Improving quality and harmonization of standards in clinical genetic services in Europe: The EuroGentest network of excellence

Abstract

The most important contributions of the EuroGentest NoE can be summarized as follows: • European diagnostic labs are moving towards accreditation under ISO 15189, hereby helped by training workshops in quality management and accreditation; integration and harmonization of the three EQA schemes in Europe and new Best practice guidelines for the labs. The Orphanet database has been overhauled and expanded. It now also provides information on the degree of quality assurance of many registered labs • Gene cards containing information on the clinical validity and utility of 32 different molecular tests are available. Different aspects of the clinical utility of genetic tests have been critically analyzed • A technology platform for the validation of emerging technologies is in place and generic SOPs for the validation of these technologies have been drafted • A context-dependent definition of genetic testing, important for any official or legal document, is being finalized and a review of the legislation pertaining to patient's rights in each Member State is already available for 15 countries and minimal criteria for quality genetic counseling have been defined and tools to evaluate performance are available • Core competences for health professionals have been defined and leaflets explaining to families different aspects of a visit to a genetic clinic are freely available in 27 languages