
    • Report on initiatives and incentives 2009 www.eucerd.eu