Databases
- DB - Health Organizations
- DB - Support Groups
- Educational Courses
- EUGT and Orphanet
- Orphanet
- Report: Quality assessment of bioinformatics tools for genetic testing services (html version)
- State of the Art
This page
- Survey on the state of the art of information databases and knowledge bases.
- The state of art is the following:
- Other National directories of labs involved in EQA shemes
- Other National directories of Human Genetics Societies
- Definition of the type of data to be collected to meet the needs of the partners
- Data collection in countries already covered by Orphanet (18)
State of the Art
Survey on the state of the art of information databases and knowledge bases.
Although several major databases and knowledge bases are already available and heavily used, there are still large segments of information missing to ensure optimal use of scientific data for clinical purpose. In addition there is no interoperability of these databases and no established collaboration leading to a decrease in efficiency for the users and a waste of resources. Finally quality standards have not been yet introduced in the field of genetic databases.
The state of art is the following:
ORPHANET
Orphanet is a database of rare diseases, which was designed to assist in diagnosing and treating rare diseases, as well as to further clinical research. It has been selected to serve as the central database of the EuroGenTest network.
The current version of is available in French, English, German, Italian, Portuguese and Spanish. It presently includes detailed information on 1,350 diseases. The entry headings on each disease give access to a directory of services (clinics, clinical laboratories, tests, on-going research projects, patients' organisations, and other international web sites).
The data are already collected in 7 European countries (Austria, Belgium, Germany, France, Italy, Spain, Switzerland). The data collection is in progress in 6 more countries (Denmark, Finland, Ireland, Portugal, Netherlands and United-Kingdom) and is starting in Cyprus, Czech Republic, Estonia, Greece, Hungary, Romania. In every country there is a dedicated information scientist in place. It currently includes 783 clinical laboratories and 1024 research laboratories. All the information is peer-reviewed.
The information about genetic testing does include the following items:
- Name and address of the laboratory
- Name of the professional responsible for the test
- Name of the Disease(s) covered by the test
- Type of technics: molecular genetic / biochemistry / cytogenetics
To meet EuroGenTest expectations, more data are needed (see next section).
CF Network
The Thematic Network on CF creates a unique platform for scientists involved in fundamental CF research, for the more than 160 genetic diagnostic laboratories, for CF associations of families, patients and clinicians, ethical, legal and IPR experts and representatives of the industry. This European Forum for cystic fibrosis, wherein all involved, interact, exchange and collaborate to achieve the same goals, including producing information resources on CF testing labs.The information is limited to one disease but very extensive. It will be necessary to find a way to harmonise this information with the one available on the Orphanet website.
EDDNAL
The European Directory of DNA diagnostic Laboratories (EDDNAL) is containing information on DNA-based diagnostic services for rare genetic conditions in Europe. As partnership has not been possible to establish between EuroGenTest and Eddnal, the information included in EDDNAL is now systematically extracted to be added to Orphanet when complementary and after re-validation and consent by the responsible professional.
EMQN
The European Molecular Genetics Quality Network (EMQN) has established a directory of labs belonging to such a network. It is therefore a subset of European laboratories which may be a complementary set of data for Orphanet. Transfer of data has to be set up within the network. To ensure maximum collaboration, the Orphanet UK data manager is located in the same team as the EMQN data manager in Manchester.
ERNDIM
ERNDIM is now synonymous with quality control of laboratory measurements within the field of the study of inborn errors of metabolism. ERNDIM was founded in 1994 with its legal base in Maastricht, The Netherlands. The full name of ERNDIM, the "European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism" reflects the original ideals and vision of its founders.
As EMQN they are maintaining a directory of biochemical laboratory participating to their quality control. Up to now they have 220 participants. The list is not accessible to the non-participants.
It is going to be necessary to establish a real partnership to compare their list with the one in Orphanet.
Other National directories of labs involved in EQA shemes
Three countries have national directories of labs belonging to an EQA sheme: Germany, Italy and UK. This information could be valuable for the corresponding Orphanet country partners. It is going to be collected by Unit 1 and will be transfered to Unit 2 subsequently.
Other National directories of Human Genetics Societies
Italy and Germany are maintaining a directory of the national laboratories. The information are published every year. They are a valuable tool for the Orphanet country partners.
Definition of the type of data to be collected to meet the needs of the partners
The Orphanet directory of genetic tests does not include all the data which are required to judge about the quality of the laboratory performing it. The additional pieces of information to be collected were discussed with Unit 1 partners. The decisions which have been taken following these meetings are the following:
The common objective of Unit 1 and Unit 2 is to obtain from all European Laboratories QA information as soon as possible for:
- Exploring the different systems in place (Unit 1)
- Check the reliability of the declarations versus the data from certification bodies (Unit 1)
- Make this information available on the Orphanet website attached to the current data on tests (Unit 2)
Tools to be developed are:
- An on-line questionnaire to fill in automatically an excel file
- New tables to be created in the Orphanet database to accommodate this new information
- New screens to enter the new data in the database
- New screens to query the Orphanet database
- Management tools for Unit 1 as to handle the data collected in the excel file for monitoring and validation purpose
Unsolved questions up to now:
- How to establish a collaboration with countries which have a national database of labs
- How to define Europe ? knowing that it is not wise to collect data we cannot validate, which are not comprehensive, and for which we do not have the resource to update the lists
Data collection in countries already covered by Orphanet (18)
Up to now there is no comprehensive directory of genetic laboratories in Europe. However Orphanet is the most comprehensive one up to now. It has been decided to build upon it to establish the EuroGenTest directory. In order to discuss how best to proceed, a workshop of the Orphanet country leaders and of the information scientists working in the 18 participating countries took place on 19 April 05 in Paris.
Last changed: 2008-09-11
