Leuven

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EuroGenTest Unit 2Activity report
European Efforts on Information Databases for
Genetic Diseases and Testing Services
Dr Ségolène AYME, Mariana JOVANOVIC Ioana CARON
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Interoperability between Unit 1 and Unit 2
Previous work flow
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Interoperability between Unit 1 and Unit 2
Current work flow
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Evolution of diagnostic data in Orphanet From
2001 to present
1,288 clinical laboratories

• - 69 with accreditation
• 199 EQA-participating
• 50 with certification

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17,178 diagnostic tests registered within Orphanet
Number of registered diagnostic tests per country
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7,316 diseases described within Orphanet
Number of diseases screened in each country
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ORPHANET V4
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Several ways to search diagnostic tests and
clinical laboratories
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Rare diseases tab
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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
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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
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Classifications of diseases
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Simple search by gene name or symbol
1,990 genes linked to 1,780 diseases
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From diseases to healthcare resources
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Diagnostic tests tab
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Search options Disease City Laboratory Profession
nal
Quality management data Licensing Certification A
ccreditation External Quality Assessment
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Simple search by disease or gene name
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Simple search by disease or gene name
Detailed information on a clinical laboratory
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Details on quality management of diagnostic tests
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Sorting options
Laboratories involved in quality management
initiatives
Location
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Other search options by disease and city
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Other search options by professional
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Other search options by laboratory
By EUGT number
By name
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Link to EuroGentest website
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Directory of resources tab
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Search for a professional
Detailed information on laboratory and activities
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Search for a clinical laboratory
Detailed information on activities and quality
management data
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Registration of diagnostic activities
Three ways to access to registration forms
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A common form for EuroGentest and Orphanet
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Update processes
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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
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Update forms
One form for each registered address, containing
the list of corresponding activities
Details on each activity to be modified (or not)
below
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Administration interface
For the Orphanet information scientist who will
manage changes in the database
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Occasional updating process launched by the
professional
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Nomenclature and classifications

• A service unique in the world
• Since October 2008

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Orpha nomenclature

• Comprehensive list of rare diseases (lt5,850)
• 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

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Action Plan for 2009

• Add new laboratories
• ? Add new countries
• Update information
• Communicate on all the new services
• Disseminate the Orpha nomenclature

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Register your activity !Enjoy the database !