leuven 2008, november 20 th & 21 st eurogentest unit 2 activity report dr ségolène ayme,...
TRANSCRIPT
![Page 1: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/1.jpg)
Leuven2008, November 20th & 21st
EuroGenTest Unit 2EuroGenTest Unit 2Activity reportActivity report
Dr Ségolène AYME, Mariana JOVANOVIC
Ioana CARON
European Efforts on Information European Efforts on Information Databases for Genetic Diseases and Databases for Genetic Diseases and
Testing ServicesTesting Services
![Page 2: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/2.jpg)
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
![Page 3: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/3.jpg)
Interoperability between Unit 1 and Unit 2
Current work flow
Orphanet EuroGentest
Orphanet Database
Registration of laboratories
Validation of quality management data
![Page 4: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/4.jpg)
Evolution of diagnostic data in Orphanet:From 2001 to present
1,288 clinical laboratories
- 69 with accreditation - 199 EQA-participating- 50 with certification
![Page 5: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/5.jpg)
17,178 diagnostic tests registered within Orphanet
Number of registered diagnostic tests per country
![Page 6: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/6.jpg)
7,316 diseases described within Orphanet
Number of diseases screened in each country
![Page 7: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/7.jpg)
ORPHANETORPHANETV4V4
![Page 8: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/8.jpg)
Several ways to search diagnostic tests and clinical laboratories
Link to EuroGentest
3 tabs
![Page 9: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/9.jpg)
‘‘Rare diseases’ tabRare diseases’ tab
![Page 10: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/10.jpg)
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 diseasesOrpha 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 requestSuitable to code clinical activity / lab activity
Indexation with ICD10 codes: 2,074 diseasesIndexation with MIM codes: 4,381 diseases
![Page 11: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/11.jpg)
Encyclopaedia in 5 langagesEncyclopaedia in 5 langages
Detailed abstracts:English: 2,553 summary informationFrench: 2,480 summary informationGerman: 2,071 summary informationItalian: 2,248 summary informationSpanish: 932 summary information
Review articles :466 review articles in English335 review articles in French
Clinical signs
![Page 12: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/12.jpg)
Classifications of diseases
![Page 13: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/13.jpg)
Simple search: by gene name or symbol
1,990 genes linked to 1,780 diseases
![Page 14: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/14.jpg)
From diseases to healthcare resources
![Page 15: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/15.jpg)
‘‘Diagnostic tests’ tabDiagnostic tests’ tab
![Page 16: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/16.jpg)
…
![Page 17: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/17.jpg)
Search options:Search options:Disease
CityLaboratory
Professionnal
Quality management data:Quality management data:Licensing
CertificationAccreditation
External Quality Assessment
![Page 18: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/18.jpg)
Simple search : by disease or gene name
Links to :Gene and disease information
EuroGentest
![Page 19: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/19.jpg)
Simple search : by disease or gene name
Detailed information on a clinical laboratory
![Page 20: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/20.jpg)
Details on quality
management of diagnostic tests
![Page 21: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/21.jpg)
Sorting options
Laboratories involved in quality management initiatives Location
![Page 22: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/22.jpg)
Other search options: by disease and city
![Page 23: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/23.jpg)
Other search options: by professional
![Page 24: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/24.jpg)
Other search options: by laboratory
By EUGT numberBy name
![Page 25: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/25.jpg)
Link to EuroGentest website
![Page 26: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/26.jpg)
‘‘Directory of resources’ tabDirectory of resources’ tab
![Page 27: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/27.jpg)
Search for a professional
Detailed information on laboratory and activities
![Page 28: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/28.jpg)
Search for a clinical laboratory
Detailed information on activities and quality management data
![Page 29: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/29.jpg)
Registration of diagnostic activities
Three ways to access to
registration forms
![Page 30: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/30.jpg)
A common form for EuroGentest and Orphanet
![Page 31: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/31.jpg)
Update processesUpdate processes
![Page 32: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/32.jpg)
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
![Page 33: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/33.jpg)
Update forms
One form for each registered address,
containing the list of corresponding activities
Details on each activity to be modified (or not)
below
![Page 34: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/34.jpg)
Administration interface
For the Orphanet information scientist who will manage changes in the database
![Page 35: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/35.jpg)
3 errors in typing
Click on the button to start the updating processUPDATE 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
Two possibilities
![Page 36: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/36.jpg)
Nomenclature and classifications
A service unique in the world
Since October 2008
![Page 37: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/37.jpg)
ClassificationsClassifications
Clinical signs (Orphanet Controlled
Vocabulary)
Clinical signs (Orphanet Controlled
Vocabulary)
GenesGenes
PubMed queryPubMed query MeSH descriptorsMeSH descriptors
OMIM numberOMIM number
ICD-10ICD-10
Mode of inheritance
Mode of inheritance
Epidemiological Data:
PrevalenceAge of onsetAge of death
Epidemiological Data:
PrevalenceAge of onsetAge of death
RareDiseaseORPHAnumber
RareDiseaseORPHAnumber
![Page 38: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/38.jpg)
![Page 39: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/39.jpg)
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
![Page 40: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/40.jpg)
![Page 41: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/41.jpg)
![Page 42: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/42.jpg)
![Page 43: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/43.jpg)
![Page 44: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/44.jpg)
Action Plan for 2009
Add new laboratories ? Add new countries Update information Communicate on all the new services Disseminate the Orpha nomenclature
![Page 45: Leuven 2008, November 20 th & 21 st EuroGenTest Unit 2 Activity report Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON European Efforts on Information](https://reader035.vdocument.in/reader035/viewer/2022081602/5516138155034694308b5425/html5/thumbnails/45.jpg)
Register your activity !Enjoy the database !