Since their introduction, genetic tests and their widespread application have been considered carefully, with special attention to the release of information about the test and test results, the confidentiality of genetic information, whether the test was taken voluntarily, the responsibility towards blood relatives and the psychological impact of the test. When, for example, a genetic disorder is diagnosed in an index-patient, other family members might also be at risk of developing the disease or passing it to their offspring. For competent adults, it is agreed that the provision of genetic testing should be based on respect for the principle of self-determination of the persons concerned. For this reason, any genetic testing, even when offered systematically (eg as a screening test), should be subject to their express, free and informed consent. In this set of recommendations genetic screening of asymptomatic minors is not considered, except for the possibility of incidental discovery of carrier status. Neither will susceptibility testing for multifactorial diseases be considered, owing to its limited clinical validity and utility at this time. These recommendations concern genetic testing of asymptomatic minors in a clinical context (testing on request of the parents or the minors themselves).
Careful consideration is needed when family members at risk are asymptomatic children or adolescents. Cautious reflection is needed on whether and under what conditions genetic testing might be performed on asymptomatic minors. With these recommendations, the European Society of Human Genetics (ESHG) wants to address in detail the issue of genetic testing in asymptomatic minors. We wish to stress that predictive genetic testing of asymptomatic minors should only be considered after detection of the mutation in the family. Of course, diagnostic testing of minors can follow clinical assessment to confirm a diagnosis.
First, these recommendations will propose some general considerations regarding the treatment of minors and the process of genetic counseling. Second, recommendations are formulated regarding presymptomatic and predictive genetic testing in minors, and for incidental and intentional carrier testing. We are aware of the terminological discussion with regard to genetic testing, but cannot study this in detail in this document. For the purpose of this document, we will use following definitions. The term presymptomatic diagnosis is only used for those situations in which an abnormal test result will almost inevitably lead to development of the disease at some point in later life, whereas the term predictive testing covers a broader range of situations, namely also situations in which an abnormal test result implies a substantial risk, but not certainty, of developing the disease later in life. In addition, it is essential to distinguish between presymptomatic and predictive genetic testing for monogenic diseases and susceptibility genetic testing for multifactorial diseases. Carrier tests are performed to determine whether an asymptomatic male or female carries a mutation relevant for an autosomal recessive disorder, whether an asymptomatic female carries a mutation relevant for an X-linked disorder or whether an asymptomatic person has a balanced chromosomal rearrangement. Minors are defined as all human beings who have not reached the age of legal majority in health decisions. The onset of a condition is defined as the time of appearance of the first clinical symptoms of the condition or its first manifestations detected by laboratory tests, radiological results or other technical examinations.
To discuss these issues and produce recommendations from the professional point of view, a draft background document and recommendations were prepared by Pascal Borry and Kris Dierickx, who had been involved in a EUROGENTEST (www.eurogentest.org) work package on testing in minors. These documents were discussed in a workshop with an ad-hoc committee of the Public and Professional Policy Committee (PPPC) of the ESHG at a workshop in November 2007 in Leuven, Belgium. Revised versions were discussed at the PPPC meetings in April 2008 in Amsterdam and in June 2008 in Barcelona. The recommendations, as endorsed by the ESHG board, are given below, and the background considerations are given separately, in the subsequent document.