EU patients can check genetic tests laboratories credentials on-line
Going for a genetic test is not a decision that is taken lightly and may open up ethical and psychological challenges. Individuals usually wish to be tested if there is a family history of a specific disease or if they show symptoms of a genetic disorder. Prospective parents concerned about passing on genetic problems to the children also want to be tested.
Now, for the first time, patients and families in the EU can check out the quality status of genetic testing labs on line. This is important since due to the rarity of certain conditions, tests are often performed in distant locations, even different countries. This on-line database is a main feature of the new version of Orpha.net, the leading free portal for rare disease information and was created by EuroGentest, an EU-funded Network of Excellence (NoE).
Over the last two years, EuroGentest, has collated in-depth data on the majority of the 1500 + laboratories involved in Member and associated EU States. Its goal is to improve and harmonise standards for laboratory genetic testing services in Europe. EuroGentest has five Units looking at all aspects of genetic testing - Quality Management, Information Databases, Public Health, New Technologies and Education. Through a series of initiatives, it encourages the harmonization of standards and practice in all these areas throughout the EU and beyond.
As patients' understanding of the results and consequences of the test is an integral part of genetic testing, EuroGentest also aims to improve the quality of genetic counselling services associated with genetic testing, across Europe. One of the goals is to establish recommendations for genetic counselling in connection with different testing situations.
EuroGentest coordinator Professor Jean-Jacques Cassiman commented; '1 in 17 of us will suffer from a genetic disease. As genetic testing increases across the EU, it is essential that patients and their families have utmost confidence in the laboratories performing tests. Since many of the diseases are extremely rare, specialist testing laboratories are often not local and may even be in different countries. Therefore an on-line search tool will, we believe, be a major advance. We are delighted to collaborate with Orpha.net which has rapidly established itself as a trusted and comprehensive source of information throughout Europe.'
A resource for scientists and families
Alastair Kent, Director of leading patient interest group GIG, welcomed the launch: '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 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.'
Until now, there has been no simple or reliable way to identify, for a particular diagnostic test, a laboratory with a quality system, nor conversely to determine for a given laboratory what is included in its Quality Assurance system. The database will become an essential resource for geneticists and other health care professionals worldwide, as well as for patients and families. The search tool lists tests performed laboratory accreditation status, membership of External Quality Assessment schemes, staff qualifications and research interests. It will be updated on an on-going basis.
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