18 May 2005
The World Health Organization (WHO) has announced approval of the first international standard for a human genetic test. An International Reference Panel has been established for genetic testing for Factor V Leiden, a common genetic risk factor for venous thrombosis; tests for the presence or absence of the Factor V Leiden mutation are one of the most frequently performed in clinical laboratories. The new standard, agreed at the 55th session of the WHO Expert Committee on Biological Standardization (WHO ECBS), is intended to improve accuracy and quality of laboratory testing for Factor V Leiden throughout the world. Dr David Wood, Coordinator of Quality Assurance and Safety of Biologicals at the WHO commented: "Establishment of the first international standard for a genetic test is an important milestone. Genetic testing procedures are playing a vital and growing part in clinical medicine. This new standard will help to ensure that the tests are giving accurate results worldwide" (see press release).
The Factor V Leiden reference panel was developed by the UK National Institute for Biological Standards and Control (NIBSC), in partnership with the clinical National Quality Assessment scheme for Blood Coagulation and the Royal Hallamshire Hospital in Sheffield. Assessment of the standard for the Factor V Leiden genetic test was carried out by an international panel of investigators in conjunction with the International Society on Thrombosis and Hemostasis (ISTH). Establishing international standards for genetic testing is considered to be of increasing importance as the practice expands; it is estimated that millions of genetic tests are performed world-wide each year. The WHO ECBS plans to establish standards for other genetic tests in the future.