The Genetic Testing of Children

353 Pages·1997·31.488 MB·\353

by  Angus Clarke (Editor)

THE GENETIC TESTING
OF CHILDREN
Taylor & Francis

Taylor & Francis Group
http:/taylorandfrancis.com
THE GENETIC TESTING
OF CHILDREN
Angus Clarke
Institute ofMedical Genetics,

University of Wales College ofMedicine,

Cardiff, UK

/JIOS

SCIENTIFIC
PUBLISHERS
Oxford • Washington DC
©BIOS Scientific Publishers Limited, 1998

First published 1998

All rights reserved. No part ofthis book may be reproduced or transmitted, in any

form or by any means, without permission.

A CIP catalogue record for this book is available from the British Library.

ISBN 1 85996 052 9

BIOS Scientific Publishers Ltd

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Typeset by Saxon Graphics Ltd, Derby, UK
Contents
List of contributors Xl

Acknowledgements XV

Preface XVll

Introduction 1

Social and ethical issues around genetics 1

Children and childhood 3

Issues for practitioners (genetic counsellors) 4

Genetic testing in childhood 6

The relevant genetic contexts 7

Discussions about testing children 8

Lessons from screening children for susceptibility to disease 9

The 'adoption' model ofgenetic information 9

The contents of this volume 10

References 15

PART ONE: SETTING THE SCENE
1 The genetic testing of children: some legal and ethical concerns

Sheila A.M. McLean 17

Introduction 17

Presymptomatic testing for childhood-onset disorders 21

Testing for late-onset disorders 22

Conclusion 23

References 25

2 Talking to children-and talking with them Priscilla Alderson 27

Introduction 27

Words and meanings 28

Risk in talking with children 28

Contradictions 29

Timing and content 32

Competence 33

Conclusion 35

References 35

3 Reflections on genetic testing in childhood Dietmar Mieth 37

Pragmatic ethical issues concerning diagnostic tests on children 37

Fundamental ethical issues concerning genetic tests on children 43

References 44

v
vi CONTENTS
PART TWO: CARRIER TESTING IN CHILDHOOD
4 On the receiving end of genetic medicine Christine Lavery 47

Introduction 47

MPS diseases 47

Conclusion 50

5 Testing children for balanced chromosomal translocations: parental

views and experiences Chris Barnes 51

Introduction 51

Materials and methods 52

Results 52

Discussion and conclusions 57

References 60

6 Identifying carriers of balanced chromosomal translocations:

interviews with family members Anita]olly, Evelyn Parsons and

Angus Clarke 61

Introduction 61

Methodology 63

Corning to terms with being a carrier-how family members coped

with learning about their carrier status 67

The tentative pregnancy 71

Feeling 'different' 73

The age of consent 78

Responses to genetic counselling 83

Summary 87

References 88

7 A retrospective study of genetic carrier testing in childhood

Outi]iirvinen and Helena Kiiiiriiiinen 91

Introduction 91

Problems in testing children 91

What would be the optimal age for testing? 92

The practice of carrier testing-past and present 93

The aims of this study 93

Conclusion 96

References 96

8 Childhood testing for carrier status: the perspective of the Genetic

Interest Group John Gillott 97

Introduction 97

Extract from the GIG response to the Clinical Genetics Society

Report: 'The Genetic Testing of Children' 98

Clarification 99

Why testing for carrier status is different from testing for

adult-onset conditions 100

Parental autonomy and the danger of harm 100

References 102
CONTENTS vii

PART THREE: PREDICTIVE GENETIC TESTING
9 Telling the children Heather Skirton 103

Introduction 103

Study 103

Setting the scene 1OS

Issues of disclosure 106

The process ofrenegotiation 109

Conclusion 110

References 111

10 Family processes in regard to genetic testing Seymour Kessler 113

Abstract 113

Introduction 113

Shame and guilt 114

Family dynamics 116

The protective function offamilies 118

The psychological needs ofchildren 120

References 121

11 Adolescent requests for predictive genetic testing Julia Binedell 123

Introduction 123

Current guidelines 123

The costs and benefits of childhood genetic testing 124

Self-referral by adolescents 125

The legal precedent for assessment of competence 125

How should decision-making competence by defined? 126

What is the evidence concerning competence in adolescents? 126

Barriers to competent decision making in adolescence 127

How do adults make genetic-related decisions? 128

How should competence be assessed, and by whom? 128

A framework for assessing competence in adolescence 129

Conclusions 129

Acknowledgements 130

References 130

12 Moving away from the Huntington's disease paradigm in the

predictive genetic testing of children Cynthia B. Cohen 133

Abstract 133

Introduction 134

Disadvantages of testing children for adult-onset conditions 134

Benefits of testing children for adult-onset conditions 136

Other factors relevant to a decision 138

The roles of parents and professionals in the decision 140

Social import of predictive testing ofchildren 141

References 142
viii CONTENTS
13 Cancer susceptibility testing: risks, benefits and personal beliefs
Andrea Farkas Patenaude 145
Introduction 145
Which children are potential testing candidates? 146
Complexity of cancer risk identification 146
Testing for which genes? Under what conditions? With what
safeguards? 147
Risks ofgenetic testing of children for cancer susceptibility 150
Will parents want to test children? 150
The impact ofpersonal beliefs on the utilization ofgenetic testing 151
Professional guidelines and a need for public education 153
Summary 153
Acknowledgement 154
References 154
PART FOUR: RESEARCH PERSPECTIVES
14 The genetic testing of children: adult attitudes and children's
understanding Martin Richards 157
Introduction 157
Diagnostic genetic testing 157
Predictive testing 158
Carrier detection in recessively-inherited disorders 159
Children's understanding of inheritance 160
What are public attitudes to the genetic testing ofchildren for
late-onset genetic disorders 165
References 167
15 Predictive genetic testing in children: the need for psychological
research Susan Michie and Theresa M. Marteau 169
Abstract 169
Introduction 169
Views ofusers and providers 170
Decision making in children 171
Psychological impact of predictive testing 175
Conclusion 178
Acknowledgements 179
References 179
16 Exploring the approach of psychology as a discipline to the
childhood testing debate: issues oftheory, empiricism and
power Lucy Brindle 183
Introduction 183
Empiricism as the key to objectivity 183
Formulating objects of debate 184
Accounting for inconsistency 184
An alternative paradigm 185
Psychology as contemporary theory 186
CONTENTS ix
Constructing the subject of genetic testing 187
The formulation of informed decision making and competence
within a cognitive framework 188
Talking about childhood testing-a discursive alternative to
attitudes, competence and informed consent
190
Discussion
191
References
192
17 Predictive and carrier testing of children: professional dilemmas for
clinical geneticists Alison Chapple, Carl May and Peter Campion 195.
Abstract
195
Introduction
195
Study group and method
198
Discussion
208
Acknowledgements
209
References
209
18 Complementary methodologies in the evaluation of newborn
screening for Duchenne muscular dystrophy Evelyn Parsons and
Don Bradley 211
Introduction
211
The psychosocial evaluation
212
Complementary methodologies discussed
217
Complementary methodologies in practice
217
Summary
220
Conclusion
221
References
221
PART FIVE: THE WIDER CONTEXT
19 Childhood, genetics, ethics and the social context Priscilla Alderson 223
Introduction
223
Policy from the past
223
Today's attitudes towards childhood and adolescence
224
Research about childhood
226
Genetics and eugenics
229
Abstract or evidence-based ethics?
230
Reducing social into genetic concepts
231
Conclusion
233
References
234
20 Appropriate paternalism and the best interests of the child
Zarrina Kurtz 237
Abstract
237
Paternalism
237
Rights
240
Decision making
241
Conclusion
243
References
243
ix