State of the Arts of Services  in Europe:  where are the problems ? 5the European Conference on Rare Diseases 2010 Krakow,...
<ul><li>Proper Health Care System </li></ul><ul><li>Infrastructures </li></ul><ul><li>Funding </li></ul><ul><li>Policy </l...
National Centres of Expertise
Designated centres of expertise: Positive effect documented in Denmark, France, Norway <ul><li>Countries with official RD ...
European Reference Networks  of Centres of Expertise Call for proposals from DG Public Health since 2007 Calls for proposa...
Current Pilot European Reference Networks of Centres of Expertise <ul><li>European network of  paediatric Hodgkin’s lympho...
Outcome so far…. <ul><li>Main areas for action: </li></ul><ul><ul><li>Establishment of a common patient registry / of a ne...
Molecular genetics services
Diagnostic tests are part  of quality healthcare <ul><li>Orphanet and EuroGentest provide information  </li></ul><ul><li>o...
Major progresses in gene identification translated into diagnostic tests Number of genes tested by country Number of disea...
Genes tested  in the greatest number of laboratories <ul><li>297 genes are tested in 1 laboratory only (19%) </li></ul><ul...
Quality Assurance of genetic services  <ul><li>107 laboratories are accredited for at least some part of their diagnostics...
Availability of innovative treatments
Over 60 new drugs on the EU market since 2000 but major differences in availability and accessibility at country level  (s...
Information services
Information sources  at country level  <ul><li>Orphanet portal:  </li></ul><ul><li>only in 5 languages (English, French, G...
Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract
A common portal / A diversity of sources
Challenges/Opportunities  for Orphanet <ul><li>Challenges </li></ul><ul><ul><li>Size of the topic to be covered: 7,000 dis...
Sources of data for clinical research
395 Registries as strategic tools Number of patient registries per country <ul><li>France 103 </li></ul><ul><li>Germany  5...
Characteristics of Patient Registries
60 International Patient Registries    around a medicinal product <ul><li>Cystic fibrosis </li></ul><ul><li>Alpha 1 anti-t...
Emergence of concepts and initiatives Centres of expertise  in Sweden 1990 OD office of French  Ministry Eurordis Orphanet...
Policy to develop services in MS <ul><li>Adopted </li></ul><ul><ul><li>2004: French Plan / 2010: 2 nd  French Plan </li></...
CONCLUSION <ul><li>Still major discrepancies between countries, mainly due to differences in health care systems and econo...
Report on initiatives and incentives 2009 www.eucerd.eu
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Sesion 2 segolene ayme eu krakow may 10

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Sesion 2 segolene ayme eu krakow may 10

  1. 1. 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
  2. 2. <ul><li>Proper Health Care System </li></ul><ul><li>Infrastructures </li></ul><ul><li>Funding </li></ul><ul><li>Policy </li></ul>Services addressing rarity <ul><li>Services for disabled: </li></ul><ul><li>Rehabilitation centres </li></ul>National policy and social forums Access to innovative therapies Support to patient groups <ul><li>Genetic services in each region: </li></ul><ul><li>Clinical services for diagnosis </li></ul><ul><li>Molecular/cytogenetics/ biochemistry laboratories </li></ul><ul><li>Genetic counseling </li></ul>Funding for network and registries Neonatal screening for additional diseases if relevant Specialised centres for disability due to RD <ul><li>Academic research: </li></ul><ul><li>Funding bodies </li></ul><ul><li>Call for proposals </li></ul>Neonatal screening for PKU and hypothyroidism Centres of expertise by disease / group of diseases <ul><li>Information in national languages: </li></ul><ul><li>Clinical guidelines </li></ul>Networks of laboratories by level / External quality assessment AVAILABILITY OF SERVICES AFFORDABILITY OF SERVICES
  3. 3. National Centres of Expertise
  4. 4. Designated centres of expertise: Positive effect documented in Denmark, France, Norway <ul><li>Countries with official RD centres: </li></ul><ul><ul><li>Denmark </li></ul></ul><ul><ul><li>France </li></ul></ul><ul><ul><li>Sweden </li></ul></ul><ul><ul><li>Norway </li></ul></ul><ul><ul><li>Italy </li></ul></ul><ul><ul><li>Spain </li></ul></ul><ul><li>Countries with official expert centres: </li></ul><ul><ul><li>Belgium </li></ul></ul><ul><ul><li>Austria </li></ul></ul><ul><ul><li>Czech Republic </li></ul></ul><ul><ul><li>Germany </li></ul></ul><ul><ul><li>Greece </li></ul></ul><ul><ul><li>Netherlands </li></ul></ul><ul><ul><li>Slovenia </li></ul></ul><ul><ul><li>Switzerland </li></ul></ul><ul><ul><li>UK </li></ul></ul>
  5. 5. European Reference Networks of Centres of Expertise Call for proposals from DG Public Health since 2007 Calls for proposals from DG Research since 2000
  6. 6. Current Pilot European Reference Networks of Centres of Expertise <ul><li>European network of paediatric Hodgkin’s lymphoma Project Leader: University of Leipzig (D) </li></ul><ul><li>European Network of Reference for Rare Paediatric Neurological Diseases (NEUROPED) Project Leader: European Network for Research on Alternating Hemiplegia (AT) </li></ul><ul><li>A reference network for Langerhans cell histiocytosis and associated syndromes Project Leader: Assistance Publique Hôpitaux de Paris (FR) </li></ul><ul><li>European Centres of Reference Network for Cystic Fibrosis (ECORN-CF) Project leader - Klinikum der Johann Wolfgang Goethe-Universität, Germany </li></ul><ul><li>European Network of Centres of Reference for Dysmorphology (Dyscerne) Project leader - University of Manchester, UK </li></ul><ul><li>Patient Associations and Alpha1 antitrypsin International Registry (PAAIR) Project leader - Stichting Alpha1 International Registry, the Netherlands </li></ul><ul><li>European Porphyria Network - providing better healthcare for patients and their families (EPNET) Project leader - Assistance Publique - Hôpitaux de Paris, France </li></ul><ul><li>European Network of Rare Bleeding Disorders Project leader - Università degli Studi di Milano, Italy </li></ul>
  7. 7. Outcome so far…. <ul><li>Main areas for action: </li></ul><ul><ul><li>Establishment of a common patient registry / of a network of registries </li></ul></ul><ul><ul><li>Establishment of a process to submit questions to the Experts </li></ul></ul><ul><ul><ul><li>Submission of questions and development of library of FAQs </li></ul></ul></ul><ul><ul><ul><li>Submission of clinical data for undiagnosed patients </li></ul></ul></ul><ul><ul><li>Development of clinical guidelines </li></ul></ul><ul><li>Common problems </li></ul><ul><ul><li>Funding for three years: Too short a period to produce any meaningful results </li></ul></ul><ul><ul><li>How to expand the network to cover more countries (criteria and funding) </li></ul></ul>
  8. 8. Molecular genetics services
  9. 9. Diagnostic tests are part of quality healthcare <ul><li>Orphanet and EuroGentest provide information </li></ul><ul><li>on available tests in Europe </li></ul><ul><li>and surrounding countries </li></ul>
  10. 10. Major progresses in gene identification translated into diagnostic tests Number of genes tested by country Number of diseases tested by country
  11. 11. Genes tested in the greatest number of laboratories <ul><li>297 genes are tested in 1 laboratory only (19%) </li></ul><ul><li>1,189 genes are tested in less than 10 labs (76%) </li></ul><ul><li>1,088 genes are tested in less than 5 countries (69%) </li></ul><ul><li>395 genes are tested in 1 country only (25% </li></ul>
  12. 12. Quality Assurance of genetic services <ul><li>107 laboratories are accredited for at least some part of their diagnostics activities: </li></ul>CPA standards 24 CCKL guidelines ISO 15189 ISO 17025 7 37 25 14 1 <ul><li>432 laboratories participated in at least one External Quality Assessment scheme during the last 5 years through 46 different EQA organisations </li></ul><ul><li>: 198 participating laboratories </li></ul><ul><li>: 155 participating laboratories </li></ul>
  13. 13. Availability of innovative treatments
  14. 14. Over 60 new drugs on the EU market since 2000 but major differences in availability and accessibility at country level (source: Eurordis Survey) 20-21 15-19 10-14 5-9 0-5
  15. 15. Information services
  16. 16. Information sources at country level <ul><li>Orphanet portal: </li></ul><ul><li>only in 5 languages (English, French, German, Italian, Spanish) today, </li></ul><ul><li>in more languages soon with front pages in all languages </li></ul>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
  17. 17. Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract
  18. 18. A common portal / A diversity of sources
  19. 19. Challenges/Opportunities for Orphanet <ul><li>Challenges </li></ul><ul><ul><li>Size of the topic to be covered: 7,000 diseases </li></ul></ul><ul><ul><li>Quick turn-over of knowledge / new scientific facts </li></ul></ul><ul><ul><li>Quick turn-over of information technologies </li></ul></ul><ul><ul><li>Multilinguism in Europe: 23 « official » languages </li></ul></ul><ul><ul><li>Diversity of health care systems and research systems in Europe </li></ul></ul><ul><li>Opportunities </li></ul><ul><ul><li>Core investment already made </li></ul></ul><ul><ul><li>Possibility to customise the website to adapt it to each country </li></ul></ul><ul><ul><li>Many new producers of information: learned societies, patient organisations, networks </li></ul></ul><ul><ul><li>Well-established website: successful partnership with scientific journals to provide free access to articles </li></ul></ul><ul><ul><li>New governance through a Joint Action in 2011 </li></ul></ul>
  20. 20. Sources of data for clinical research
  21. 21. 395 Registries as strategic tools Number of patient registries per country <ul><li>France 103 </li></ul><ul><li>Germany 51 </li></ul><ul><li>Great Britain 50 </li></ul><ul><li>Italy 47 </li></ul><ul><li>Spain 28 </li></ul><ul><li>Belgium 19 </li></ul><ul><li>Netherlands 10 </li></ul><ul><li>Austria 13 </li></ul><ul><li>Ireland 9 </li></ul><ul><li>Portugal 7 </li></ul><ul><li>Switzerland 6 </li></ul><ul><li>Greece 2 </li></ul><ul><li>Bulgaria 4 </li></ul><ul><li>Denmark 3 </li></ul><ul><li>Romania 2 </li></ul><ul><li>Orphanet Report Series on Orphanet front page </li></ul>
  22. 22. Characteristics of Patient Registries
  23. 23. 60 International Patient Registries around a medicinal product <ul><li>Cystic fibrosis </li></ul><ul><li>Alpha 1 anti-trypsin </li></ul><ul><li>Bleeding disorders </li></ul><ul><li>Langerhans cell histiocytosis </li></ul><ul><li>Severe chronic neutropenia </li></ul><ul><li>Biliary atresia </li></ul><ul><li>Neuromuscular diseases </li></ul><ul><li>Wilson disease </li></ul><ul><li>Fanconi anemia </li></ul><ul><li>Pulmonary hypertension </li></ul><ul><li>Metabolic diseases: Gaucher, Fabry, Pompe, MPS1… </li></ul><ul><li>Ondine syndrome </li></ul><ul><li>Primary immunodeficiencies </li></ul><ul><li>Retinal dystrophies </li></ul><ul><li>Huntington disease </li></ul>
  24. 24. Emergence of concepts and initiatives Centres of expertise in Sweden 1990 OD office of French Ministry Eurordis Orphanet France EC communication Orphanet Europe OD regulation Danish RD Centres French Plan RDTF EUCERD Council Recommendation ECRD Copenhagen ECRD Paris ECRD Luxembourg ECRD Lisbon ECRD Cracow Danish information centre Bulgarian Plan Greek Plan Portugese Plan Spanish Strategy Italian RD decree Swedish information centre 2000 2002 2004 2006 2008 2010 Development of a community of stakeholders Establishment of infrastructures EU policy defined Member States’ policy
  25. 25. Policy to develop services in MS <ul><li>Adopted </li></ul><ul><ul><li>2004: French Plan / 2010: 2 nd French Plan </li></ul></ul><ul><ul><li>2008: Portuguese Plan </li></ul></ul><ul><ul><li>2008: Greek Plan </li></ul></ul><ul><ul><li>2009: Bulgarian Plan </li></ul></ul><ul><ul><li>2009: Spanish Strategy </li></ul></ul><ul><li>In preparation </li></ul><ul><ul><li>Austria </li></ul></ul><ul><ul><li>Belgium </li></ul></ul><ul><ul><li>Czech Republic </li></ul></ul><ul><ul><li>Germany </li></ul></ul><ul><ul><li>Italy </li></ul></ul><ul><ul><li>Romania </li></ul></ul><ul><ul><li>UK </li></ul></ul><ul><li>First steps taken </li></ul><ul><ul><li>Cyprus </li></ul></ul><ul><ul><li>Finland </li></ul></ul><ul><ul><li>Luxembourg </li></ul></ul><ul><ul><li>Lithuania </li></ul></ul><ul><ul><li>Malta </li></ul></ul><ul><ul><li>Norway </li></ul></ul><ul><ul><li>Poland </li></ul></ul><ul><ul><li>Sweden </li></ul></ul><ul><ul><li>Turkey </li></ul></ul>
  26. 26. CONCLUSION <ul><li>Still major discrepancies between countries, mainly due to differences in health care systems and economic situation </li></ul><ul><li>Necessity to agree on cross-border activities: </li></ul><ul><ul><li>Networks: mix research and clinics – long term committment </li></ul></ul><ul><ul><li>Establish a strategy for cross border biological testing </li></ul></ul><ul><ul><li>Public/private partnership for patient registries </li></ul></ul><ul><ul><li>Joint effort to produce clinical guidelines / information in general </li></ul></ul><ul><li>Close surveillance of policy developments </li></ul><ul><ul><li>EUCERD annual report at www.eucerd.eu </li></ul></ul><ul><ul><li>OrphaNews Europe at www.orpha.net </li></ul></ul><ul><li>Dialogue and cooperation between stakeholders </li></ul><ul><ul><li>EUCERD as the tool </li></ul></ul>
  27. 27. Report on initiatives and incentives 2009 www.eucerd.eu

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