Foreword; Contents; Contributors; About the Authors; Improving Quality and Harmonization of Standards in Clinical Genetic Services in Europe: The EuroGentest Network of Excellence; The CanGneTest Pan-Canadian Research Consortium on Genetic Laboratory Services; Regulating Genetic Testing: The Relevance of Appropriate Definitions; Genetic Diseases as Rare Diseases: A European Policy View; European Regulatory Issues Related to Quality in Provision of Genetic Service; The European IVD Directive and Genetic Testing; Quality Issues in Genetics Services in the United Kingdom
Summary
Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 per cent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine w