Orphanet, partenaire des institutions internationales

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European Efforts on information databases for
genetic diseases and testing servicesValérie
Thibaudeau, PhD
Orphanet - INSERM SC11 Plateforme Maladies
Rares 102 rue Didot - 75014 Paris www.orpha.net
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Orphanet established 10 years ago

• French pilot project since January 1997
• At the request of Ministry of Health
• Developed by INSERM (French NIH)
• European project since 2000
• Funded by the European Commission (DG Public
  Health DG Research)
• Objective
• to contribute to the improvement of the
  diagnosis, care and treatment of patients with
  rare diseases (which includes all rare diseases)

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Orphanet, an information service
An encyclopedia
A directory of services In Europe

• About 1800 diseases
• 662 review articles English and French
• 1800 summaries in 6 languages
• Expert- authored
• Peer-reviewed International board
• Free access, online publication OJRD
• Partnership with EJHG

• 2,227 expert clinics
• 1,071 clinical labs
• 1,751 research labs
• 529 clinical trials
• 3,696 research projects
• 220 registries
• 367 networks
• 1,381 advocacy groups
• 7,920 professionals

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A set of services for all stakeholders
For patients

• Registration service to be enrolled in clinical
  research
•  Contact-a-patient  service

For health professionals

• Support to diagnosis
• Emergency guidelines

For all

• OrphaNews Europe

For researchers and Industry
For advocacy groups

• OrphanXchange to boost partnership between
  Academia and Industry

• Free of charge web services

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Orphanet, a tool for all stakeholders
20 000 daily users from 140 countries
Professionals (66)
Patients (34)

• MD in hospital
• Teachers/students
• MD in private practice
• Other professional
• Health prof. , non MD
• Experts in rare diseases
• Biologists
• Info scientist/media
• Pharmacist

19,8 10,8 8,1 8,3 4,6 4,4 2,5 1,6 1,3

• Patients
• Parents
• Family
• Other

13,3 8,0 6,2 6,5
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Dedicated teams all over Europe
And a team of 25 professionals in Paris
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Data collection in 35 countries
1997
2001
2002
2003
2004
2006
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Orphanet partnerships
EU HIGH LEVEL GROUP Reference centres in EU
mapping and recommendations
ECDG Public Health Secretariat Task Force of
rare diseases
EPPOSI Partnering workshops
EMEA Public database of orphan drugs
EuroGenTest Genetic testing
Scientific advice Conferences EC DG Research
Revision ICD 10 WHO
Human genes GenAtlas
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Classification and coding

New features of the database

• Classifications of rare diseases (all)
• by medical area, by mechanism, by gene, by main
  clinical expression, by etiology, by prevalence,
  by mode inheritance pattern, by age at onset

• Indexation with MeSH terms access to PubMed

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Clinical tests and clinical laboratories

• The EuroGentest project
• Establish a network of Quality across Europe
• Promote research, proper utilization, quality
  assurance and adequate management of genetic
  services
• Harmonize the accreditation and certification of
  genetic testing laboratories and the EQA schemes
• Establish procedures and guidelines for the
  validation of methods and technologies.

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Orphanet-EuroGenTest partnership
EuroGenTest contribution

• Team Els Dequeker (Leuven) and Mike Morris
  (Geneva)
• Collection and validation of info on quality
  assurance
• Accreditation of labs, Certification, EQA

Orphanet contribution

• All countries
• Collection of data on scope of activity

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Transborder flow of specimens rationale

• Good reasons
• Test not available in the country
• Higher quality of service abroad
• Part of a collaborative research study
• Debatable reasons
• Established network (commercial and non
  commercial) / exchange
• Cheaper test

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Transboarder flow of specimens Top senders

• Results from OECD survey
• USA to 14 countries
• UK to 13 countries
• Netherlands to 12 countries
• Spain to 12 countries
• Italy to 11 countries

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Transboarder flow of specimensTop receivers

• Results from OECD survey
• UK from 28 countries
• Germany from 28 countries
• France from 27 countries
• USA from 23 countries
• Italy from 23 countries
• Austria from 22 countries

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International co-operation

• OECD recommendations
• - networks for improving access to genetic
  testing for rare diseases
• - mutual recognition of EQA systems
• - guidelines storage, privacy and security
• Information on genetic tests
• - tests available in Europe / tests available in
  the US
• GeneClinics/Orphanet partnership ?

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• Thank you for your attention