Towards an EU Platform on Rare Diseases Registration

Transcription

1 Towards an EU Platform on Rare Diseases Registration Simona Martin Public Health Policy Support Unit Institute for Health and Consumer Protection Joint Research Centre Spanish Network of Rare Diseases Registries 1

2 European Commission s Strategy in the Field of Rare Diseases 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) 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 2

3 Directorate-General Joint Research Centre (DG JRC) Directorate-General Health and Consumers (DG SANCO) Development and Maintenance of the EU Platform on Rare Diseases Registration

4 EU Platform on Rare Diseases Registration Sustainability Use the output of EU-funded initiatives -EPIRARE, EJA, PARENT, etc. 4

5 EU Platform on Rare Diseases Registration At the European Commission's Joint Research Centre (JRC) The European Commission s in-house science service 5

6 The JRC in the European Commission President Jean-Claude Juncker 28 Commission Members Commissioner Tibor Navracsics Director-General Vladimír Šucha Joint Research Centre 6

7 European Commission Directorates General Directorates Institutes Units Scientific Units The JRC Established institutes in 5 countries 3000 permanent and temporary staff Budget: 450 million annually 7

8 The Mission of the Joint Research Centre 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 8

9 Institute for Health and Consumer Protection Director: K. Maruszewski Chemical Assessment and Testing Public Health Policy Support Molecular Biology and Genomics Nano- Biosciences Systems Toxicology P. Aguar C. Nicholl J. Kreysa H. Stamm M. Whelan

10 IHCP Policy Support Areas Genetically Modified Organisms Nanotechnology Public Health Healthcare Quality Nutrition Health Information Behavioural Sciences Medical Devices Food and Consumer Products Chemical Assessment and Alternatives to Animal Testing 10

11 EU Platform on Rare Diseases Registration Based on EUCERD Recommendations on rare disease patient registration and data collection 11

12 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 12

13 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 - guidelines for data sharing harmonisation, standardisation of data collection procedures; quality of data 13

14 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 14

15 EU Platform on Rare Diseases Registration - Objectives Support for new registries = service for beginners Shared tools for sharing data - 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.) 15

16 EU Platform on Rare Diseases Registration - Objectives 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 16

17 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 17

18 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 18

19 MEMBER STATES Patient registries Wide geographical coverage National registries Local registries EU PLATFORM Hospital registries Regional registries All sources of data considered ehr 19

20 EU Platform on Rare Diseases Registration European surveillance networks Network of population-based registries for the epidemiological surveillance of congenital anomalies - since covers 30% of the European birth population - 43 registries in 21 countries EUROCAT SCPE Network of populationbased registries for the surveillance of cerebral palsy - since countries 20

21 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 21

22