EuroGentest already helping patients across Europe
Patients across the EU and associated states suffering from genetic conditions are already benefitting from work conducted within the framework of the EU-funded EuroGentest network of excellence (NoE), according to the network's coordinator and president elect of the European Society of Human Genetics (ESHG), Professor Jean-Jacques Cassiman. His comments were made during this year's European Human Genetics Conference, which ended on 3 June in Barcelona. 'One in 17 of us will suffer from a genetic disease,' Professor Cassiman pointed out. '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.' One of these achievements, according to Professor Cassiman, is the launch of a database in collaboration with Orpha.net a partly EU-funded online portal for rare diseases and orphan drugs. The database contains information on laboratories that offer genetic testing, so that patients and their families can check the laboratories' credentials before entrusting them with a particular test. '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,' Professor Cassiman explained. '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.' The director of the UK-based Genetic Interest Group (GIG), Alastair Kent, agrees that giving patients and their families access to information about laboratories is key: 'Knowing that a lab is listed on a trusted site such as Orpha.net 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,' said Professor Cassiman, attributing large parts of EuroGentest's success to its organisation as a NoE. 'Behind the scenes, our members have worked tirelessly and made major progress in encouraging and helping laboratories to adopt recognised quality management and accreditation schemes, as well as developing EQA [European quality assurance] schemes. [...] We have produced guidelines for counselling, surveys on patient rights and recommendations on patenting. All of this on a minimal and strictly audited budget.' The EuroGentest NoE was established at the beginning of 2005 by 32 partners under coordination of the Center for Human Genetics at the Catholic University Leuven in Belgium. With €10 million support from the EU's Sixth Framework Programme (FP6), it is set to run until the end of 2009, aiming primarily to improve and facilitate the genetic testing being done in laboratories across Europe. According to EuroGentest, there are 1,500 centres in Europe that conduct genetic tests for about 1,000 different genetic conditions. The field is experiencing considerable growth in testing of 100 to 300% a year. About 30 million people in Europe suffer from genetic diseases, creating a cost to the EU health sector of approximately €500 million.