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Genetic patients across Europe feeling real benefits claims EuroGentest NoE at ESHG

EuroGentest coordinator and president elect of the EHSG, Professor Jean-Jacques Cassiman is to use this year’s ESHG conference in Barcelona as a plarform to illustrate the achievements of the Network of Excellence (NoE) format.

Speaking on the eve of a conference which will see a record number of achievements presented by the EU-funded five-year project, Cassiman and his expert steering committee stressed their belief that genetic patients across the EU and associated states are already experiencing real and lasting benefits.

According to Professor Cassiman: “1 in 17 of us will suffer from a genetic disease. With the cost of diagnosis and treatment growing rapidly, genetic testing urgently needs to be harmonised across the EU. We in the genetics community – from geneticists to patient groups - realise this need and are united in the belief that Network of Excellence is the ideal vehicle to tackle the situation. Already through the unstinting efforts of our working parties and collaborators we have made major advances in our goal. Advances that are bringing immediate benefits to patients.

“For example we have just launched in conjunction with a database where patients and their families across Europe can now check out on-line the credentials of laboratories offering genetic tests. This is we believe essential since many of the diseases are extremely rare, specialist testing laboratories are often not local and may even be in different countries. In addition, Genetic testing often results in considerable stress to patients and their families and so we have also produced a series of freely available patient information leaflets. Covering the main genetic disorders and the issues involved, they have been in great demand and been translated into nearly all community languages.”

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This view is endorsed by Alastair Kent, Director of leading patient interest group GIG,: “Giving patients and families the opportunity to check out the credentials of labs providing genetic tests is hugely important. Knowing that a lab is listed on a trusted site such as gives confidence in the validity of the results of genetic tests, and means that families are able to make better, more informed decisions. Equally having access to high quality patient information in your own language is also essential.”

“These are, however, only outwardly visible examples. Behind the scenes, our members have worked tiredlessly and made major progress in encouraging and helping laboratories to adopt recognised quality management and accrediation schemes, as well as developing EQA schemes. Reference material needs have been determined and development projects initiated. We have produced guidelines for counselling, surveys on patient rights and recommendations on patenting. All of this on a minimal and strictly audited budget. Therefore I would challenge critics of the NoE format to attend our workshops and seminars at ESHG and see for themselves the value EuroGentest is delivering in a way no other vehicle could ever hope to achieve,” claims Cassiman.

Richard Hayhurst | alfa
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