EuroGenTest Unit 2 Activity report

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

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

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

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. ORPHANET V4

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

9. ‘Rare diseases’ tab

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

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 Clinical signs • Review articles : • 466 review articles in English • 335 review articles in French

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 ExternalQualityAssessment

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 name By EUGT number

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. Click on the button to start the updating process Two possibilities E-mail in the database E-mail not in the database Verification: is the person already in an updating process? « Contact the Orphanet team » Two possibilities The person is already under update The person is not under update Captcha filter: 3 errors in typing 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 UPDATE YOUR DATA

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

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 !