towards an eu platform on rare diseases registration for health and consumer protection joint...

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


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)


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


Sustainability

Use the output of EU-funded initiatives

-EPIRARE, EJA, PARENT, etc.

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At the European Commission's Joint Research Centre (JRC)

The European Commission’s in-house science service


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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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


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

http://www.sxc.hu/browse.phtml?f=download&id=1045051

http://www.cc.cec/galleries/jrc/main.php?g2_itemId=15083&g2_imageViewsIndex=1


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


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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


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Based on

EUCERD Recommendations

on rare disease patient registration and data collection



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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


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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


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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


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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



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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



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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


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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


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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


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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



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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

towards an eu platform on rare diseases registration for health and consumer protection joint...

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