Genetics in Practice (eBook)

A Clinical Approach for Healthcare Practitioners

Jo Haydon (Herausgeber)

eBook Download: PDF

2007
John Wiley & Sons (Verlag)
978-0-470-72525-2 (ISBN)

Infos

Nurses are increasingly being asked to provide information when a genetic diagnosis is made, whether to the individual patient or to members of his or her family. This book provides a comprehensive introduction to present day genetic services, to help professionals feel more confident when dealing with queries or advising where to go for further information.

Comprehensive case studies are used to explain the various models of inheritance and explore the possibilities for families, following genetic diagnosis. Family history-taking, risk assessment, basic biology of chromosomes and genes, and laboratory techniques are all described. Issues of ethnicity and ethics are addressed. The book also discusses the development of the role of the genetic nurse counselor.

Jo Haydon, Genetic Associate, Birmingham Women's Hospital, UK

Inhalt

Genetics in Practice 3
Contents 7
List of Contributors 11
Preface 13
Introduction 15
1 The Scientific and Clinical Discoveries That are Used to Provide Current Patient Care 17
A Family With Breast Cancer 17
How Can We Record Details of Family History in Pictorial Form? 19
Do Particular Patterns of Affected People Suggest that a Condition might be Inherited? 19
Explaining Patterns of Inheritance: The Contribution of Mendel 20
How does One Work Out the Probability of a Person being Affected or a Carrier? 23
How are Genetic Factors Transferred from Generation to Generation? 24
How do We Know that DNA is the Chemical Which Carries Hereditary Instructions/Genetic Information? 25
How Can Only Four Letters Make a Human? 26
How Does DNA Copy Itself to Pass Itself On? 26
Why do We Need to Handle and Copy DNA in the Laboratory? 26
How is the Location of a Gene Found? 27
How Can We Identify Changes in a Gene? 28
Reading the DNA Sequence 28
How do We Know that Changes in a Gene are Responsible for a Genetic Condition? 29
How are Genetics Information and Services Provided for Patients? 29
2 The Family History 31
Guidelines for Taking a Family History and Drawing a Pedigree 32
Interpretation of Information 38
Potential Problems to be Aware of when Recording the Pedigree 42
3 Basic Biology 45
Cell Differentiation 46
Chromosomes 46
Cell Division: Mitosis and Meiosis 49
Chromosomal Abnormalities 52
DNA: Deoxyribonucleic Acid 58
Mitochondria 63
4 Laboratory Techniques 65
Cytogenetics 65
Molecular Genetics 71
Metabolic Tests 79
5 Risk Perception and Options Available 81
Factors Affecting Risk Perception 83
Tests Available for Adults 87
Pregnancy Options 91
Case Study: Mr and Mrs Evans’ Experience of Prenatal Diagnosis and Termination of Pregnancy 97
Testing Children 98
6 Chromosome Disorders 101
What is a Syndrome? 102
Numerical Chromosome Abnormalities 102
Structural Chromosome Abnormalities 107
7 Autosomal Dominant Disorders: 50% Risk to Offspring 121
Common Autosomal Dominant Conditions 125
Case Studies 125
8 Autosomal Recessive Disorders: Unaffected Parents with 25% Risk to Offspring 143
Common Autosomal Recessive Conditions 145
Estimating Risk 146
Case Studies 148
9 X-Linked Disorders: Carrier Mothers, Affected Sons 157
Common X-Linked Recessive Conditions 158
Common Questions 159
Case Studies 164
Other Sex-Linked Conditions 174
10 Multifactorial Inheritance: Interaction of Genes and Environment 177
Common Multifactorial Conditions 181
Empiric Risks 182
Case Studies 183
11 Mitochondrial Disorders: Inherited from Mother by Males and Females 191
Common Mitochondrial Conditions 192
Method of Inheritance 192
Case Studies 193
12 Cancer Genetics 199
Epidemiology 199
Aetiology 200
Risk Factors 200
Development of Cancer: The Biological Process 201
Assessment of Families With a Cancer History 202
Breast/Ovarian Cancer Families 209
Colorectal Cancer Families 214
13 Ethnicity 221
Overview of Cultural Differences 221
Incidence of Genetic Disorders among Different Ethnic Groups 228
Case Studies 228
14 Ethical Issues 237
Professional/Patient Relationships 237
Ethical Theory and Implications for Genetics 238
Ethical Dilemmas in Genetic Practice 244
Genetics and Society 250
15 Professional Development 255
Genetic Counselling 255
Association of Genetic Nurses and Counsellors (AGNC) 256
Implications for Other Health Professionals 262
16 Here and Now: Integrating Current Possibilities into Patient Care 267
Where can Genetics Contribute to Patient Care Pathways? 267
Issues for Future Practice 273
Glossary 278
Useful Websites 283
Index 285

Rezensionen

"This useful and relatively brief volume clearly sets out to
inform, guide and trouble-shoot genetic services in current UK
health-care ... .A must for all working in specialities where
genetic issues are relevant." (Journal of Community Nursing,
January 2009)

"Health care professionals and especially those studying for a
career in genetics will find this book a welcome addition to
available texts." (Journal of Tropical Pediactrics, December
2008)

Produkt-Details

• Erscheint lt. Verlag: 22.10.2007
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Gesundheitswesen
• Themenwelt: Medizin / Pharmazie ► Pflege
• Themenwelt: Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
• Schlagworte: Advances • Approach • Clinical • Continuing • disorder • enable • Genetic • Genetics • Healthcare • Impact • Increasingly • Individual • Krankenpflege • mystique • nursing • Nursing Special Topics • Potential • Practice • Professionals • Science • Spezialthemen Krankenpflege • Subject • surrounding
• ISBN-10: 0-470-72525-7 / 0470725257
• ISBN-13: 978-0-470-72525-2 / 9780470725252