Suchergebnisse

Genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to 'genetic testing', the term 'genetic screening' should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006–2008) status of genetic screening and the organization of genetic screening programmes in selected European countries as a background for future attempts to harmonize standards and procedures of genetic screening, an explicit aim of the European Network of Excellence, EuroGentest (www.eurogentest.org). Our report builds on the first comprehensive assessment of genetic screening programmes in Germany by the European Society of Human Genetics, starting with a workshop of experts in 1999, the production of background documentation in 2000, and a final report in 2003.

The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal documents were identified and examined-55 national and five international ones. Documents were analysed for the type (context) of testing and the material tested and compared by legal fields (privacy and confidentiality, data protection, biobanks, insurance and labour law, forensic medicine); some instruments are very complex and deal with various legal fields at the same time. There was no standard for the definitions used, and different approaches were identified (from wide general, to some very specific and technically based). Often, legal documents did not contain any definitions, and many did not distinguish between genetic testing and genetic information. Genetic testing was more often defined in non-binding legal documents than in binding ones. Definitions are core elements of legal documents, and their accuracy and harmonisation (particularly within a particular legal field) is critical, not to compromise their enforcement. We believe to have gathered now the evidence for adopting the much needed differentiation between (a) "clinical genetics testing", (b) "genetics laboratory-based genetic testing" and (c) "genetic information", as proposed before.