1. Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information Databases for Genetic Diseases and Testing Services

2. Interoperability between Unit 1 and Unit 2 Validation of quality management information Orphanet EuroGentest Creation of new labs in Orphanet with quality data: Attribution of EUGT number Registration of laboratories Previous work flow

3. Interoperability between Unit 1 and Unit 2 Current work flow OrphanetEuroGentest Orphanet Database Registration of laboratories Validation of quality management data

4. Evolution of diagnostic data in Orphanet: From 2001 to present 1,288 clinical laboratories - 69 with accreditation - 199 EQA-participating - 50 with certification

5. 17,178 diagnostic tests registered within Orphanet Number of registered diagnostic tests per country

6. 7,316 diseases described within Orphanet Number of diseases screened in each country

7. ORPHANETV4

8. Several ways to search diagnostic tests and clinical laboratories Link to EuroGentest 3 tabs

9. Rare diseases tab

10. Unique Orpha number Stable what ever is the evolution of knowledge Linked to parent and child diseases in every classification Identity card Orpha nomenclature of diseases Direct link to PubMed: 2,510 diseases Epidemiology Indexed with class of prevalence: 2,508 diseases Indexed with mode of inheritance: 2,658 diseases Indexed with age of onset: 2,560 diseases Files available on request Suitable to code clinical activity / lab activity Indexation with ICD10 codes: 2,074 diseases Indexation with MIM codes: 4,381 diseases

11. Encyclopaedia in 5 langages Detailed abstracts: English: 2,553 summary information French: 2,480 summary information German: 2,071 summary information Italian: 2,248 summary information Spanish: 932 summary information Review articles : 466 review articles in English 335 review articles in French Clinical signs

12. Classifications of diseases

13. Simple search: by gene name or symbol 1,990 genes linked to 1,780 diseases

14. From diseases to healthcare resources

15. Diagnostic tests tab

16. …

17. Search options: Disease City Laboratory Professionnal Quality management data: Licensing Certification Accreditation External Quality Assessment

18. Simple search : by disease or gene name Links to : Gene and disease information EuroGentest

19. Simple search : by disease or gene name Detailed information on a clinical laboratory

20. Details on quality management of diagnostic tests

21. Sorting options Laboratories involved in quality management initiatives Location

22. Other search options: by disease and city

23. Other search options: by professional

24. Other search options: by laboratory By EUGT numberBy name

25. Link to EuroGentest website

26. Directory of resources tab

27. Search for a professional Detailed information on laboratory and activities

28. Search for a clinical laboratory Detailed information on activities and quality management data

29. Registration of diagnostic activities Three ways to access to registration forms

30. A common form for EuroGentest and Orphanet

31. Update processes

32. Annual updating process launched by Orphanet A tool designed for all Orphanet countries Each Orphanet team will list professionals to be included in the annual updating process Each selected professional will receive by e-mail a link to forms filled in with their registered data

33. Update forms One form for each registered address, containing the list of corresponding activities Details on each activity to be modified (or not) below

34. Administration interface For the Orphanet information scientist who will manage changes in the database

35. 3 errors in typing Click on the button to start the updating process UPDATE YOUR DATA E-mail not in the database E-mail in the database « Contact the Orphanet team » Verification: is the person already in an updating process? The person is not under update Captcha filter: Word is correct: Professional will receive an e-mail containing a link to the form with all his/her activities registered within Orphanet Occasional updating process launched by the professional The person is already under update Two possibilities

36. Nomenclature and classifications A service unique in the world Since October 2008

37. Rare Disease ORPHA number Epidemiological Data: Prevalence Age of onset Age of death Mode of inheritanceICD-10OMIM number MeSH descriptors PubMed queryGenes Clinical signs (Orphanet Controlled Vocabulary) Classifications

39. Orpha nomenclature Comprehensive list of rare diseases (<5,850) Identity card + genes Unique Orpha number Stable what ever is the evolution of knowledge Linked to parent and child disease in every classification Files available on request for use in information systems For research purpose At running cost for non-profit use + Material Transfer Agreement Classifications of rare diseases (by September 08) List of all published classifications Visualisation of each classification Possibility to click at any level to have the detailed information

44. Action Plan for 2009 Add new laboratories ? Add new countries Update information Communicate on all the new services Disseminate the Orpha nomenclature

45. Register your activity ! Enjoy the database !