Chapter
Further reading and resources
Principles of public health
The emergence of public health genetics
The human genome project and ‘genomic medicine’
Current developments in public health genetics
Genomics and global health
2 Genetic science and technology
The ‘central dogma’: DNA makes RNA makes protein
Gene structure and expression in more detail
The complexity of the genetic programme
Genetic variation: mutation and polymorphism
Cell division and the maintenance of the genome
Meiosis and recombination: the formation of sex cells
Mendelian (‘single-gene’) diseases
Diseases caused by disorders in epigenetic mechanisms
Mendelian subsets of common diseases
Some complexities of the relationship between genes and disease
Inherited and new mutations
Cutting and joining pieces of DNA
Separating pieces of DNA in a mixture
Detecting specific sequences: hybridisation
Fluorescent in situ hybridisation (FISH)
DNA cloning and clone libraries
The polymerase chain reaction
Mapping human genetic variation: SNPs and haplotypes
The post-genome challenge
Identifying genes and studying gene function
Epidemiological and biomedical informatics
Further reading and resources
Genomics and the human genome project
The post-genome challenge
3 Fundamentals of genetic epidemiology
An overview of classical epidemiology
Causation and association
Measuring the occurrence of illness
Measuring associations in analytical epidemiology
Attributable fraction and population attributable fraction
Cohort and case–control studies
Genetic epidemiology and human disease
Genetic variation and disease susceptibility
Clustering in families and the familial relative risk
Using heritability to assess genetic and environmental contributions
Interpreting heritability
Determining the genetic model of inheritance: segregation analysis
Problems with segregation analysis
Identifying specific genetic determinants related to disease susceptibility
Linkage and linkage analysis
Model-based linkage analysis
Using linkage to find disease loci
Model-free linkage analysis
Interpreting statistically significant results from gene–disease association studies
Type I statistical error and false-positive results
Confounding in genetic association studies (population stratification)
Family-based association studies and the transmission disequilibrium test
Haplotype analysis in association studies
Genome-wide association and the candidate gene approach
The candidate gene approach
Defining the phenotype in association studies
Conclusion: linkage and association are complementary approaches
Systematic review and meta-analysis of genetic association studies
Evaluating the characteristics of disease-susceptibility genetic variants
Identifying whether gene variants are pathogenic variants
Estimating disease allele frequency
Gene–environment interactions
Study designs for gene–environment interactions
Gene–environment interactions and Mendelian randomisation
Further reading and resources
Systematic review and meta-analysis
Diagnostic genetic testing
Predictive genetic testing
Testing for genetic susceptibility
Methods of genetic testing
Techniques for finding mutations
Electrophoresis-based methods
Comparative genomic hybridisation
Denaturing high-performance liquid chromatography (DHPLC)
Evaluation of genetic tests
Challenges for evaluating genetic tests
Genetics and disease prevention
Genotypic and phenotypic prevention
Identifying individuals at high genetic risk: family tracing
Family history as a tool in prevention of common disease
Nutrigenetics and nutrigenomics
Genetics and disease management
Heritable pharmacogenetic variation
SNP profiling in pharmacogenetics
Problems and prospects for pharmacogenetics
Molecular genetic profiling in diagnosis and disease management
Gene therapy for single-gene disease
Cell nuclear transfer and ‘therapeutic cloning’
Genetics and infectious disease
Further reading and resources
Genetic testing and screening
Genetics and disease prevention
Genetics and disease management
5 Genetics in health services
Organisation of clinical genetics services in the UK
The multidisciplinary clinical team
The clinical genetics consultation
Laboratory genetics services
Some services closely associated with genetics centres
Inherited metabolic disease
Inherited bleeding disorders
The role of voluntary organisations
Commissioning of genetics services
Population screening programmes for genetic conditions
Antenatal Down syndrome screening
Haemoglobinopathy screening
Neonatal cystic fibrosis screening
Neonatal screening for inborn errors of metabolism
Population carrier screening in specific communities
Genetics in mainstream medicine
Genetics in other specialist services: the multidisciplinary approach
Development of service models for cancer genetics
National Service Frameworks
The future of genetics in clinical services
Further reading and resources
Organisation and development of genetic services
Commissioning of genetics services
Genetics in mainstream medicine
6 Ethical, legal and social implications of genetics
Genetic determinism and reductionism
Genetics and reproductive choice
Antenatal genetic testing and screening
Limits to reproductive choice?
Genetics and assisted reproduction
Embryo research and embryonic stem cells
Role of the commercial sector
Genetic information and insurance
Genetic information and employment
Justice and the ‘genetic underclass’
Genetics and racial discrimination
Ethical and legal aspects of clinical genetics
Confidentiality versus the duty to warn
Consent to genetic testing
Testing of adults lacking capacity to consent
Public perceptions of genetics
Further reading and resources
Genetic reductionism, geneticisation and eugenics
Genetics and reproductive choice
Genetics and assisted reproduction
Embryo research and embryonic stem cells
Ethical and legal aspects of clinical genetics
Public perceptions of genetics
How government policy for genetics is developed in the UK
The advisory and regulatory system for genetics
The international context for genetics policy
Policy for key issues in genetics
Genetics in reproductive decision-making
Antenatal genetic testing
Pre-implantation genetic diagnosis
Population screening programmes
Assisted reproduction technologies
Consent to genetic testing and analysis
The Human Tissue Act 2004
Research on samples from individuals who lack the capacity to consent
Privacy and confidentiality of genetic information
The legislative framework for the use of medical information in research
The interpretation of data protection law
Federal legislation in the US
Specific protection for genetic information
Genetic information and current data protection law
Protection against unfair discrimination
Regulating the availability of genetic tests
Advertising and over-the-counter tests
Regulatory mechanisms within healthcare services
Regulation of pharmacogenetic tests
Pharmacogenetics in drug development
Broader policy considerations
Regulation of gene-based and cellular therapies
Policy for embryonic stem cell research
Regulation of therapeutic cell- and tissue-based materials
Market authorisation of ‘advanced therapies’
Clinical trials and research governance
General governance of clinical research
Intellectual property and patents
The scientific and clinical research base
The role of the commercial sector
Financial considerations and health economics
Further reading and resources
Policy development for genetics in the UK
The international context
Genetics in reproductive decision-making
Consent to genetic testing and analysis
Protection of medical and genetic information
Protection against unfair discrimination
Regulation of genetic tests
Pharmacogenetics: policy issues
Clinical trials and research governance
Intellectual property and patents
Scientific and clinical research policy, and relationships between the public and private sectors
Challenges for public health genetics
Books, reports and journal papers
Genetics, Health Care and Public Policy
：An Introduction to Public Health Genetics
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