session 2 segolene_ayme
TRANSCRIPT
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State of the Arts of Services in Europe:
where are the problems ?
5the European Conference on Rare Diseases 2010
Krakow, Poland, 13 may 2010
Paris, France
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Proper Health Care System•Infrastructures•Funding•Policy
Services addressing rarity
AVAILABILITY OF SERVICES
AFFORDABILITY OF SERVICES
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
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National Centres of Expertise
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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
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European Networks
Call for proposals from DG Public Health since 2007
Calls for proposals from DG Research
since 2000
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Current Pilot European Reference Networksof 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
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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)
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Molecular genetics services
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Diagnostic tests are part of quality healthcare
Orphanet and EuroGentest provide information
on available tests in Europe
and surrounding countries
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Major progresses in gene identification translated into diagnostic tests
Number of genes tested by country Number of diseases tested by country
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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%
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Quality Assurance of genetic services
107 laboratories are accredited for at least some part of their diagnostics activities:
CPA standards24
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
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Availability of innovative treatments
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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
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Information services
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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
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Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract
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A common portal / A diversity of sources
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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
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Sources of data for clinical research
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395 Registries as strategic toolsNumber 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
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Characteristics of Patient Registries
Regional
National
European
Global
Academia
Patient organisation
Industry
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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
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Policy to develop services in MS
Adopted• 2004: French Plan / 2010: 2nd 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
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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
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Report on initiatives and incentives 2009
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