Welcome
The ESHG recently approved a new Genetic Services Quality Committee whose aim is to improve the quality and provision of genetic services in Europe for the benefit of users. The first meeting was held in June at the ESHG conference in Barcelona. This initial meeting focussed on defining the scope and identifying perceived areas of need within the genetic community. The Quality Committee has supported the initiative by NISBC to have the Fragile X reference materials adopted by WHO. The next Quality Committee meeting will be held in December.
New web pages
Our web masters have redesigned several of our web pages and upgraded many of its functions to provide you with a better platform for genetic testing.
During the course of the EuroGentest project we discovered that there is so much content about the subject of genetic testing, that the EuroGentest website has had to be redesigned several times with this latest version as the result.
The current content has been redistributed across 5 target groups: medical professionals, laboratories, students, patients & family and the industry. This is to make sure everyone can find his or her content as fast as possible. Every target group has a homepage which groups together the most relevant and interesting documents, tools and web pages for that particular group.
All presentations, publications, reports and other documents have been put into a document repository. This is a database of all the documents which can be searched by using a new search engine tool, created on several of the new web pages.
EUGT General Assembly
General Assembly for all participants & collaborators on Thursday 20/11 and Friday 21/11.
Upcoming news - more in next issue
- Gender and Genetics
- South America
- AGM
- Education workshop
Next quality workshop
Validation of diagnostic tests: 8-9 January 2009, Prague, Czech Republic. Registration forms, contents and more detailed information is available on the EUGT website. More here
Are you using array CGH in your diagnostic work?
EuroGentest is looking at the different reference DNAs currently in use for array CGH, with a view to producing an ideal reference sample or pool of samples for diagnostic use. If you currently use a CGH (or other genome-wide copy number variation methodology), please complete the short survey at
http://www.eurogentest.org/survey/aCGH/new.xhtml - we estimate it should take you less than 5 minutes to complete the 10 short questions!
Orphanet integration continues
The latest stats from Orphanet are fairly impressive. Its directory of 5,857 rare diseases is not only used by health professionals, but also increasingly by patients, families and researchers who all together consult over 20,000 pages every day. Through our partnership, EuroGentest has helped add new functions to the website, targeted particularly at biologists and researchers. By enhancing information on genes associated with rare diseases, Orphanet now offers the possibility to query by gene when searching for a clinical laboratory to perform a specific test and to find information on research activities linked to specific genes. By cross-referencing a gene with each rare disease to which it is associated, Orphanet provides a search option that allows users to easily capture all genes linked to a particular disease or all diseases linked to a particular gene. To access this service, click on the “rare diseases” tab on the front page, followed by the “gene” sub-tab that appears. Orphanet has also integrated the other leading scientific databases for genetics to facilitate smooth navigation between them. It is thus now possible to access additional information on a particular gene via OMIM, Genatlas, HGNC and Swissprot – all from Orphanet’s gene page.
Alamut is a decision-support software application developed by Interactive Biosoftware for mutation diagnostics in medical molecular genetics is the subject of the latest technology evaluation by EuroGentest. Over 400 variants from 14 genes were tested and Alamut was found to provide accurate and high quality nomenclature, often better than manually generated nomenclature. The only problems found were in the protein- level nomenclature for a few complex variants, and with some cases of the interpretation of data from external data sources. Genomic and HGVS coordinates of genes were found to be in complete agreement with other data sources.
EMQN in conjunction with EuroGentest are issuing an open call for topics for best practice meetings to be held in 2009. This call is subject to available funding. The aim of these meetings will be to draft new best practice guidelines or update existing ones for molecular genetics testing.
Expressions of interests for a disease or technique specific best practice meetings should be submitted to Outi Kämäräinen (outi.kamarainen@CMMC.nhs.uk) by 31st of October 2008.
Topics for the meetings from the expression of interest will be chosen by the EMQN management group based on the availability of up to date guidelines and funding.
In 2008, following two years of successful constitutional EQA pilots with limited participation, registration was open to all laboratories following publicity on the Eurogentest website and ECA Newsletter. CEQA offered two full Constitutional EQAs (Amniotic Fluid and Bloods) in addition to two pilot EQA in Haemato-Oncology pilot (AML, ALL) and Preimplantation Diagnosis. As a consequence of this open registration, enrolment increased to 126 laboratories from 28 countries. Despite the introduction of charges this year for the EQAs, participation in 2008 almost tripled compared to participation in 2007. CEQA registration covers most of Europe with the Netherlands, Italy and Spain being strongly represented.
Over the next year CEQA will endeavour to extend its network of National Representatives and to recruit laboratories from all outstanding European Countries.
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Meeting Report: EuroGentest workshop on Reference Materials (RMs) for new genetic testing technologies
The Institute for Reference Materials and Measurements (IRMM) of the Joint Research Centre of the European Commission hosted the workshop on 24th April 2008 in Geel, Belgium, as a deliverable of the WP1.6 of Unit 1 of the Network of Excellence. Read -
Meeting Report: 2nd International Symposium on RMs for Genetic Testing
Draft Proceedings of 2nd International Symposium on RMs for Genetic Testing Venue: Dublin 15-16/05/2007. Read -
Meeting report: Summary of Workshop on Prioritisation and Genetic Testing
Documentation of Eurogentest Unit 3 workshop on prioritisation in genetic testing in Lund is now available Available for registered users -
Clinical utility gene card have been updated
More -
Have patients’ opinions been asked?
A review of 102 studies from the years 1997– 2007 on patient perspectives of genetic counselling services in genetic testing situations. Read
Harmonizing genetic testing across Europe