Definitions of genetic testing in European legal documents

Abstract

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 J Community Genet (2012) 3:125-141 DOI 10.1007 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.

Editorial: Genetics and Democracy

“…Jorge Sequerios presents his contribution on genetic definitions in European legal documents and international recommendations, guidelines and reports in two co-authored papers (Varga et al 2012;Sequeiros et al 2012).…”

“…Definitions are core elements of legal documents, and their accuracy and harmonization (particularly within a particular legal field) are critical to the interpretation of the document, if their implementation is not to be compromised. In the paper by Varga et al (2012), the authors conclude that they have gathered evidence for the need of a clear differentiation between (a) "clinical genetics testing", (b) "genetics laboratory-based genetic testing" and (c) "genetic information".…”

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports

“…This work led to two preliminary background documents on definitions of genetic testing contained in international recommendations and professional guidelines (Sequeiros and Guimarães 2008) and in legal documents (Varga and Sequeiros 2008). A survey of EuroGentest participants and users of its website was also conducted for their interpretations and opinions about the feasibility of having a consensus (Pinto-Basto et al 2010).…”

“…A survey of EuroGentest participants and users of its website was also conducted for their interpretations and opinions about the feasibility of having a consensus (Pinto-Basto et al 2010). A study of the definitions of genetic testing in international and European (EU27 and national Member States) legislation and other legal documents is presented separately [(Varga et al 2012), this number]. All this provided evidence for the proposal of a decision-framework and a set of definitions to be considered when regulating genetic testing (Sequeiros 2010).…”

Scope of definitions of genetic testing: evidence from a EuroGentest survey

“…Through a series of initiatives, EUGT encourages the harmonisation of standards and practise in these areas throughout the EU and beyond. Unit 3 (Clinical, Community and Public Health Genetics) of EUGT had, as one of its objectives, to analyse the various definitions of 'genetic testing' adopted by different organisations (professional, governmental, international) and propose consensus definitions, if possible (Sequeiros and Guimarães 2007;Varga and Sequeiros 2009).…”