You can find the newsletter online here: http://www.eurogentest.org/web/newsletter/data/may_2010.xhtml
![]() Good news: a grant proposal to continue EuroGentest has been favourably evaluated by the European CommissionIn November 2009, we filed an application for a project that would allow us to continue the activities of EuroGentest, or to at least maintain the network. Indeed, we believe that EuroGentest has delivered a lot in terms of supporting laboratories and genetic clinics towards improvement of quality in genetic testing, and that within the 5 years of its existence, it has created a momentum that should not be stopped. Some people call EuroGentest a brand or trademark, it seems as if it has always been there and it should certainly not disappear. The new project was named EuroGentest2 (or EUGT2) - because we were obliged to give it a new name and acronym. But the brand name will always be EuroGentest. The topic in the Seventh Framework call of the European Commission, to which the project was submitted, was tailored to our needs: "Harmonization, validation and standardisation in genetic testing" (HEALTH 2010.1.2-3).
Our application received an excellent score: 14/15, not bad. By the end of March 2010, we received notice that
we could proceed with the contract preparations.
The focus will still be on quality assurance of genetic practice, including different types of training, and the realm will also include prenatal diagnosis (PD), pre-implantation diagnosis (PGD) and non-invasive prenatal diagnosis (NIPD). Points of interest will be: External Quality Assessment (EQA) and the harmonization thereof, the validation of novel technologies and mainly the coordination thereof, and the generation of ‘Clinical Utility Gene Cards', which is a major endeavour indeed. Attention will be paid to Direct-to-Consumer (DTC) testing - a feature which was very much appreciated by the reviewers - and to the recast of the In Vitro Diagnostic (IVD) Directive. In general, EuroGentest wants to actively participate in different types of workgroups, and, in close collaboration with the European Society of Human Genetics (ESHG), weigh on international decisions with regard to genetic testing. A specific, new workpackage will coordinate all policy activities. The plan to create a EuroGentest foundation, which should warrant the sustainability of the network after the granting period, was applauded by reviewers, and we hope that it will be welcomed by the genetics community as well. It is not going to be another professional body, but rather a network or association of genetic centres - laboratories as well as clinics, the users of EuroGentest ‘products'. We will present EuroGentest2 at the ESHG meeting in June , at the booth, to spread the news. Also, we plan to organize a meeting well before the start, i.e. sometime in the fall. We aim for January 1st 2011 for the project to formally start. Please realize that 2 million EUR is not a lot for an ambitious plan and in view of the large scope of EuroGentest. We will have to make difficult choices about where to invest efforts and money first. The transition for Network of Excellence to Coordination Action, and the concomitant reduction of the budget, also forced us to give in on aspects of education, ethical and legal studies, and on research per se. But the main objectives of EuroGentest will continue to get full attention and support. The Steering Committee and an Advisory Board will help and guide us in this respect. To nevertheless encompass the largest possible scope, EuroGentest will closely collaborate with other European-funded projects and networks. For instance, we consider to append the scientific meeting of EUROGENTEST back-to-back to the scientific meeting of TECHGENE (‘Technological innovation of high throughput molecular diagnostics of clinically and molecularly heterogeneous genetic disorders', see www.techgene.org ). We will also link to the READNA project (‘REvolutionary Approaches and Devices for Nucleic Acid analysis' , www.cng.fr/READNA ). The combination of these 3 projects covers all aspects from technology development to diagnostic implementation and validation to quality assurance. Other projects in which members of EuroGentest are involved are e.g. GEN2PHEN (to unify genetic variation databases, www.gen2phen.org ) and NMD CHIP (designing DNA arrays to efficiently diagnose patients affected with neuromuscular diseases, www.nmd-chip.eu ).Hence, EuroGentest might very well become the instrument that coordinates much of what is important for genetic services. This is effectively our aim. We count on your continued support to make it work !
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EuroGentest @ ESHG 2010
Visit our joint stand with Orphanet and ESHG at the ESHG 2010. AT THE BOOTH (stand number B120):
CONCURRENT SYMPOSIA Sunday, June 13
CONCURRENT SESSIONS Monday, June 14
Tuesday, June 15
WORKSHOPS Sunday, June 13
Monday, June 14
SATELLITE MEETINGS Friday, June 11 - Saturday, June 12
Sunday June 13
ROUND TABLE SESSIONS
Book release: Quality Issues in Clinical Genetic ServicesThis book was released in February 2010 and was a collaborate effort with several articles written by EuroGentest participants. We are proud to announce this book is now for sale.
Authors: Kristoffersson, Ulf; Schmidtke, Jörg; Cassiman, J. J. (Eds.) About this bookInitially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare.Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined, to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders. Instrument for quality self- assessment in provision of genetic counsellingWe invite all genetics clinics in Europe and elsewhere to use this instrument for self assessment of their work. Our recommendation is that the clinic staff does the evaluation together, documents the outcome and repeats the exercise for instance once a year to monitor the progress. Newly-established clinics may find the standards helpful also in estimating the need for resources. Try the tool online now. |
EuroGentest Satellite meeting: Innovative Techniques in Genome Diagnostics
EuroGentest invites you to attend our meeting on new and emerging techniques in diagnostics.
CEQA (Cytogenetic European Quality Assessment) is now in its fourth year of operation and currently offers seven EQAs to 224 registered laboratories from 38 countries.
All EQAs are online (except for the Microarray/ArrayCGH EQA where DNA samples are distributed) and submission of results can be made in 11 European languages. Submissions are assessed by a panel of European EQA providers and expert assessors against the European Cytogenetic Guidelines and ISCN 2009. The Microarray/ArrayCGH EQA is carried out in collaboration with The European Molecular Genetics Quality Network (EMQN), the European Scheme for Molecular Genetics. The PGD EQAs are carried out in collaboration with the European Society of Human Reproduction and Embryology (ESHRE). CEQA is overseen by a Steering Committee and reports regularly to the ESHG Quality Committee. CEQA Participants are reminded that the annual Participants’ Meeting for 2010 will be held on Sunday, 13th June during the ESHG conference in Gothenburg. If you are not a registered participant, please go to www.ceqa-cyto.eu to register or see the timetable and more information about the Scheme. You can also contact Ros Hastings (Scheme Co-ordinator) or Bettina Quellhorst-Pawley (Quality Manager) by email:
Workshops on accreditation in genetic testing laboratories
Basic workshop on validation of diagnostic tests in clinical molecular genetics Göteborg, Sweden, 11-12 June 2010 Genetic tests must be validated before diagnostic use to ensure that they perform according to the laboratory's requirements, and test validation is a formal requirement of many accreditation standards including ISO 15189. In this workshop, we will examine the validation requirements of ISO 15189 and address practical ways of meeting them in your laboratory. Basic workshop on Accreditation for beginners, how to implement ISO 15189 Ljubljana, Slovenia, 8-9 October 2010 Compare and share experiences of implementing and working with quality systems. Examine cases of concrete situations related to quality processes like non-conformities, reporting and training. Atelier - Comment mesurer et améliorer la qualité? La revue de direction et les contrôles de qualité interne et externe. Vous souhaitez comprendre ce qu'est une revue de direction, mettre en place des contrôles internes de qualité ou participer à des évaluations externes de la qualité ? Cet atelier est destiné aux laboratoires de génétique moléculaire et de cytogénétique, déjà accrédités ou non accrédités, souhaitant assimiler ce qu'est une revue de direction, un contrôle de qualité interne et une évaluation externe de la qualité.
EuroGentest - Orphanet Information Scientist Training 8‐9th March 2010
Orphanet and EuroGentest organised a two-day training session for information scientists in a sunny, but still chilly, Paris on 8th-9th March 2010. More than 30 information scientists from across Europe participated in the sessions. The first part of the first day was dedicated to quality assurance data. The second day of the training was dedicated to the discussion of your day-to-day workflow for each type of expert data.
As a result draft SOPs were created for data collection and processing.
ERNDIM News Spring 2010
This is an exciting and active period for ERNDIM stimulated by the EUGT project.
Latest Publications
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EuroGentest
Harmonizing genetic testing across Europe |
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