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Good news: a grant proposal to continue EuroGentest has been favourably evaluated by the European Commission

In 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 call was for a Coordination Action, and hence, the budget was limited to 2.000.000 EUR for a period of 36 months.

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 !


Gert Matthijs, Jean-Jacques Cassiman


EuroGentest @ ESHG 2010

Visit our joint stand with Orphanet and ESHG at the ESHG 2010.

AT THE BOOTH (stand number B120):

  • EuroGentest2.
  • Instrument for quality self assessment in provision of genetic counselling. More.
  • Clinical utility gene cards. More.

CONCURRENT SYMPOSIA

Sunday, June 13

  • 08.45 - 10.15: S01. Mosaicism OR Somatic Genome Variation. The cleavage stage embryo is the cradle of chromosomal rearrangements
    J. Vermeesch, Leuven, Belgium

CONCURRENT SESSIONS

Monday, June 14

  • 13.15 - 14.45 C11/E C5A. Genetic Research, Biobanking and Public Policy (joint session with EMPAG). (Room F6)
    • C11.1 Policy Recommendations of the PPPC on direct-to-consumer genetic testing for health purposes.
      P. Borry, C. Patch, M. Cornel; on behalf of the PPPC)

Tuesday, June 15

  • 10.45 - 12.15: C14 Mutation mechanism.
    (Room F4+F5)
    • C14.1 Dysostin, a new gene involved in CDG and affecting pH homeostasis.
      F. Foulquier, J. Jaeken, M. Amyere, R. Zeevaert, L. Keldermans, M. Vikkula, E. Van Schaftingen, G. Matthijs

WORKSHOPS

Sunday, June 13

  • 15.00 - 16.30: WS2. Quality control. More.
    E. Dequeker and M. Morris

Monday, June 14

  • 15.00 - 16.30: WS10. Legal regulation for genetic testing.
    M. Macek, Jr.
  • 15.00 - 16.30: WS12. Molecular Cytogenetics.
    J. Vermeesch, J. Veltman

SATELLITE MEETINGS

Friday, June 11 - Saturday, June 12

  • Basic Workshop - Validation of diagnostic tests in clinical molecular genetics. More.
    E. Dequeker Hotel Scandic Opalen, Gothenburg

Sunday June 13

  • 10:15 - 12.30: Innovative Techniques in Genome Diagnostics. HALL: G1 + G2 More
    B. Bakker, N. van der Stoep

ROUND TABLE SESSIONS

  • 10.15 - 12.15: Case studies on quality assurance and quality control issues in genetic testing laboratories. More
    E. Dequeker
More...

Book release: Quality Issues in Clinical Genetic Services

This 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.)
1st Edition., 2010, 400 p., Hardcover
ISBN: 978-90-481-3918-7

About this book

Initially 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.

More...

Instrument for quality self- assessment in provision of genetic counselling

We 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.

More...

EuroGentest
Harmonizing genetic testing across Europe
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