Genetics and Primary Care: An Introductory Guide

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

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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

Forewordp. vii
Preface and acknowledgementsp. ix
About the authorsp. x
List of abbreviationsp. xi
Basic concepts in geneticsp. 1
A historical overviewp. 1
Basic terminologyp. 1
The Human Genome Projectp. 5
Family history skills and inheritancep. 6
Genetics and ethics: a bird's-eye viewp. 12
Genetic epidemiology and primary carep. 13
Risk awareness and communicationp. 14
Principles of genetic testingp. 15
Family issuesp. 16
Summaryp. 17
Raising genetic awarenessp. 19
Introductionp. 19
Drivers for changep. 20
The relationship between the specialist genetics unit and primary carep. 24
International and national: the importance of diversitiesp. 25
Conclusionp. 28
Genetics and reproductionp. 31
Introductionp. 31
Screening programmes in the UKp. 31
The role of the Human Fertilisation and Embryology Authorityp. 39
Pre-implantation genetic diagnosisp. 40
Ethical issues in reproductionp. 41
Summaryp. 45
Exemplar genetic conditionsp. 49
Introductionp. 49
Autosomal dominant conditionsp. 49
Autosomal recessive conditionsp. 54
X-linked conditionsp. 56
Chromosomal conditionsp. 58
Conditions that have many causesp. 60
Risk assessment and consequencesp. 64
Summaryp. 65
Cancer geneticsp. 67
Introductionp. 67
Family history and the role of primary carep. 67
Breast and ovarian cancerp. 68
Colorectal cancerp. 75
Summaryp. 80
Ethical dilemmas and legal cases in primary care geneticsp. 81
Introductionp. 81
Confidentiality: the moral structurep. 81
Designed babies and family responsibilitiesp. 86
The problem of personal insurancep. 89
Summaryp. 91
Genetics, genomics and societyp. 95
Introductionp. 95
Genetics and societyp. 95
Pharmacogeneticsp. 98
Genetics and free willp. 100
Future trends and developmentsp. 102
Resources for the primary health care professionalp. 107
Introductionp. 107
Genetic 'interest' groupsp. 107
Patient support groupsp. 110
European and worldwide resourcesp. 116
Further readingp. 117
Glossary of termsp. 121
Indexp. 127
Table of Contents provided by Ingram. All Rights Reserved.

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