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Orphanet Database of clinical labs ICORD meeting

Orphanet Database of clinical labs ICORD meeting. Brussels, 14 September 2007. Database mission. Provide information on available tests in Europe Ensure reliability of information Promote quality. Content of the database. Orphanet Partners. Directory of services. EuroGenTest partnership.

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Orphanet Database of clinical labs ICORD meeting

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  1. OrphanetDatabase of clinical labsICORD meeting Brussels, 14 September 2007

  2. Database mission • Provide information on available tests in Europe • Ensure reliability of information • Promote quality

  3. Content of the database

  4. Orphanet Partners

  5. Directory of services

  6. EuroGenTest partnership

  7. EuroGentest purpose • To structure, harmonize and improve the overall quality of genetic testing services • To support the accreditation/certification of clinical labs • To facilitate the organisation of EQA schemes • To provide guidelines for genetic testing services

  8. Principles of the collaboration (1) • Total collaboration in the field of information • Shared database of labs • Accessible from both websites • Online questionaires • Responsibilities: • Orphanet: data collection: clinical labs activity • EuroGentest: validation of accreditation/EQA

  9. Principles of the collaboration (2) • Accreditation/Certification : collection of data about the Quality Assurance system of clinical labs • EQA (External Quality Assessment) : collection of data about the participation to external quality control schemes during the past two years • Licensing : collection of data about the legal autorisation for providing different genetic testing.

  10. Evolution of the Website v4 ORPHANET 10 years of services to rare diseases PARIS 15 February 2007

  11. New features of the database…. • Classifications of rare diseases / Search facility • by medical area • by mechanism • by gene • by main clinical expression • by etiology, • by prevalence • by mode inheritance pattern • by age at onset

  12. New features of the database…. • Information on clinical laboratories • Quality manager • Accreditation • Certification • Licensing • EQA • Genes tested • Networks/Reference labs

  13. Orphanet users Survey of May 2007

  14. Orphanet Worldwide

  15. Website Users

  16. Areas for collaboration • Exchange of files diseases/genes/OMIM • for quality control • Survey of tests not available in Europe • If so provide information on labs from other regions of the world • Difficulties: • GeneTest register already many European labs • Difficulties up to now to match the tests • Cross referencement of databases

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