The first international standard for a human genetic test was approved by the World Health Organisation (WHO) Expert Committee on Biological Standardisation (ECSB) on November 17 2004.
The test, one of the most frequently carried out, is for Factor V Leiden, a particular genetic mutation creating a predisposition to thrombosis - a potentially life threatening blood disorder.
The standard provides reference material enabling all laboratories worldwide to carry out the test consistently and to a high standard providing confidence in the results. The standard was developed by the National Institute for Biological Standards and Control (NIBSC) in the United Kingdom in collaboration with partners. [1] As with all biological standards it was evaluated by 15 leading laboratories and the data was reviewed by the ECBS who decided to approve the standard.
It is estimated that in the EU some 700,000 genetic tests were performed in over 1500 laboratories and clinical centres in 2002.
DNA based genetic testing has the potential to improve the diagnosis and treatment of a number of diseases by providing doctors with extra information about their patients previously unknown. Researchers are studying the link between air travel and deep vein thrombosis, a condition that likely results from the Factor V mutation. Having information about their genetic make-up could allow travellers at risk to take precautions.
The approval of this genetic test standard follows a call by a high level expert group convened by the European Commission to ensure that genetic testing is used responsibly. The expert group of academics, industry and civil society representatives addressed issues of standards and quality as well as social, ethical and legal implications of genetic tests at a conference in Brussels on 6-7 May 2004. Related EPHA articles
