ESHG recommendations on genetic testing in minors

8 August 2008

Proposed recommendations and a background document on genetic testing in asymptomatic minors have been released by the European Society of Human Genetics (ESHG) for comment (see website). The recommendations concern genetic testing of asymptomatic minors in a clinical context, where testing has been requested by either the parents or the minors themselves. The document begins by discussing general considerations regarding the treatment of minors and the process of genetic counselling prior to outlining recommendations relating to predictive genetic testing, intentional carrier testing and incidental discovery of carrier status. The recommendations do not cover genetic screening except for the possibility of incidental discovery of carrier status. It also does not cover genetic susceptibility tests due to “their limited clinical validity and utility” or neonatal screening.

The background document reviews the major issues and discussions with regard to predictive genetic testing for adult-onset disorders, for preventable or treatable childhood-onset disorders and carrier testing. The ESHG hopes that these documents will involve the genetics community in debate on genetic testing in asymptomatic minors and help address the issue in a thorough way. The documents and details of where to send the comments are available on the ESHG website; the deadline is August 15 2008.

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