Tom Goffin

Attitudes regarding predictive genetic testing in minors: a survey of European clinical geneticists

The aim of this study is to gather information from European clinical geneticists about their practices and attitudes with regard to presymptomatic and predictive genetic testing in minors. European clinical institutes where genetic counseling is offered to patients were contacted. One hundred seventy‐seven of the 287 eligible respondents (63%) answered a questionnaire. There was strongest support for testing young children when it provides a clear medical benefit, such as in the case of FAP and MEN2A. However, there is disagreement about when to provide predictive genetic testing for childhood‐onset disorders for which therapeutic or preventive measures exist with some supporting the rule of earliest onset and others giving parents wider discretion. However, for childhood‐onset disorders that do not have therapeutic measures, the majority of the respondents is unwilling to provide a presymptomatic or predictive genetic test. With respect to adolescents, many held a cautious position regarding presymptomatic and predictive genetic testing. Most clinical geneticists were unwilling to provide a presymptomatic or predictive genetic test for adult‐onset diseases, except if it might provide a medical benefit. Although adolescents might be legally in the position to request a presymptomatic or predictive genetic test personally, the clinical geneticists are significantly more willing to provide a test if this request is made together with the minors parents. This variability demonstrates the need for clinical geneticists to discuss their contradicting views and to develop harmonized practices throughout Europe.

Predictive genetic testing in minors for adult-onset genetic diseases.

This article analyses the ethical discussion of predictive genetic testing in minors for genetic conditions for which there is no phenotypic evidence for disease at the considered time of testing and for which there is currently no treatment available to prevent or forestall the development of the condition. After a presentation of the position of various professional guidelines, we discuss the position and arguments that have been advanced in a recent article that defends a position that is opposed to the professional recommendations. In the article, we discuss the position of voluntary choices and autonomous and informed decision-making in a context of open communication. Thereafter, we analyze the nonmedical benefits and harm related to this type of testing. Finally, we critically analyze 4 arguments: the potential provision of good news if a test is performed, the unbearability of knowing, identity and adjustment, and parental anxiety and uncertainty.

Minors and informed consent: a comparative approach

The European Convention on Human Rights and Biomedicine of the Council of Europe provides in article 6 for special protection of persons who are not able to give free and informed consent to an intervention in the health field, e.g. minors. According to the second paragraph of this article it is up to domestic law to decide whether and under which conditions a minor is capable of taking autonomous decisions in the health field. In the present article an overview is given of the legal regulations in place regarding the position of minors in a health care setting in the EU Member States that have ratified the European Convention on Human Rights and Biomedicine namely Cyprus, Czech Republic, Denmark, Estonia, Greece, Hungary, Lithuania, Portugal, Slovakia, Slovenia and Spain. As the overview will show, the legal position of minor patients in a health care setting varies from country to country. This in view of the system they have opted for as well as the age and circumstances under which minors are allowed to take health care decisions autonomously.

Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists

The aim of this study is to gather information from European clinical geneticists about their practices and attitudes with regard to carrier testing in incompetent children. European clinical institutes where genetic counseling is offered to patients have been contacted. One hundred and seventy-seven of the 287 eligible respondents, corresponding to a response rate of 63%, completed the questionnaire. For all autosomal recessive and X-linked disorders studied, the majority of the respondents were very unwilling or unwilling to provide a carrier test to a 6-year-old asymptomatic child on parental request (range 73–91%). The results of the Wilcoxon–Mann–Whitney U test indicated that for almost all disorders, respondents from Eastern and Southern European countries are more willing to provide a carrier test to a 6-year-old asymptomatic child than respondents from Western and Northern European countries. The Spearmans rank correlation coefficients showed that when a clinical geneticist was unwilling to perform such a test, he/she mostly disagreed that parental uncertainty and anxiety was a good reason to perform a carrier test, he/she mostly disagreed that parents should have the right to decide about such a test, he/she mostly agreed that future autonomy and the confidentiality of genetic information is violated if this test is performed. Overall, the survey showed an adherence to existing recommendations and guidelines regarding carrier testing in incompetent minors. However, for every condition studied, a group of clinical geneticists was willing or very willing to provide a carrier test to a 6-year-old child on parental request.