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 (ISBN-13: 9780511282751)

Genetics, Health Care and Public Policy

Cambridge University Press
9780521529075 - Genetics, Health Care and Public Policy - An Introduction to Public Health Genetics - by Alison Stewart, Philippa Brice, Hilary Burton, Paul Pharoah, Simon Sanderson and Ron Zimmern
Table of Contents


Forewordpage xiii
The definition of public health genetics1
Genetic and environmental factors as determinants of health3
Genetic disease, complex disease and the combined effects of genetic and environmental factors6
The emergence and development of public health genetics9
Advances in epidemiology and its application to public health9
The rise of genetic epidemiology9
The growth of genetic science10
The impetus for public health genetics11
Community genetics13
Attitudes to public health genetics14
An international public health genetics network: the Bellagio initiative15
About this book18
Further reading and resources20
Principles of public health20
The emergence of public health genetics20
The human genome project and ‘genomic medicine’20
Community genetics21
Current developments in public health genetics22
Genomics and global health22
2Genetic science and technology23
Basic molecular genetics23
Genes and the genome25
The ‘central dogma’: DNA makes RNA makes protein26
Gene structure and expression in more detail27
The complexity of the genetic programme28
Genetic variation: mutation and polymorphism31
Cell division and the maintenance of the genome33
Meiosis and recombination: the formation of sex cells34
Inheritance patterns35
Genes and disease37
Mendelian (‘single-gene’) diseases38
Mitochondrial disorders39
Chromosomal disorders40
Diseases caused by disorders in epigenetic mechanisms41
Mendelian subsets of common diseases42
Multifactorial disease43
Some complexities of the relationship between genes and disease46
Inherited and new mutations46
Genetic heterogeneity47
Variable expressivity47
Genetic technology48
Cutting and joining pieces of DNA48
Separating pieces of DNA in a mixture48
Detecting specific sequences: hybridisation48
Fluorescent in situ hybridisation (FISH)49
DNA cloning and clone libraries50
The polymerase chain reaction51
DNA sequencing51
DNA microarrays53
Markers and maps53
The human genome project55
Mapping human genetic variation: SNPs and haplotypes56
The post-genome challenge57
Identifying genes and studying gene function57
Comparative genomics59
Systems biology60
Epidemiological and biomedical informatics60
Further reading and resources61
Basic genetics61
Genes and disease61
Genomics and the human genome project63
The post-genome challenge63
3Fundamentals of genetic epidemiology65
An overview of classical epidemiology65
Causation and association65
Measuring the occurrence of illness67
Measuring associations in analytical epidemiology69
Cohort and case–control studies70
Genetic epidemiology and human disease74
Genetic variation and disease susceptibility74
Clustering in families and the familial relative risk75
Using heritability to assess genetic and environmental contributions76
Determining the genetic model of inheritance: segregation analysis79
Identifying specific genetic determinants related to disease susceptibility80
Linkage and linkage analysis80
Association analysis84
Evaluating the characteristics of disease-susceptibility genetic variants96
Identifying whether gene variants are pathogenic variants97
Estimating disease allele frequency97
Estimating penetrance98
Gene–gene interactions99
Gene–environment interactions100
Study designs for gene–environment interactions100
Gene–environment interactions and Mendelian randomisation101
Further reading and resources103
Classical epidemiology103
Genetic epidemiology103
Systematic review and meta-analysis105
4Genetics in medicine106
Genetic testing106
Diagnostic genetic testing107
Carrier testing108
Predictive genetic testing108
Testing for genetic susceptibility109
Population screening110
Methods of genetic testing111
Cytogenetic testing112
DNA testing112
Techniques for finding mutations114
Evaluation of genetic tests121
Challenges for evaluating genetic tests121
Genetics and disease prevention123
Genotypic and phenotypic prevention123
Identifying individuals at high genetic risk: family tracing124
Susceptibility genetics125
Family history as a tool in prevention of common disease126
Nutrigenetics and nutrigenomics129
Genetics and disease management130
Molecular genetic profiling in diagnosis and disease management137
Gene therapy138
Stem cell therapy144
Genetics and infectious disease147
Further reading and resources151
Genetic testing and screening151
Genetics and disease prevention151
Genetics and disease management153
5Genetics in health services156
Organisation of clinical genetics services in the UK156
The multidisciplinary clinical team157
The clinical genetics consultation158
Cancer genetics161
Cardiac genetics162
Genetic registers163
Laboratory genetics services164
Some services closely associated with genetics centres167
Inherited metabolic disease167
Inherited bleeding disorders169
The role of voluntary organisations170
Commissioning of genetics services171
Population screening programmes for genetic conditions172
Antenatal Down syndrome screening173
Haemoglobinopathy screening174
Neonatal cystic fibrosis screening174
Neonatal screening for inborn errors of metabolism175
Population carrier screening in specific communities175
Genetics in mainstream medicine176
Genetics in other specialist services: the multidisciplinary approach176
Development of service models for cancer genetics177
National Service Frameworks178
Genetics in primary care179
The future of genetics in clinical services181
Further reading and resources182
Organisation and development of genetic services182
Voluntary organisations183
Commissioning of genetics services183
Population screening183
Genetics in mainstream medicine184
6Ethical, legal and social implications of genetics186
Genetic determinism and reductionism186
The legacy of eugenics189
Genetics and reproductive choice191
Antenatal genetic testing and screening191
Limits to reproductive choice?192
Genetics and assisted reproduction194
Embryo research and embryonic stem cells195
Genetic information197
Genetic exceptionalism198
Genetic databases199
Genetic discrimination206
Genetic information and insurance206
Genetic information and employment208
Justice and the ‘genetic underclass’210
Genetics and racial discrimination211
Ethical and legal aspects of clinical genetics213
Confidentiality versus the duty to warn213
The right not to know214
Consent to genetic testing215
Public perceptions of genetics218
Further reading and resources219
Genetic reductionism, geneticisation and eugenics220
Genetics and reproductive choice220
Embryo research and embryonic stem cells221
Genetic information221
Genetic discrimination222
Ethical and legal aspects of clinical genetics223
Public perceptions of genetics223
7Policy implications225
How government policy for genetics is developed in the UK226
The advisory and regulatory system for genetics227
The international context for genetics policy229
Policy for key issues in genetics233
Genetics in reproductive decision-making233
Consent to genetic testing and analysis238
Privacy and confidentiality of genetic information240
Protection against unfair discrimination247
Regulation of gene-based and cellular therapies259
Clinical trials and research governance264
General governance of clinical research265
Intellectual property and patents265
General policy issues269
The scientific and clinical research base269
Public health policy273
The role of the commercial sector274
Financial considerations and health economics276
Education and training278
The public280
Concluding remarks281
Further reading and resources282
Policy development for genetics in the UK282
The international context284
Genetics in reproductive decision-making284
Assisted reproduction284
Consent to genetic testing and analysis285
Protection of medical and genetic information285
Protection against unfair discrimination286
Regulation of genetic tests286
Pharmacogenetics: policy issues286
Advanced therapies287
Clinical trials and research governance288
Intellectual property and patents288
General policy issues288
Scientific and clinical research policy, and relationships between the public and private sectors288
Health economics289
Education and training289
Public involvement289
Challenges for public health genetics290
Further reading291
Books, reports and journal papers291
Websites and web pages316

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