Applied Genetics in Healthcare

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ISBN: 9781859962749 | 1859962742
Cover: Nonspecific Binding
Copyright: 7/19/2005

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Applied Genetics in Healthcareis based on practical experience working in genetic healthcare and counseling, both in the UK and USA. The book provides a sound scientific basis for both students and practitioners in the field, supported by case studies.

Preface

Foundation level

Advanced level

Specialist genetics level

Using this book

xvi

Abbreviations

xvii

Introduction to genetic healthcare

Defining genetic healthcare

(1)

Definition of genetic counseling

(1)

Genetic services within a healthcare system

(6)

Genetic services in Europe

(2)

Genetic services in the USA

(1)

The professional role of the genetics nurse and the genetic counselor

(3)

Basic areas of genetics knowledge required by practitioners working in mainstream healthcare

(2)

Genetic services provided by other specialists

(1)

Conclusion

(3)

References

(2)

Foundations in genetic science

Introduction

(1)

The structure of the gene

(1)

The chromosomes

(8)

Mitosis and meiosis

(4)

Recombination

(1)

Imprinting

(4)

Uniparental disomy

(1)

Investigating the chromosome structure

(4)

Karyotyping

(1)

Fluorescent in situ hybridization

(1)

Single gene inheritance

(1)

Expression and penetrance

(1)

Mutations in the gene

(2)

Types of mutation

(2)

Mitochondrial inheritance

(1)

Polygenic inheritance

(1)

Laboratory testing

(1)

Conclusion

(4)

Study questions

(1)

References

(1)

Further resources

(2)

Working practically in genetic healthcare

Introduction

(1)

Constructing a family tree

(6)

Background

(2)

Ethical issues in taking a family tree

(2)

A practical format for drawing the family tree

(2)

Risk calculation

(11)

Background

(1)

Risk calculation using mode of inheritance

(4)

Risk estimates based on empirical data

(1)

Bayesian calculations

(3)

The Hardy--Weinberg equation

(2)

Prenatal testing

(2)

Psychological preparation and support of the couple

(1)

Liaison between the couple and the healthcare professionals

(1)

Interpretation and explanation of results

(1)

Predictive testing

(1)

Testing children

(1)

Organization of clinical screening

(1)

Managing rare complex conditions

(1)

Maintaining clinical registers/registries

(1)

Conclusion

(4)

Study questions

(1)

References

(1)

Further resources

(2)

Working professionally in genetic healthcare

Professionalism

(1)

Working ethically

(6)

The Hippocratic Oath as a basis for ethical practice in genetic healthcare

(1)

Principles of ethical practice

(5)

Working legally

(1)

Boundaries of practice

(1)

Using supervision

(1)

Ensuring appropriate documentation

(2)

Research evidence

(1)

Conclusion

(3)

Study questions

(1)

References

(1)

Further resources

(2)

Working to support families

Using counseling skills in the context of genetic counseling

(1)

The psychological needs of the client and their family

(1)

Person-centered counseling

(1)

Core conditions

(1)

Basic counseling skills

(4)

Use of open and closed questions

(1)

Reflection of feelings

(1)

Paraphrasing content

(1)

Summaries of the dialog

(1)

Non-verbal communication

(1)

Silence

(1)

Non-directiveness

(2)

Grief, loss, and mourning

(3)

Causes of grief

(1)

The tasks of mourning

(2)

Using a transactional analysis (TA) model

(1)

Transference and counter-transference in a genetic counseling setting

(1)

Counseling supervision

(1)

Conclusion

(3)

Study questions

(1)

References

(1)

Further resources

(1)

Working as an educator for families and professionals

Introduction

(1)

Expressing and understanding risk

(3)

The language of risk

(1)

Understanding risk

(1)

Principles of adult learning

(1)

Learning theories

(4)

Behaviorist theories

(1)

Cognitive theories

(1)

Humanist theories

(1)

Experiential learning

(1)

Learning styles

(1)

Practical applications

(2)

Use of internet resources

(1)

Conclusion

(4)

Study questions

(1)

References

(1)

Further resources

(2)

Working as a researcher

Ways in which research contributes to genetic counseling

101

(1)

The research methods continuum

101

(3)

Assumptions in quantitative research

102

(1)

Assumptions in qualitative research

103

(1)

Elements of the research process

104

(1)

Relevant research methods: qualitative

105

(1)

Relevant research methods: quantitative

106

(2)

Ethical considerations in research

108

(1)

Consent issues

109

(2)

Minor-aged children

110

(1)

Dissemination of information, presentations, posters, writing for publication

111

(1)

Conclusion

112

(5)

Study questions

112

(2)

References

114

(2)

Further resources

116

(1)

Autosomal dominant inheritance

Definition of dominant inheritance

117

(1)

Dominant inheritance pattern

117

(2)

Features of autosomal dominant inheritance

118

(1)

The distinction between risk of inheritance and risk of disease

119

(1)

Penetrance

119

(1)

Expressivity

120

(1)

Allelic heterogeneity

120

(1)

Types of mutation

121

(1)

Functional categories of mutations

121

(2)

Expansion

122

(1)

Predictive testing

123

(4)

Purposes

123

(1)

Limitations

124

(1)

Predictive testing -- benefits

124

(1)

Predictive testing -- risks for harm

124

(3)

Conclusion

127

(6)

Study questions

127

(2)

References

129

(1)

Further resources

130

(3)

Autosomal recessive inheritance

Introduction to autosomal recessive inheritance

133

(1)

Autosomal recessive inheritance

133

(2)

Features of autosomal recessive pattern of inheritance

133

(1)

Calculation of genetic risks in recessive disorders

134

(1)

Calculation of recurrence risk

134

(1)

The hemoglobinopathies

135

(4)

Sickle cell disease

135

(2)

Pathogenesis of the hemoglobinopathies

137

(1)

Synthesis of globin

138

(1)

Carrier frequencies

139

(2)

Molecular testing

141

(5)

Polymerase chain reaction

142

(1)

Southern blotting

143

(2)

Testing for mutations

145

(1)

Finding disease genes

146

(3)

Population screening

149

(4)

Neonatal screening

150

(3)

Hemochromatosis

153

(1)

Conclusion

153

(4)

Study questions

154

(1)

References

155

(1)

Further resources

156

(1)

X-linked inheritance

Introduction

157

(1)

Fragile X syndrome

157

(1)

X-linked inheritance

158

(1)

Features of X-linked recessive disorders

158

(1)

Duchenne muscular dystrophy

159

(1)

Mutations and mutation analysis

159

(3)

Single base-pair substitutions or point mutations

159

(1)

Insertions and deletions

160

(1)

Testing for mutations

161

(1)

Carrier testing

162

(4)

Bayesian calculations in X-linked conditions

162

(1)

Linkage

163

(2)

Gonadal mosaicism

165

(1)

Females with X-linked disorders

166

(1)

X-inactivation

166

(1)

X-linked dominant inheritance

167

(1)

Seeking consent from vulnerable individuals

167

(1)

Dynamic mutations in fragile X syndrome

168

(4)

Molecular genetic testing in fragile X syndrome

170

(1)

Special issues in fragile X syndrome

171

(1)

Conclusion

172

(3)

Study questions

172

(1)

References

173

(1)

Further resources

174

(1)

Familial cancer

What is cancer?

175

(1)

Inherited susceptibility to cancer

176

(1)

The causes of cancer

177

(2)

Knudson's hypothesis (two-hit theory)

177

(2)

Genetic counseling for familial cancer

179

(1)

Genetic assessment for familial cancer

179

(1)

Single gene disorders

179

(5)

von Hippel Lindau disease

180

(1)

Neurofibromatosis type I

181

(1)

Neurofibromatosis type II

182

(1)

Ataxia telangectasia

182

(1)

Li Fraumeni syndrome

182

(1)

Familial adenomatous polyposis

182

(2)

Inherited gene mutations that increase susceptibility to cancer

184

(8)

General information

184

(1)

Familial breast/ovarian cancer

184

(5)

Colorectal cancer

189

(3)

Clinical practice

192

(1)

The family cancer clinic

192

(1)

Psychological aspects of familial cancer risk

192

(1)

Conclusion

193

(6)

Study questions

193

(1)

References

194

(3)

Further resources

197

(2)

Chromosomal and non-traditional patterns of inheritance

Introduction

199

(1)

Micro-deletion syndromes

199

(4)

22q11 deletion syndrome

199

(1)

Fluorescent in situ hybridization

200

(1)

Recurrence risks

201

(1)

Other microdeletion syndromes

202

(1)

Chromosome abnormalities

203

(9)

Down syndrome

203

(3)

Genomic imprinting

206

(1)

Prader--Willi syndrome

206

(1)

Uniparental disomy

207

(1)

Angelman syndrome

208

(4)

Mitochondrial inheritance

212

(2)

Genetic counseling in mitochondrial disorders

214

(1)

Conclusion

214

(3)

Study questions

215

(1)

References

215

(1)

Further resources

216

(1)

Multifactorial inheritance and common diseases

Introduction

217

(1)

Neural tube defects

218

(3)

Neural tube defects and counseling

218

(3)

MTHFR gene and neural tube defects

221

(1)

Genetics of common diseases

221

(6)

Folate metabolism and colon cancer

222

(1)

Alzheimer disease

223

(1)

Cardiovascular disease

224

(1)

Familial hypercholesterolemia

225

(1)

Asthma

226

(1)

Predisposition genes

227

(1)

Pharmacogenetics

227

(1)

Conclusion

228

(3)

Study questions

228

(1)

References

229

(1)

Further resources

230

(1)

Appendix I Use of genetics knowledge by advanced-level practitioners

Oncology and cancer services

231

(1)

Role of the practitioner

231

(1)

Case examples

231

(1)

Specific areas of genetic knowledge necessary for competent practice in cancer settings

232

(1)

Pediatric care

232

(4)

Role of nurses in pediatric care

232

(1)

Case examples

233

(1)

Specific areas of genetic knowledge necessary for competent practice in pediatric settings

234

(1)

Midwifery and obstetrics

234

(1)

Clinical applications of genetic knowledge

235

(1)

Specific areas of genetic knowledge necessary for competent practice in a midwifery or obstetric setting

235

(1)

Counselors for hematological conditions (hemoglobinopathies and inherited bleeding disorders)

236

(3)

The role of the hemoglobinopathy counselor

236

(1)

Clinical applications of genetic knowledge in hematological settings

236

(1)

Areas of genetic knowledge necessary for competent practice

237

(2)

Answers/possible responses to study questions

239

(14)

Web-based resources for genetic healthcare professionals

253

(8)

Glossary of terms

261

(10)

Index

271

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Applied Genetics in Healthcare

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Table of Contents

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