News

The European Society of Human Genetics (ESHG) has published a set of recommendations concerning genetic testing of asymptomatic minors in a clinical context [Eur J Hum Genet (2009) 17: 720-721]. The recommendations follow a period of public consultation (see previous news) and are accompanied by a background paper discussing some of the general considerations with regards to the provision of genetic tests to minors [Borry P et al. Eur J Hum Genet (2009) 17: 711-719].

Several different testing scenarios are discussed, including genetic testing for adult-onset disorders, childhood-onset disorders and carrier testing. The papers also make an important distinction between presymptomatic testing, where an abnormal test result implies that the disease will almost certainly develop later in life, and predictive testing, where an abnormal result implies a substantial risk that the disease may develop later in life. The guiding principles that were considered when writing the recommendations included the concept of ‘best interests’ of the child, the ability of minors to make informed health care decisions, parents' responsibilities to share genetic information, and the role of clinical geneticists and genetic counsellors in communicating with the family.

The recommendations state that the primary reason to carry out a genetic test on a minor (who does not have the capacity to consent) should be his or her direct benefit and, the opinion of the minor shall be taken into account in proportion to their degree of maturity. Importantly, due to the potential anxieties and concerns of both parents and children, genetic counselling is always required when considering testing in asymptomatic minors.

The ESHG make a number of recommendations in relation to presymptomatic and predictive tests. For those conditions with adult-onset, testing is only acceptable if preventative actions cannot be deferred until the child is mature enough to understand the decision and its consequences. Where conditions arise in childhood, the recommendations distinguish between those for which an effective treatment or prevention is available (where the case for testing may be compelling) and those for which there may be no available treatment or prevention (where the harms and benefits of testing may be finely balanced). Importantly, the ESHG does not exclude such testing if a case for psychological or social benefit of the child and his family can be made out.

Comment: Whilst these recommendations are welcome, they will come as no great surprise to many in the UK, where they largely reflect current best practice for clinical geneticists and genetic counsellors. However, there may be difficulties applying the recommendations where the clinical manifestations of a condition are not well understood, either because it is rare or because there is variability in the age of onset or severity of the condition. There may also be important implications for direct-to-consumer (DTC) genetic testing.

The UK Human Genetics Commission, which is currently drafting a Common Framework of Principles for DTC genetic tests, has acknowledged that the genetic testing of children is a particularly contentious issue (see BMJ news). There are practical challenges in preventing access to these tests by children via the internet, and arguments about the extent to which genetic information should be treated as exceptional. The Framework will be made available for public consultation before being finalised. It is also notable that in focusing upon test outcomes the ESHG recommendations seem to mandate a more sustained and systematic intervention from clinical genetics professionals.