The Genetic Testing of Children

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

List of contributors -- Acknowledgements -- Preface -- Introduction -- Social and ethical issues around genetics -- Children and childhood -- Issues for practitioners (genetic counsellors) -- Genetic testing in childhood -- The relevant genetic contexts -- Discussions about testing children -- Lessons from screening children for susceptibility to disease -- The 'adoption' model of genetic information -- The contents of this volume -- References -- PART ONE: SETTING THE SCENE -- 1 The genetic testing of children: some legal and ethical concerns /Sheila A.M. McLean -- Introduction -- Presymptomatic testing for childhood-onset disorders -- Testing for late-onset disorders -- Conclusion -- References -- 2 Talking to children - and talking with them /Priscilla Alderson -- Introduction -- Words and meanings -- Risk in talking with children -- Contradictions -- Timing and content -- Competence -- Conclusion -- References -- 3 Reflections on genetic testing in childhood /Dietmar Mieth -- Pragmatic ethical issues concerning diagnostic tests on children -- Fundamental ethical issues concerning genetic tests on children -- References -- PART TWO: CARRIER T ESTING IN CHILDH OOD -- 4 On the receiving end of genetic medicine /Christine Lavery -- Introduction -- MPS diseases -- Conclusion -- 5 Testing children for balanced chromosomal translocations: parental views and experiences /Chris Barnes -- Introduction -- Materials and methods -- Results -- Discussion and conclusions -- References -- 6 Identifying carriers of balanced chromosomal translocations: interviews with family members /Anita Jolly, Evelyn Parsons and Angus Clarke -- Introduction -- Methodology -- Coming to terms with being a carrier - how family members coped with learning about their carrier status -- The tentative pregnancy -- Feeling 'different' -- The age of consent -- Responses to genetic counselling -- Summary -- References -- A retrospective study of genetic carrier testing in childhood -- OutiJarvinen and Helena Kaiiridinen -- Introduction -- Problems in testing children -- What would be the optimal age for testing? -- The practice of carrier testing - past and present -- The aims of this study -- Conclusion -- References -- Childhood testing for carrier status: the perspective of the Genetic Interest Group -- John Gillott -- Introduction -- Extract from the GIG response to the Clinical Genetics Society Report: 'The Genetic Testing of Children' -- Clarification -- Why testing for carrier status is different from testing for adult-onset conditions -- Parental autonomy and the danger of harm -- References -- PART THREE: PREDICTIVE GENETIC TESTING -- 9 Telling the children /Heather Skirton -- Introduction -- Study -- Setting the scene -- Issues of disclosure -- The process of renegotiation -- Conclusion -- References -- 10 Family processes in regard to genetic testing /Seymour Kessler -- Abstract -- Introduction -- Shame and guilt -- Family dynamics -- The protective function of families -- The psychological needs of children -- References -- 11 Adolescent requests for predictive genetic testing /Julia Binedell -- Introduction -- Current guidelines -- The costs and benefits of childhood genetic testing -- Self-referral by adolescents -- The legal precedent for assessment of competence -- How should decision-making competence by defined? -- What is the evidence concerning competence in adolescents? -- Barriers to competent decision making in adolescence -- How do adults make genetic-related decisions? -- How should competence be assessed, and by whom? -- A framework for assessing competence in adolescence -- Conclusions -- Acknowledgements -- References -- 12 Moving away from the Huntington's disease paradigm in the predictive genetic testing of children /Cynthia B. Cohen -- Abstract -- Introduction -- Disadvantages of testing children for adult-onset conditions -- Benefits of testing children for adult-onset conditions -- Other factors relevant to a decision -- The roles of parents and professionals in the decision -- Social import of predictive testing of children -- References -- 13 Cancer susceptibility testing: risks, benefits and personal beliefs /Andrea Farkas Patenaude -- Introduction -- Which children are potential testing candidates? -- Complexity of cancer risk identification -- Testing for which genes? Under what conditions? With what safeguards? -- Risks of genetic testing of children for cancer susceptibility -- Will parents want to test children? -- The impact of personal beliefs on the utilization of genetic testing -- Professional guidelines and a need for public education -- Summary -- Acknowledgement -- References -- PART FOUR: RESEARCH PERSPECTIVES -- 14 The genetic testing of children: adult attitudes and children's understanding /Martin Richards -- Introduction -- Diagnostic genetic testing -- Predictive testing -- Carrier detection in recessively-inherited disorders -- Children's understanding of inheritance -- What are public attitudes to the genetic testing of children for late-onset genetic disorders -- References -- 15 Predictive genetic testing in children: the need for psychological research /Susan Michie and Theresa M. Marteau -- Abstract -- Introduction -- Views of users and providers -- Decision making in children -- Psychological impact of predictive testing -- Conclusion -- Acknowledgements -- References -- 16 Exploring the approach of psychology as a discipline to the childhood testing debate: issues of theory, empiricism and power /Lucy Brindle -- Introduction -- Empiricism as the key to objectivity -- Formulating objects of debate -- Accounting for inconsistency -- An alternative paradigm -- Psychology as contemporary theory -- Constructing the subject of genetic testing -- The formulation of informed decision making and competence within a cognitive framework -- Talking about childhood testing - a discursive alternative to attitudes, competence and informed consent -- Discussion -- References -- 17 Predictive and carrier testing of children: professional dilemmas for clinical geneticists /Alison Chapple, Carl May and Peter Campion -- Abstract -- Introduction -- Study group and method -- Discussion -- Acknowledgements -- References -- 18 Complementary methodologies in the evaluation of newborn screening for Duchenne muscular dystrophy /Evelyn Parsons and Don Bradley -- Introduction -- T he psychosocial evaluation -- Complementary methodologies discussed -- Complementary methodologies in practice -- Summary -- Conclusion -- References -- PART FIVE: THE WIDER CONTEXT -- 19 Childhood, genetics, ethics and the social context /Priscilla Alderson -- Introduction -- Policy from the past -- Today's attitudes towards childhood and adolescence -- Research about childhood -- Genetics and eugenics -- Abstract or evidence-based ethics? -- Reducing social into genetic concepts -- Conclusion -- References -- 20 Appropriate paternalism and the best interests of the child /Zarrina Kurtz -- Abstract -- Paternalism -- Rights -- Decision making -- Conclusion -- References -- 21 Predictive genetic screening and the concept of risk /Rogeer Hoedemaekers -- Introduction -- 'Risks' inherent in a genetic screening programme -- 'Uncertainty' and 'possibility', 'probability' and 'risk' -- Being at risk and taking a risk -- Genetic risk -- Risk perception, risk selection and risk taking -- The value of genetic information -- Conclusion -- Acknowledgements -- References -- 22 Commercial testing /Shirley Dalby -- Introduction -- Differences between the public and commercial sectors -- Causes for concern -- Who are the customers? -- Conclusions -- 23 International perspectives /Dorothy C. Wertz -- Abstract -- Introduction -- Survey methods -- Survey results -- Cultural and clinical contexts -- Discussion -- References -- Appendix 1. The genetic testing of children: Report of a working party of the Clinical Genetics Society -- Appendix 2. EURO SCREEN survey of attitudes to the genetic testing of children among members of the European Society of Human Genetics -- Index.