Genetics and Primary Care: An Introductory Guide

by Rafi; Imran

• ISBN13: 9781846192074
• ISBN10: 1846192072
• Edition: 1st
• Format: Nonspecific Binding
• Copyright: 2007-06-30
• Publisher: CRC Press

Summary

Primary care professionals are increasingly faced with challenges in dealing with patients who have been affected by a genetic disorder, or whose family history is of concern. A basic understanding of clinical genetics and the role of the genetics centres leads to greater confidence in the management of these patients.

Table of Contents

Foreword	p. vii
Preface and acknowledgements	p. ix
About the authors	p. x
List of abbreviations	p. xi
Basic concepts in genetics	p. 1
A historical overview	p. 1
Basic terminology	p. 1
The Human Genome Project	p. 5
Family history skills and inheritance	p. 6
Genetics and ethics: a bird's-eye view	p. 12
Genetic epidemiology and primary care	p. 13
Risk awareness and communication	p. 14
Principles of genetic testing	p. 15
Family issues	p. 16
Summary	p. 17
Raising genetic awareness	p. 19
Introduction	p. 19
Drivers for change	p. 20
The relationship between the specialist genetics unit and primary care	p. 24
International and national: the importance of diversities	p. 25
Conclusion	p. 28
Genetics and reproduction	p. 31
Introduction	p. 31
Screening programmes in the UK	p. 31
The role of the Human Fertilisation and Embryology Authority	p. 39
Pre-implantation genetic diagnosis	p. 40
Ethical issues in reproduction	p. 41
Summary	p. 45
Exemplar genetic conditions	p. 49
Introduction	p. 49
Autosomal dominant conditions	p. 49
Autosomal recessive conditions	p. 54
X-linked conditions	p. 56
Chromosomal conditions	p. 58
Conditions that have many causes	p. 60
Risk assessment and consequences	p. 64
Summary	p. 65
Cancer genetics	p. 67
Introduction	p. 67
Family history and the role of primary care	p. 67
Breast and ovarian cancer	p. 68
Colorectal cancer	p. 75
Summary	p. 80
Ethical dilemmas and legal cases in primary care genetics	p. 81
Introduction	p. 81
Confidentiality: the moral structure	p. 81
Designed babies and family responsibilities	p. 86
The problem of personal insurance	p. 89
Summary	p. 91
Genetics, genomics and society	p. 95
Introduction	p. 95
Genetics and society	p. 95
Pharmacogenetics	p. 98
Genetics and free will	p. 100
Future trends and developments	p. 102
Resources for the primary health care professional	p. 107
Introduction	p. 107
Genetic 'interest' groups	p. 107
Patient support groups	p. 110
European and worldwide resources	p. 116
Further reading	p. 117
Glossary of terms	p. 121
Index	p. 127
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