Genetics, Health Care and Public Policy: An Introduction to Public Health Genetics

, by Alison Stewart , Philippa Brice , Hilary Burton , Paul Pharoah , Simon Sanderson , Ron Zimmern

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ISBN: 9780521529075 | 0521529077
Cover: Paperback
Copyright: 6/11/2007

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Genetics, Health Care and Public Policy is an introduction to the new discipline of public health genetics. It brings together the insights of genetic and molecular science as a means of protecting and improving the health of the population. This book sets out the basic principles of public health genetics for a wide audience of readers from those providing health care to those involved in establishing health policy. It provides one-stop introductory coverage of this rapidly developing and multidisciplinary field.

Foreword	p. xiii
Acknowledgements	p. xiv
Introduction	p. 1
The definition of public health genetics	p. 1
Genetic and environmental factors as determinants of health	p. 3
Genetic disease, complex disease and the combined effects of genetic and environmental factors	p. 6
The emergence and development of public health genetics	p. 9
Advances in epidemiology and its application to public health	p. 9
The rise of genetic epidemiology	p. 9
The growth of genetic science	p. 10
The impetus for public health genetics	p. 11
Community genetics	p. 13
Attitudes to public health genetics	p. 14
An international public health genetics network: the Bellagio initiative	p. 15
About this book	p. 18
Further reading and resources	p. 20
Principles of public health	p. 20
The emergence of public health genetics	p. 20
The human genome project and 'genomic medicine'	p. 20
Community genetics	p. 21
Current developments in public health genetics	p. 22
Genomics and global health	p. 22
Genetic science and technology	p. 23
Basic molecular genetics	p. 23
Genes and the genome	p. 25
Chromosomes	p. 25
The 'central dogma': DNA makes RNA makes protein	p. 26
Gene structure and expression in more detail	p. 27
The complexity of the genetic programme	p. 28
Genetic variation: mutation and polymorphism	p. 31
Cell division and the maintenance of the genome	p. 33
Meiosis and recombination: the formation of sex cells	p. 34
Inheritance patterns	p. 35
Genes and disease	p. 37
Mendelian ('single-gene') diseases	p. 38
Mitochondrial disorders	p. 39
Chromosomal disorders	p. 40
Diseases caused by disorders in epigenetic mechanisms	p. 41
Mendelian subsets of common diseases	p. 42
Multifactorial disease	p. 43
Cancer	p. 44
Some complexities of the relationship between genes and disease	p. 46
Penetrance	p. 46
Inherited and new mutations	p. 46
Genetic heterogeneity	p. 47
Variable expressivity	p. 47
Genetic technology	p. 48
Cutting and joining pieces of DNA	p. 48
Separating pieces of DNA in a mixture	p. 48
Detecting specific sequences: hybridisation	p. 48
Fluorescent in situ hybridisation (FISH)	p. 49
DNA cloning and clone libraries	p. 50
The polymerase chain reaction	p. 51
DNA sequencing	p. 51
DNA microarrays	p. 53
Markers and maps	p. 53
The human genome project	p. 55
Mapping human genetic variation: SNPs and haplotypes	p. 56
The post-genome challenge	p. 57
Identifying genes and studying gene function	p. 57
Proteomics	p. 57
Comparative genomics	p. 59
Bioinformatics	p. 59
Systems biology	p. 60
Epidemiological and biomedical informatics	p. 60
Further reading and resources	p. 61
Basic genetics	p. 61
Genes and disease	p. 61
Genomics and the human genome project	p. 63
The post-genome challenge	p. 63
Fundamentals of genetic epidemiology	p. 65
An overview of classical epidemiology	p. 65
Causation and association	p. 65
Measuring the occurrence of illness	p. 67
Measuring associations in analytical epidemiology	p. 69
Cohort and case-control studies	p. 70
Interaction	p. 73
Genetic epidemiology and human disease	p. 74
Genetic variation and disease susceptibility	p. 74
Clustering in families and the familial relative risk	p. 75
Using heritability to assess genetic and environmental contributions	p. 76
Determining the genetic model of inheritance: segregation analysis	p. 79
Identifying specific genetic determinants related to disease susceptibility	p. 80
Linkage and linkage analysis	p. 80
Association analysis	p. 84
Evaluating the characteristics of disease-susceptibility genetic variants	p. 96
Identifying whether gene variants are pathogenic variants	p. 97
Estimating disease allele frequency	p. 97
Estimating penetrance	p. 98
Gene-gene interactions	p. 99
Gene-environment interactions	p. 100
Study designs for gene-environment interactions	p. 100
Gene-environment interactions and Mendelian randomisation	p. 101
Further reading and resources	p. 103
Classical epidemiology	p. 103
Genetic epidemiology	p. 103
Systematic review and meta-analysis	p. 105
Genetics in medicine	p. 106
Genetic testing	p. 106
Diagnostic genetic testing	p. 107
Carrier testing	p. 108
Predictive genetic testing	p. 108
Testing for genetic susceptibility	p. 109
Population screening	p. 110
Methods of genetic testing	p. 111
Cytogenetic testing	p. 112
DNA testing	p. 112
Techniques for finding mutations	p. 114
Evaluation of genetic tests	p. 121
Challenges for evaluating genetic tests	p. 121
Genetics and disease prevention	p. 123
Genotypic and phenotypic prevention	p. 123
Identifying individuals at high genetic risk: family tracing	p. 124
Susceptibility genetics	p. 125
Family history as a tool in prevention of common disease	p. 126
Ecogenetics	p. 127
Nutrigenetics and nutrigenomics	p. 129
Genetics and disease management	p. 130
Pharmacogenetics	p. 130
Molecular genetic profiling in diagnosis and disease management	p. 137
Gene therapy	p. 138
Stem cell therapy	p. 144
Genetics and infectious disease	p. 147
Further reading and resources	p. 151
Genetic testing and screening	p. 151
Genetics and disease prevention	p. 151
Genetics and disease management	p. 153
Genetics in health services	p. 156
Organisation of clinical genetics services in the UK	p. 156
The multidisciplinary clinical team	p. 157
The clinical genetics consultation	p. 158
Cancer genetics	p. 161
Cardiac genetics	p. 162
Neurogenetics	p. 163
Genetic registers	p. 163
Laboratory genetics services	p. 164
Some services closely associated with genetics centres	p. 167
Inherited metabolic disease	p. 167
Haemoglobinopathies	p. 168
Inherited bleeding disorders	p. 169
The role of voluntary organisations	p. 170
Commissioning of genetics services	p. 171
Population screening programmes for genetic conditions	p. 172
Antenatal Down syndrome screening	p. 173
Haemoglobinopathy screening	p. 174
Neonatal cystic fibrosis screening	p. 174
Neonatal screening for inborn errors of metabolism	p. 175
Population carrier screening in specific communities	p. 175
Genetics in mainstream medicine	p. 176
Genetics in other specialist services: the multidisciplinary approach	p. 176
Development of service models for cancer genetics	p. 177
National Service Frameworks	p. 178
Genetics in primary care	p. 179
The future of genetics in clinical services	p. 181
Further reading and resources	p. 182
Organisation and development of genetic services	p. 182
Voluntary organisations	p. 183
Commissioning of genetics services	p. 183
Population screening	p. 183
Genetics in mainstream medicine	p. 184
Ethical, legal and social implications of genetics	p. 186
Genetic determinism and reductionism	p. 186
Geneticisation	p. 188
The legacy of eugenics	p. 189
Genetics and reproductive choice	p. 191
Antenatal genetic testing and screening	p. 191
Limits to reproductive choice?	p. 192
Genetics and assisted reproduction	p. 194
Embryo research and embryonic stem cells	p. 195
Genetic information	p. 197
Genetic exceptionalism	p. 198
Genetic databases	p. 199
Genetic discrimination	p. 206
Genetic information and insurance	p. 206
Genetic information and employment	p. 208
Justice and the 'genetic underclass'	p. 210
Genetics and racial discrimination	p. 211
Ethical and legal aspects of clinical genetics	p. 213
Confidentiality versus the duty to warn	p. 213
The right not to know	p. 214
Consent to genetic testing	p. 215
Public perceptions of genetics	p. 218
Further reading and resources	p. 219
Genetic reductionism, geneticisation and eugenics	p. 220
Genetics and reproductive choice	p. 220
Embryo research and embryonic stem cells	p. 221
Genetic information	p. 221
Genetic discrimination	p. 222
Ethical and legal aspects of clinical genetics	p. 223
Public perceptions of genetics	p. 223
Policy implications	p. 225
How government policy for genetics is developed in the UK	p. 226
The advisory and regulatory system for genetics	p. 227
The international context for genetics policy	p. 229
Policy for key issues in genetics	p. 233
Genetics in reproductive decision-making	p. 233
Consent to genetic testing and analysis	p. 238
Privacy and confidentiality of genetic information	p. 240
Protection against unfair discrimination	p. 247
Pharmacogenetics	p. 256
Regulation of gene-based and cellular therapies	p. 259
Clinical trials and research governance	p. 264
General governance of clinical research	p. 265
Intellectual property and patents	p. 265
General policy issues	p. 269
The scientific and clinical research base	p. 269
Public health policy	p. 273
The role of the commercial sector	p. 274
Financial considerations and health economics	p. 276
Education and training	p. 278
The public	p. 280
Concluding remarks	p. 281
Further reading and resources	p. 282
Policy development for genetics in the UK	p. 282
The international context	p. 284
Genetics in reproductive decision-making	p. 284
Assisted reproduction	p. 284
Consent to genetic testing and analysis	p. 285
Protection of medical and genetic information	p. 285
Protection against unfair discrimination	p. 286
Regulation of genetic tests	p. 286
Pharmacogenetics: policy issues	p. 286
Advanced therapies	p. 287
Clinical trials and research governance	p. 288
Intellectual property and patents	p. 288
General policy issues	p. 288
Scientific and clinical research policy, and relationships between the public and private sectors	p. 288
Health economics	p. 289
Education and training	p. 289
Public involvement	p. 289
Challenges for public health genetics	p. 290
Further reading	p. 291
Books, reports and journal papers	p. 291
Websites and web pages	p. 316
Index	p. 323
Table of Contents provided by Ingram. All Rights Reserved.

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Genetics, Health Care and Public Policy: An Introduction to Public Health Genetics

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Genetics, Health Care and Public Policy: An Introduction to Public Health Genetics

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Author Biography

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