towards an eu platform on rare diseases registration for health and consumer protection joint...
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Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
Towards an EU Platform on Rare Diseases Registration
Simona Martin
Public Health Policy Support Unit
Institute for Health and Consumer Protection
Joint Research Centre
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Spanish Network of Rare Diseases Registries
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
European Commission’s Strategy in the Field of Rare Diseases
1. To improve recognition and visibility on rare diseases
2. To support policies on rare diseases in the Member States
3. To develop European cooperation, coordination and regulation
for rare diseases
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Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on “Rare Diseases: Europe’s challenges” (2008)
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
Directorate-General Directorate-General
Joint Research Centre Health and Consumers
(DG JRC) (DG SANCO)
Development and Maintenance of the
EU Platform on Rare Diseases Registration
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
Sustainability
Use the output of EU-funded initiatives
-EPIRARE, EJA, PARENT, etc.
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EU Platform on Rare Diseases Registration
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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At the European Commission's Joint Research Centre (JRC)
The European Commission’s in-house science service
EU Platform on Rare Diseases Registration
www.jrc.ec.europa.eu
The JRC in the European Commission
Commissioner
Tibor Navracsics
President
Jean-Claude Juncker
28 Commission Members
Director-General
Vladimír Šucha
Joint Research Centre
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www.jrc.ec.europa.eu
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Established 1957
7 institutes in 5 countries
3000 permanent and
temporary staff
Budget: €450 million annually
European Commission
Directorates General
Directorates Institutes
Units Scientific Units
The JRC
www.jrc.ec.europa.eu
The Mission of the Joint Research Centre
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To provide scientific and technical support for the conception,
development, implementation and monitoring of EU policies
Close to the policy-making process, it serves the common interest of
the Member States, while being independent of private or national
special interests
www.jrc.ec.europa.eu
Public Health
Policy Support
C. Nicholl
Molecular
Biology and
Genomics
J. Kreysa
Nano-
Biosciences
H. Stamm
Systems
Toxicology
M. Whelan
Chemical
Assessment
and Testing
P. Aguar
Director: K. Maruszewski
Institute for Health and Consumer Protection
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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IHCP Policy Support Areas
Genetically Modified
Organisms
Nanotechnology
Public Health
Food and Consumer Products
Chemical Assessment and
Alternatives to Animal Testing
Healthcare Quality
Nutrition
Health Information
Behavioural Sciences
Medical Devices
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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Based on
EUCERD Recommendations
on rare disease patient registration and data collection
EU Platform on Rare Diseases Registration
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration - Objectives
Unique entry point to access all EU data collections in the field of rare diseases (“hub”)
Source of information on all sources of data collections:
document all existing registries
document what data is collected
rules and procedures for access to data
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration - Objectives
Promotion of interoperability between registries - common data elements - for RD in general
- by disease/group of diseases
EUCERD-JA Working Group on Registries
common data set based on contributions from Member States and EU-funded projects: EPIRARE, PARENT-JA
semantic interoperability
harmonisation, standardisation of data collection procedures; quality of data
- guidelines for data sharing
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration - Objectives
Promotion of interoperability between registries
international nomenclature to code diagnose Workshop on rare diseases codification (JRC/EUCERD-JA) JRC-Ispra, 1-2 October 2014
Representatives of national coding agencies
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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Support for new registries
- IT tools (data collection, data transmission)
- guidelines (data quality, data protection, ethical issues, etc.)
- standards (terminology, outcome measures, etc.)
- training (running registries, data quality, data protection, ethical issues, etc.) = service for beginners Shared tools for sharing data
EU Platform on Rare Diseases Registration - Objectives
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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Support for existing registries Support for data producers:
- provision of shared IT tools for data collection and
data analysis)
- guidelines (data quality, etc.)
- training (standards, terminology, etc.)
Shared tools for sharing data: defining at EU level a framework for data collection using
common tools and procedures
EU Platform on Rare Diseases Registration - Objectives
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration - Functions
Reaching the critical mass of data for
epidemiological, clinical, translational studies, research comparisons between Member States, between diseases = maximising the output of individual registries
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration - Functions
Reference for EU Member States policy makers,
steer health policy Interaction with international RD initiatives involving registries activities (IRDiRC, RD-Connect, GRDR, etc.) Link with biobanks and –”omics” data
Integration of RD data in the wider context of health information, environmental data
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU PLATFORM
National registries Regional
registries
Local registries
Hospital registries
MEMBER STATES Patient
registries
All sources of data considered eHR
Wide geographical coverage
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EUROCAT SCPE
European surveillance networks
Network of population-based registries for the epidemiological surveillance of congenital anomalies - since 1979 - covers 30% of the European birth population - 43 registries in 21 countries
Network of population-based registries for the surveillance of cerebral palsy - since 1998 - 21 countries
EU Platform on Rare Diseases Registration
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission
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EU Platform on Rare Diseases Registration
Tool to ease and speed up research
for all RD, across all Member States, open internationally neutral from the specificity of RD, MS, stakeholders
Sustainable solution: long-term repository of data Instrument to avoid wasting of resources:
duplication of efforts in developing tools for each registry
waste of data: use for different types of studies waste of expertise
Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission