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

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

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

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

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

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

ORPHANETV4

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

Rare diseases tab

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

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

Classifications of diseases

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

From diseases to healthcare resources

Diagnostic tests tab

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

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

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

Details on quality management of diagnostic tests

Sorting options Laboratories involved in quality management initiatives Location

Other search options: by disease and city

Other search options: by professional

Other search options: by laboratory By EUGT numberBy name

Link to EuroGentest website

Directory of resources tab

Search for a professional Detailed information on laboratory and activities

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

Registration of diagnostic activities Three ways to access to registration forms

A common form for EuroGentest and Orphanet

Update processes

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 a link to forms filled in with their registered data

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

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

3 errors in typing Click on the button to start the updating process UPDATE YOUR DATA not in the database 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 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

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

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

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

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

Register your activity ! Enjoy the database !