Author:

Keywords:

0604 Genetics, 1103 Clinical Sciences, Genetics & Heredity

Abstract:

Testing for genetic diseases has moved progressively from a predominantly research context into specialized clinical genetic laboratories. Concomitantly, there has been a greatly-increased attention to issues of quality control (QC) and assurance (QAu), particularly with respect to EQA and accreditation. Genetic counselling, education, genetic services, and public policy 380 Existing initiatives collecting information on or providing support for QAu in genetic testing services are fragmented, and their continuity is not assured. The EU Network of Excellence EuroGentest is bringing together many initiatives to develop the necessary infrastructure, tools and resources to improve and harmonize the overall quality of genetic services throughout Europe. Although a number of public websites provide lists of genetic testing laboratories and tests that are available, public information about QAu is sparse or absent. As a first step, we surveyed the current status of accreditation, certification and participation in EQA in European laboratories. The survey was distributed to more then 2000 contacts in 35 countries. To ensure the highest possible quality of the data, the collected information will be peer-reviewed prior to dissemination to laboratories and consumers via a European QAu database. The results will be presented.With the new awareness of the central role of QAu, making this information available will benefit consumers, by facilitating informed choice of laboratory partners for performing tests, and genetics services, by facilitating selection of partners for referral of tests which cannot be performed locally and by valorizing their efforts and investment in QAu. This survey will provide the first overview of the status of QAu in European genetics laboratories.