Herman Nys

Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers

The objective of this study is to review ethical and clinical guidelines and position papers concerning the presymptomatic and predictive genetic testing of minors. The databases Medline, Philosopher’s Index, Biological Abstracts, Web of Science and Google Scholar were searched using keywords relating to the presymptomatic and predictive testing of children. We also searched the websites of the national bioethics committees indexed on the websites of World Health Organization (WHO) and the German Reference Centre for Ethics in the Life Sciences, the websites of the Human Genetics Societies of various nations indexed on the website of the International Federation of Human Genetics Societies and related links and the national medical associations indexed on the website of the World Medical Association. We retrieved 27 different papers dealing with guidelines or position papers that fulfilled our search criteria. They encompassed the period 1991–2005 and originated from 31 different organizations. The main justification for presymptomatic and predictive genetic testing was the direct benefit to the minor through either medical intervention or preventive measures. If there were no urgent medical reasons, all guidelines recommend postponing testing until the child could consent to testing as a competent adolescent or as an adult. Ambiguity existed for childhood‐onset disorders for which preventive or therapeutic measures are not available and for the timing of testing for childhood‐onset disorders. Although the guidelines covering presymptomatic and predictive genetic testing of minors agree strongly that medical benefit is the main justification for testing, a lack of consensus remains in the case of childhood‐onset disorders for which preventive or therapeutic measures are not available.

Legislation on direct-to-consumer genetic testing in seven European countries

An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

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.

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

Stored tissue samples are an important resource for epidemiological genetic research. Genetic research on biological material from minors can yield valuable information on the development and genesis of early-onset genetic disorders and the early interaction of environmental and genetic factors. The use of such tissue raises some specific ethical and governance questions, which are not completely covered by the discussion on biological materials from adults. We have retrieved 29 guidelines and position papers pertaining to the storage and use of biological tissue samples for genetic research, originating from 27 different organizations. Five documents have an international scope, three have an European scope and 21 have a national scope. We discovered that 11 of these documents did not contain a section on biological materials from minors. The content of the remaining 18 documents was categorized according to four themes: consent, principles of non-therapeutic research on vulnerable populations, ethics committee approval and difference between anonymous and identifiable samples. We found out that these themes are not consistently mentioned by each document, but that documents discussing the same themes were mostly in agreement with their recommendations. However, a systematic reflection on the ethical and policy issues arising from the participation of minors in biobank research is missing.

The Storage and Use of Biological Tissue Samples from Minors for Research: A Focus Group Study

Genetic research on pediatric stored tissue samples raises specific ethical questions that differ from those raised when adults are the donors. To investigate opinions on this matter, we conducted 10 focus group discussions. Five focus groups were conducted with adult participants and 5 had teenage participants between 15 and 19 years old. The discussions were analyzed with NVIVO 8 (qualitative research software). We found the following recurrent categories: the requirement that research should not pose any burden on children and that it should benefit other children, the trust people had in the role of parents, the need for information and the growth towards autonomy. Both the adults and teenagers we interviewed thought that the inclusion of tissue samples from minors in research had ethical implications. A major concern was that nontherapeutic research would pose no extra burden on children, which would assume the use of nonintrusive methods of gathering samples and the use of samples that were gathered in a diagnostic context. Participants, however, also understood the necessity of such research. The overall impression was that parents would be the best persons to make decisions on behalf of a small child and that the same parents would engage their children in the decision-making when they grew older. People thought that there was a duty to recontact minors when they reached the age of competence but on a best-effort basis.

Children, biobanks and the scope of parental consent

The use of stored tissue samples from children for genetic research raises specific ethical questions that are not all analogous to those raised when adult participants are concerned. These include issues with regard to consent, as it is typically a parent who consents to the use of samples from children. In this paper, we discuss the scope of parental consent. This scope has a temporal dimension and one related to the content of consent. It is not questioned that the temporal scope of parental consent is limited and that young adults have the right to decide on the fate of their samples when they reach the age of maturity. With regard to the content of consent, the question remains whether parents are allowed to give full broad consent to any possible future research on the samples of their children. We argue that they should not be allowed to do so, based on two premises. First, it is generally acknowledged that children have a right to express their own values and that they should be given the opportunity to develop their own autonomy as they grow older. Second, research and science are not completely value-free and some types of research may be more sensitive than other types. Children should be given the opportunity to express their values also in this respect.

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.

Minors and informed consent in carrier testing: a survey of European clinical geneticists

Purpose: A study was made of attitudes of clinical geneticists regarding the age at which minors should be allowed to undergo a carrier test and the reasons they provide to explain their answer. Methods: European clinical institutions where genetic counselling is offered to patients were contacted. 177 (63%) of the 287 eligible respondents answered a questionnaire. Results: Clinical geneticists were significantly more in favour of providing a carrier test to a younger person if the request was made together with the parents than if the adolescent requested the test personally. Although a large fraction of respondents (16%–30%) were “neither unwilling nor willing” to provide a carrier test to a 16-year-old adolescent who requested the test personally, for most disorders slightly more clinical geneticists were “very willing” or “willing”. Conclusion: Age is not the only decisive element when considering the participation of adolescents in decisions affecting their health. The clinical geneticists referred to cognitive, emotional and sexual maturity and the support of parents as crucial elements in their comments regarding when to tell children about their genetic risk or to allow adolescents to request a carrier test.

Towards an international treaty on human rights and biomedicine? Some reflections inspired by UNESCO's Universal Declaration on Bioethics and Human Rights

The 33 session of the General Conference of UNESCO has adopted by acclamation on 19 October 2005 the Universal Declaration on Bioethics and Human Rights. After the Universal Declaration on the Human Genome and Human Rights (1997), followed by the Universal Declaration on Human Genetic Data (2003), the Universal Declaration on Bioethics and Human Rights is the third instrument related to bioethics adopted by UNESCO. It is also the most encompassing until now. While the focus of the Universal Declarations of 1997 and 2003 has been on genetics and life sciences, the recently adopted Universal Declaration covers many areas of bioethics. According to article1 paragraph a, this Declaration addresses ethical issues related to medicine, life sciences and associated technologies as applied to human beings, taking into account their social, legal and environmental dimensions. The Universal Declaration on Bioethics and Human Rights contains 28 articles, divided over 5 titles. Articles 1 and 2 contain the “General Provisions”. The already cited article1 describes the scope of the Declaration while article 2 proclaims its eight aims. The backbone of the Declaration is made up by the “Principles”, spread over the articles 3 to 17. They range from topics that (European) health lawyers will recognize immediately – such as human dignity and human rights (article 3), benefit and harm (article 4), autonomy (article5), consent (article 6), persons without the capacity to consent (article 7), respect for human vulnerability and personal integrity (article 8), privacy and confidentiality (article 9), equality, justice and equity (article 10) and non-discrimination and non-stigmatization (article 11) – to themes they are in general less acquainted with such as respect for cultural diversity and pluralism (article 12), solidarity and cooperation (article 13), social responsibility and health (article 14), sharing of benefits (article 15), protecting future generations (article 16) and the protection of the environment, the biosphere and biodiversity (article 17). The next title, “Application of the Principles” deals with matters as decision-making and addressing bioethical issues (article 18), ethics