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

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

Orphanet EuroGentest

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 - 199 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

ORPHANETORPHANETV4V4

Several ways to search diagnostic tests and clinical laboratories

Link to EuroGentest

3 tabs

‘‘Rare diseases’ tabRare 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 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

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

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’ tabDiagnostic tests’ tab

…

Search options:Search options:Disease

CityLaboratory

Professionnal

Quality management data:Quality management data:Licensing

CertificationAccreditation

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’ tabDirectory 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 processesUpdate 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 e-mail 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 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

Nomenclature and classifications

A service unique in the world

Since October 2008

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

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 !