Predictive genetic testing is now routinely offered to asymptomatic adults at risk for genetic disease. However, testing of minors at risk for adult-onset conditions, where no treatment or preventive intervention exists, has evoked greater controversy and inspired a debate spanning two decades. This review aims to provide a detailed longitudinal analysis and concludes by examining the debate's current status and prospects for the future. Fifty-three relevant theoretical papers published between 1990 and December 2010 were identified, and interpretative content analysis was (...) employed to catalogue discrete arguments within these papers. Novel conclusions were drawn from this review. While the debate's first voices were raised in opposition of testing and their arguments have retained currency over many years, arguments in favour of testing, which appeared sporadically at first, have gained momentum more recently. Most arguments on both sides are testable empirical claims, so far untested, rather than abstract ethical or philosophical positions. The dispute, therein, lies not so much in whether minors should be permitted to access predictive genetic testing but whether these empirical claims on the relative benefits or harms of testing should be assessed. (shrink)

Newborn screening is the programme through which newborn babies are screened for a variety of conditions shortly after birth. Programmes such as this are individually oriented but resemble traditional public health programmes because they are targeted at large groups of the population and they are offered as preventive interventions to a population considered healthy. As such, an ethical tension exists between the goals of promoting the high uptake of supposedly ‘effective’ population-oriented programmes and the goal of promoting genuinely informed decision-making. (...) There is, however, a lack of understanding with regard to how parents experience the tension between promoting uptake and facilitating informed choice. This paper addresses this issue, and data are presented to show how aspects of the timing, presentation of information and procedural routinisation of newborn screening serves to impact on the decisions made by parents. (shrink)

Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality. However, proposals to expand the scope and complexity of such testing are not all supported by a similar level of evidence for unequivocal benefit. We argue (...) that screening for genetic susceptibility to complex disorders is inherently different from standard screening and, while of potential value, must be considered separately from conventional testing. (shrink)

Purpose: This study explores social networkers' interest in and attitudes toward personal genome testing (PGT), focusing on expectations related to the clinical integration of PGT results. Methods: An online survey of 1,087 social networking users was conducted to assess 1) use and interest in PGT; 2) attitudes toward PGT companies and test results; and 3) expectations for the clinical integration of PGT. Descriptive statistics were calculated to summarize respondents' characteristics and responses. Results: Six percent of respondents have used PGT, 64% (...) would consider using PGT, and 30% would not use PGT. Of those who would consider using PGT, 74% report they would use it to gain knowledge about disease in their family. 34% of all respondents consider the information obtained from PGT to be a medical diagnosis. 78% of those who would consider PGT would ask their physician for help interpreting test results, and 61% of all respondents believe physicians have a professional obligation to help individuals interpret PGT results. Conclusion: Respondents express interest in using PGT services, primarily for purposes related to their medical care and expect physicians to help interpret PGT results. Physicians should therefore be prepared for patient demands for information and counsel on the basis of PGT results. (shrink)

Advances in genomic medicine have lead to debate about the potential inclusion of genetic tests for susceptibility to common complex disorders in newborn screening programmes. Empirical evidence concerning psychosocial reactions to genetic testing is a crucial component of both ethical debate and policy development, but while there has been much speculation concerning the possible psychosocial impact of screening newborns for genetic susceptibilities, there remains a paucity of data. The aim of the study reported here is to provide some of this (...) missing empirical evidence, using type 1 diabetes as an example of a common disorder with multiple significant genetic contributors to its aetiology. Semi-structured interviews were conducted with 11 parents of babies who had received increased risk results in a study that involved newborn screening for genetic susceptibility to type 1 diabetes. Interpretative phenomenological analysis was used to evaluate the data. The interview data suggest that the probabilistic nature of results of genetic susceptibility tests impacts upon all aspects of parents' psychosocial reactions, resulting in a complex and dynamic process quite different to that described in relation to current newborn screening programmes. While parents generally reported fairly minor levels of concern in response to news of their child's increased genetic risk, these worries frequently recurred, and perception of risk also varied and fluctuated over time. Both individual and contextual factors appeared to interact with the inherent uncertainty of the test result to contribute to the dynamic nature of parental reactions, and their behavioural responses. The implications of these findings for future research and for the debate concerning potential expansion of newborn screening are discussed. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Convention for Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Biomedicine: Convention on Human Rights and BiomedicineCouncil of EuropePreambleThe Member States of the Council of Europe, the other States and the European Community signatories hereto,Bearing in mind the Universal Declaration of Human Rights proclaimed by the General Assembly of the United Nations on 10 December 1948;Bearing in mind the (...) Convention for the Protection of Human Rights and Fundamental Freedoms of 4 November 1950;Bearing in mind the European Social Charter of 18 October 1961;Bearing in mind the International Covenant on Civil and Political Rights and the International Covenant on Economic, Social and Cultural Rights of 16 December 1966;Bearing in mind the Convention for the Protection of Individuals with Regard to Automatic Processing of Personal Data of 28 January 1981;Bearing also in mind the Convention on the Rights of the Child of 20 November 1989;Considering that the aim of the Council of Europe is the achievement of a greater unity between its members and that one of the methods by which that aim is to be pursued is the maintenance and further realisation of human rights and fundamental freedoms;Conscious of the accelerating developments in biology and medicine;Convinced of the need to respect the human being both as an individual and as a member of the human species and recognising the importance of ensuring the dignity of the human being; [End Page 277]Conscious that the misuse of biology and medicine may lead to acts endangering human dignity;Affirming that progress in biology and medicine should be used for the benefit of present and future generations;Stressing the need for international co-operation so that all humanity may enjoy the benefits of biology and medicine;Recognising the importance of promoting a public debate on the questions posed by the application of biology and medicine and the responses to be given thereto;Wishing to remind all members of society of their rights and responsibilities;Taking account of the work of the Parliamentary Assembly in this field, including Recommendation 1160 (1991) on the preparation of a Convention on bioethics;Resolving to take such measures as are necessary to safeguard human dignity and the fundamental rights and freedoms of the individual with regard to the application of biology and medicine;Have agreed as follows:Chapter IGeneral provisionsArticle 1. (Purpose and object)Parties to this Convention shall protect the dignity and identity of all human beings and guarantee everyone, without discrimination, respect for their integrity and other rights and fundamental freedoms with regard to the application of biology and medicine.Each Party shall take in its internal law the necessary measures to give effect to the provisions of this Convention.Article 2. (Primacy of the human being)The interests and welfare of the human being shall prevail over the sole interest of society or science.Article 3. (Equitable access to health care)Parties, taking into account health needs and available resources, shall take appropriate measures with a view to providing, within their jurisdiction, equitable access to health care of appropriate quality. [End Page 278]Article 4. (Professional standards)Any intervention in the health field, including research, must be carried out in accordance with relevant professional obligations and standards.Chapter IIConsentArticle 5. (General rule)An intervention in the health field may only be carried out after the person concerned has given free and informed consent to it.This person shall beforehand be given appropriate information as to the purpose and nature of the intervention as well as on its consequences and risks.The person concerned may freely withdraw consent at any time.Article 6. (Protection of persons not able to consent)1. Subject to Articles 17 and 20 below, an intervention may only be carried out on a person who does not have the capacity to consent, for his or her direct benefit.2. Where, according to law, a minor does not have the capacity to consent to an intervention, the intervention may only be carried out with the authorisation of his or her representative or an authority or a person or... (shrink)

The paper by Mand et al raises important questions about the predictive genetic testing of children. They focus on those claims made by professionals that are open to empirical enquiry and give too little weight to those claims that do not require empirical support. The authors remind us that some commentators oppose empirical enquiry because of the concern that gathering evidence of the consequences of such testing may itself be harmful or unethical. They respond by asserting that the relevant research (...) questions are ‘eminently testable’ but fail to discuss the challenges of such research, including the questions of timescale, consent or the nature of the data whose collection (they assert) would resolve the perceived difficulties with the genetic testing of children. They conclude that empirical research is required without resolving the weighty arguments against predictive testing of young children or explaining how the evidence they wish to collect could overcome the force of the arguments that favour caution. (shrink)

The debate over the genetic testing of minors has developed into a major bioethical topic. Although several controversial questions remain unanswered, a degree of consensus has been reached regarding the policies on genetic testing of minors. Recently, several commentators have suggested that these policies are overly restrictive, too narrow in focus, and even in conflict with the limited empirical evidence that exists on this issue. We respond to these arguments in this paper, by first offering a clarification of three key (...) concepts—autonomy of the minor, future autonomy, and parental authority—which must be disentangled. We then respond to the arguments by noting the uncertainty of the value of predictive genetic information, and by assessing the psychosocial risks still involved in genetic testing of minors, which are also largely unknown. We conclude that the current consensus position is justified at this stage, in light of the predictions of harm resulting from genetic testing of minors that have not been adequately proved to be unwarranted. (shrink)

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. (shrink)

The right not to know is underappreciated in policy-making. Despite its articulation in medical law and ethics, policy-makers too easily let other concerns override the right not to know. This observation is triggered by a recent decision of the Dutch government on embryo selection for Huntington’s disease. This is a monogenetic debilitating disease without cure, leading to death in early middle age, and thus is a likely candidate for preimplantation genetic diagnosis. People possibly affected with the Huntington gene do not (...) always want to know their genetic status themselves, which is very burdensome knowledge. For prospective parents, this creates a difficulty in having unaffected children through embryo selection without knowing their own genetic status. A solution is provided by the exclusion test: it allows embryo selection while honouring the parents’ right not to know. The Dutch government however disallowed the exclusion test and chose to allow PGD on Huntington only for parents who test themselves first. To avoid “unnecessary” in-vitro fertilisation procedures for unaffected parents, prospective parents are “forced to know” before they can conceive through embryo selection. This article analyses the scope of the right not to know in the context of embryo selection against Huntington’s disease. It concludes that the right not to know implies that PGD against Huntington should be allowed by means of the exclusion test. (shrink)