Genetics in Practice A Clinical Approach for Healthcare Practitioners

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ISBN: 9781861564641 | 1861564643
Cover: Paperback
Copyright: 12/17/2007

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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.

List of Contributors	p. ix
Preface	p. xi
Introduction	p. xiii
The Scientific and Clinical Discoveries That are Used to Provide Current Patient Care	p. 1
A Family With Breast Cancer	p. 1
How Can We Record Details of Family History in Pictorial Form?	p. 3
Do Particular Patterns of Affected People Suggest that a Condition might be Inherited?	p. 3
Explaining Patterns of Inheritance: The Contribution of Mendel	p. 4
How does One Work Out the Probability of a Person being Affected or a Carrier?	p. 7
How are Genetic Factors Transferred from Generation to Generation?	p. 8
How do We Know that DNA is the Chemical Which Carries Hereditary Instructions/Genetic Information?	p. 9
How Can Only Four Letters Make a Human?	p. 10
How Does DNA Copy Itself to Pass Itself On?	p. 10
Why do We Need to Handle and Copy DNA in the Laboratory?	p. 10
How is the Location of a Gene Found?	p. 11
How Can We Identify Changes in a Gene?	p. 12
Reading the DNA Sequence	p. 12
How do We Know that Changes in a Gene are Responsible for a Genetic Condition?	p. 13
How are Genetics Information and Services Provided for Patients?	p. 13
The Family History	p. 15
Guidelines for Taking a Family History and Drawing a Pedigree	p. 16
Interpretation of Information	p. 22
Potential Problems to be Aware of when Recording the Pedigree	p. 26
Basic Biology	p. 29
Cell Differentiation	p. 30
Chromosomes	p. 30
Cell Division: Mitosis and Meiosis	p. 33
Chromosomal Abnormalities	p. 36
DNA: Deoxyribonucleic Acid	p. 42
Mitochondria	p. 47
Laboratory Techniques	p. 49
Cytogenetics	p. 49
Molecular Genetics	p. 55
Metabolic Tests	p. 63
Risk Perception and Options Available	p. 65
Factors Affecting Risk Perception	p. 67
Tests Available for Adults	p. 71
Pregnancy Options	p. 75
Case Study: Mr and Mrs Evans' Experience of Prenatal Diagnosis and Termination of Pregnancy	p. 81
Testing Children	p. 82
Chromosome Disorders	p. 85
What is a Syndrome?	p. 86
Numerical Chromosome Abnormalities	p. 86
Structural Chromosome Abnormalities	p. 91
Autosomal Dominant Disorders: 50% Risk to Offspring	p. 105
Common Autosomal Dominant Conditions	p. 109
Case Studies	p. 109
Autosomal Recessive Disorders: Unaffected Parents with 25% Risk to Offspring	p. 127
Common Autosomal Recessive Conditions	p. 129
Estimating Risk	p. 130
Case Studies	p. 132
X-Linked Disorders: Carrier Mothers, Affected Sons	p. 141
Common X-Linked Recessive Conditions	p. 142
Common Questions	p. 143
Case Studies	p. 148
Other Sex-Linked Conditions	p. 158
Multifactorial Inheritance: Interaction of Genes and Environment	p. 161
Common Multifactorial Conditions	p. 165
Empiric Risks	p. 166
Case Studies	p. 167
Mitochondrial Disorders: Inherited from Mother by Males and Females	p. 175
Common Mitochondrial Conditions	p. 176
Method of Inheritance	p. 176
Case Studies	p. 177
Cancer Genetics	p. 183
Epidemiology	p. 183
Aetiology	p. 184
Risk Factors	p. 184
Development of Cancer: The Biological Process	p. 185
Assessment of Families With a Cancer History	p. 186
Breast/Ovarian Cancel Families	p. 193
Colorectal Cancer Families	p. 198
Ethnicity	p. 205
Overview of Cultural Differences	p. 205
Incidence of Genetic Disorders among Different Ethnic Groups	p. 212
Case Studies	p. 212
Ethical Issues	p. 221
Professional/Patient Relationships	p. 221
Ethical Theory and Implications for Genetics	p. 222
Ethical Dilemmas in Genetic Practice	p. 228
Genetics and Society	p. 234
Professional Development	p. 239
Genetic Counselling	p. 239
Association of Genetic Nurses and Counsellors (AGNC)	p. 240
Implications for Other Health Professionals	p. 246
Here and Now: Integrating Current Possibilities into Patient Care	p. 251
Where can Genetics Contribute to Patient Care Pathways?	p. 251
Issues for Future Practice	p. 257
Glossary	p. 262
Usefull Websites	p. 267
Index	p. 269
Table of Contents provided by Ingram. All Rights Reserved.

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Genetics in Practice A Clinical Approach for Healthcare Practitioners

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Genetics in Practice A Clinical Approach for Healthcare Practitioners

Summary

Author Biography

Table of Contents

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