Aymé, Ségolène

Cassiman, Jean-Jacques

Dequeker, Els

Desmet, Lieve

Jovanovic, Mariana

Morris, Michael

Orphanet Journal of Rare Diseases

English

PubMed

Mariana Jovanovic

Els Dequeker

Lieve Desmet

Michael Morris

Jean-Jacques Cassiman

Ségolène Aymé

Springer - Publisher Connector

POSTER PRESENTATION Open Access
Genetic testing in Europe: transborder testing is a
necessity
Mariana Jovanovic1*, Els Dequeker2, Lieve Desmet2, Michael Morris3, Jean-Jacques Cassiman2, Ségolène Aymé1
From 5th European Conference on Rare Diseases (ECRD 2010)
Krakow, Poland. 13-15 May 2010
Genetic tests are now offered internationally, through
both public and private sector genetic testing services.
Physicians prescribing these tests and biologists receiv-
ing the samples need to know which tests are available,
where they are performed and whether the identified
laboratories meet quality standards. To fulfil this need,
http://www.orpha.net was launched thirteen years ago to
set up a database of clinical laboratories in the field of
rare diseases. Data was collected in 1 country in 1997,
15 in 2003, 26 in 2006 and 38 in 2010. This major effort
was made possible thanks to resources from the EC DG
for Public Health. In collaboration with the EuroGentest
Network of Excellence, information on quality manage-
ment has been added to the Orphanet database over the
past four years. To obtain information on genetic testing
in Orphanet, it is possible to search by disease name or
by gene (symbol or name in English) in addition to the
traditional search by name of laboratory or professional.
The information provided on laboratories includes data
on quality management. Currently, 956 laboratories
offering tests for 1,559 genes are registered in the
Orphanet database. The test offer differs greatly from
one large country to another: Germany (1,141 genes),
France (874 genes), Italy (625 genes), Spain (582 genes),
UK (414 genes). Medium and small-sized countries have
a test offer ranging from 1 to 233 genes. This situation
explains the large cross-border flow of specimens and
underlines the need to provide access to services in
other countries when necessary, especially for very rare
diseases. Testing for Cystic fibrosis is the only service
which is provided by every country. The distribution of
this test offer will be presented.
Author details
1Orphanet, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.
2Eurogentest, University of Leuven, Centre for Human Genetics, Herestraat
49, Box 602, 3000 Leuven, Belgium. 3Laboratoire de Diagnostic Molculaire,
Service de Génétique Médicale, CMU Rue Michel Servet 1, 1211 Genève,
Switzerland.
Published: 19 October 2010
doi:10.1186/1750-1172-5-S1-P4
Cite this article as: Jovanovic et al.: Genetic testing in Europe:
transborder testing is a necessity. Orphanet Journal of Rare Diseases 2010
5(Suppl 1):P4.
Submit your next manuscript to BioMed Central
and take full advantage of: 
• Convenient online submission
• Thorough peer review
• No space constraints or color figure charges
• Immediate publication on acceptance
• Inclusion in PubMed, CAS, Scopus and Google Scholar
• Research which is freely available for redistribution
Submit your manuscript at 
www.biomedcentral.com/submit
*Correspondence: mariana.jovanovic@inserm.fr
1Orphanet, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France
Full list of author information is available at the end of the article
Jovanovic et al. Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P4
http://www.ojrd.com/content/5/S1/P4
© 2010 Jovanovic et al; licensee BioMed Central Ltd.


Genetic testing in Europe: transborder testing is a necessity

Crossref

POSTER PRESENTATION Open AccessGenetic testing in Europe: transborder testing is anecessityMariana Jovanovic1*, Els Dequeker2, Lieve Desmet2, Michael Morris3, Jean-Jacques Cassiman2, Ségolène Aymé1From 5th European Conference on Rare Diseases (ECRD 2010)Krakow, Poland. 13-15 May 2010Genetic tests are now offered internationally, throughboth public and private sector genetic testing services.Physicians prescribing these tests and biologists receiv-ing the samples need to know which tests are available,where they are performed and whether the identifiedlaboratories meet quality standards. To fulfil this need,http://www.orpha.net was launched thirteen years ago toset up a database of clinical laboratories in the field ofrare diseases. Data was collected in 1 country in 1997,15 in 2003, 26 in 2006 and 38 in 2010. This major effortwas made possible thanks to resources from the EC DGfor Public Health. In collaboration with the EuroGentestNetwork of Excellence, information on quality manage-ment has been added to the Orphanet database over thepast four years. To obtain information on genetic testingin Orphanet, it is possible to search by disease name orby gene (symbol or name in English) in addition to thetraditional search by name of laboratory or professional.The information provided on laboratories includes dataon quality management. Currently, 956 laboratoriesoffering tests for 1,559 genes are registered in theOrphanet database. The test offer differs greatly fromone large country to another: Germany (1,141 genes),France (874 genes), Italy (625 genes), Spain (582 genes),UK (414 genes). Medium and small-sized countries havea test offer ranging from 1 to 233 genes. This situationexplains the large cross-border flow of specimens andunderlines the need to provide access to services inother countries when necessary, especially for very rarediseases. Testing for Cystic fibrosis is the only servicewhich is provided by every country. The distribution ofthis test offer will be presented.Author details1Orphanet, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.2Eurogentest, University of Leuven, Centre for Human Genetics, Herestraat49, Box 602, 3000 Leuven, Belgium. 3Laboratoire de Diagnostic Molculaire,Service de Génétique Médicale, CMU Rue Michel Servet 1, 1211 Genève,Switzerland.Published: 19 October 2010doi:10.1186/1750-1172-5-S1-P4Cite this article as: Jovanovic et al.: Genetic testing in Europe:transborder testing is a necessity. Orphanet Journal of Rare Diseases 20105(Suppl 1):P4.Submit your next manuscript to BioMed Centraland take full advantage of: • Convenient online submission• Thorough peer review• No space constraints or color figure charges• Immediate publication on acceptance• Inclusion in PubMed, CAS, Scopus and Google Scholar• Research which is freely available for redistributionSubmit your manuscript at www.biomedcentral.com/submit*Correspondence: mariana.jovanovic@inserm.fr1Orphanet, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, FranceFull list of author information is available at the end of the articleJovanovic et al. Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P4http://www.ojrd.com/content/5/S1/P4© 2010 Jovanovic et al; licensee BioMed Central Ltd.

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Genetic testing in Europe: transborder testing is a necessity

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