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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
Index


Index

Note: Page numbers in italics refer to figures and tables.


ABO blood group inheritance 36, 36

Abortion Act (1967, UK) 233–4

Academy of Medical Sciences 244

adoption studies, heritability 78–9

Adults with Incapacity (Scotland) Act (2000) 218

advanced therapies 259–62, 287–8

Advanced Therapy Medicinal Products 263–4

advertising, genetic testing 253–4

advisory system for genetics 227–9

alleles 33

   frequency 85, 86–7

   heterogeneity 47

   identical

      by descent 84

      by state 84

   sharing 83–4

allelic association see linkage disequilibrium

Alzheimer’s disease 43, 109

   APOE gene 109

American College of Medical Genetics, ethical guidelines 213

American Eugenics Society exhibit (1929) 190

anonymisation of data 241–3

antenatal screening 110, 173, 174, 191–2

   availability 191–2

   genetic testing policy 233–4

APOE gene 109

   nutrigenetics/nutrigenomics 129

   polymorphisms 251

applied research 17

ascertainment bias 79–80

Ashkenazi Jewish community 175–6, 211

assisted reproduction 194–5, 284–5

   protection from serious disease 237

   resources 221

   technologies 236–8

association 65–7

   absolute measures 70

   analysis and disease susceptibility 80, 84–96

   attributable fraction 70

   candidate genes 91–4

   case–control studies 70–1, 72–3, 85, 89

   confounding 89–90

   false-positive results 86–7

   family-based studies 90

   gene-disease studies 86–90

   genome-wide 91–4

   haplotype analysis 90–1

   infectious diseases 150

   large studies 240

   linkage analysis comparison 94

   linkage disequilibrium 87–9

   measurement 69–70

   meta-analysis of studies 94–6

   phenotype 93–4

   relative measures 69–70

   systematic review of studies 94–6

   transmission disequilibrium test 90

   Type I statistical error 86–7, 87

ataxias, neurological condition National Service Framework 179

attributable fraction 69, 70

autosomes 25

avian flu 148


Baraitser–Winter Neurogenetics Database 159

Bellagio initiative 15–17

beryllium sensitivity 125

best interests of person 218

bias 66

   ascertainment 79–80

   cohort studies 72

BiDil, racial discrimination 212

Biobank project (UK) 200

   commercial sector interest 205

   confidentiality 203–4

biobanking 200

   benefit sharing 205

   commercial sector interest 204–5

   feedback to participants 205–6

   large projects 240

biochemical genetics 166–7

   inherited metabolic diseases 167

bioinformatics 59–60

   resources 63–4

biological interaction 74

biomedical informatics 60–1

Bioscience Innovation and Growth Team (BIGT) 275

Bioscience Leadership Council 275

Bioscience Unit of DTI 226–7

biotechnology, commercial sector 274

bladder cancer, cigarette smoking and NAT genes 127

bleeding disorders, inherited 169–70

blood pressure and stroke risk 5

Bonferroni method 87

BRCA1 gene mutations

   allelic heterogeneity 47

   antenatal diagnosis 192

   consent to testing 215

   denaturing HPLC 120

   disease-association variants 98

   genetic testing 109, 113–14

   penetrance 46

   predictive testing 215

BRCA1 gene patent 267, 268

BRCA2 gene mutations

   allelic heterogeneity 47

   antenatal diagnosis 192

   consent to testing 215

   denaturing HPLC 120

   genetic testing 109

   predictive testing 215

BRCA2 gene patent 267, 268

breast cancer

   consent to testing 215

   gene penetrance 46

   genetic testing 109, 113–14

   HER2 gene profiling 137

   predictive testing 215

   prognostic test kits 138

   single gene subsets 161

   trastuzumab 137

Burlington North and Santa Fe Railway case 250


Caldicott Guardian 241, 242

canalisation 103

cancer 44, 44–6

   disease registers 161

   family history 161, 180–1

   gene therapy 142

   genetic alterations 44, 45

   genetics 161

   inheritance 44–5

   microarray profiling 137–8

   multifactorial disease 45

   polymorphisms 46

   preventive programmes 161

   primary care 180–1

   risk 161

   service model developments 177–8

   single gene subsets 161

candidate genes, identification 93

capillary gel electrophoresis 115

carcinogenesis 45

cardiac death, sudden 162, 178–9

cardiac genetics 162–3

cardiomyopathies 162

carrier screening 110

   children 217

carrier testing 108

   cystic fibrosis 114

   pre-conception 179

cascade testing see family tracing

case–control studies

   association 70–1, 72–3, 85, 89

   familial relative risk 76

   gene–environment interactions 100

   population stratification 89–90

case-only studies, gene–environment interactions 100–1

causation 65–7

CCR5 cell-surface receptor molecule, HIV infection resistance 149

cDNA libraries 51

cell division 33

cell nuclear transfer 147

cell-based materials, therapeutic 262–3

cellular therapy regulation 259–64

Centre for Public Health 274

CFTR gene mutations, allelic heterogeneity 47

Charcot–Marie–Tooth syndrome, neurological condition National Service Framework 179

chemical mismatch cleavage detection 116

children

   carrier status testing 217

   consent to genetic testing 217

   genetic testing 216–17

   National Service Framework 179

   rights in assisted reproduction situations 236

China Maternal and Infant Health Care Act 190–1

chromosomal disorders 37, 40, 187–8

   structural 40

chromosomes 25

   human genome project 55

   independent assortment 35

   meiosis 34–5

   mutations 32

   recombination 80–1

cigarette smoking

   maternal and Taq1 polymorphisms 100, 101

   NAT genes and bladder cancer 127

civil servants, competence in genetics 278–80

cleft lip/palate 43

clinical diagnosis 158–9

clinical geneticists 157

clinical genetics

   ethics 213–18, 223

   legal aspects 213–18, 223

   resources 223

clinical genetics services 156–67

   cancer 161

   cardiac genetics 162–3

   centres 168

   communication 160

   consultations 158–60

   developments 181–2

   genetic registers 163–4

   haemoglobinopathies 168–9

   inherited bleeding disorders 169–70

   inherited metabolic diseases 167–8

   laboratory services 164–7

   molecular genetics 164–5

   multidisciplinary clinical teams 157–8

   neurogenetics 163–4

   ongoing support 161

clinical medicine 14–15

Clinical Pathology Accreditation Co Ltd 253

clinical professionals 278

clinical research governance 265, 288–9

Clinical Research Network 271–2

clinical teams, multidisciplinary 157–8

clinical trials

   gene therapy 140, 265

   policy development 264–5, 288

clone libraries 50–1

cloning 50–1

   government policy 237

   opposition to 262

   positional 83

   reproductive 195, 237

   therapeutic 147, 237

   vectors 50–1

clustering, familial 75–6

codons 26–7

cohort studies 70–2

   familial relative risk 76

colorectal cancer, single gene subsets 161

commercial sector 274–6, 288–9

   benefit sharing 205

   biobank access 204–5

   genetic databases 204–5

common diseases, Mendelian subsets 42–3

common variant, common disease hypothesis 84

communication, clinical genetics 160

communities, population carrier screening 175–6

community genetics 13–14

   resources 21

comparative genomic hybridisation (CGH) 118–20

   array-based 166

   microarray 119

complex diseases 6–7

Comprehensive Care Centres for inherited bleeding disorders 169

confidentiality 213–14

   breaches 244

   common law duty 242

   genetic information 240–7

   genetics databases 203–4

   NHS Code 242

conformation-sensitive gel electrophoresis (CSGE) 115, 116

confounding 66

   association studies 89–90

   Mendelian randomisation 103

congenital disease 39

   multifactorial 43

congenital heart disease 162

consent

   adults lacking capacity 217–18, 239–40

   data protection 241, 243

   DNA testing 216

   genetic databases 200–3

   genetic testing 215–18, 238–40, 285

      children 217

   NHS IT program 243

Consolidated Laboratory Improvement Amendment, laboratory regulation 253

Contact a Family 171

control groups, case–control studies 73

coronary heart disease 43

   APOE4 gene polymorphism 251

   National Service Framework 178–9

Council of Europe 230–2

Council for International Organisations of Medical Sciences 232

cri du chat syndrome 40

crown use provisions 268

CYP2C9 gene variant 136

cystic fibrosis 38–9

   carrier testing 114

   congenital absence of vas deferens 189

   gene therapy 140–2

   laboratory services 164

   mutations 174

   penetrance 46

   prevalence 46

   screening 173, 174–5, 211–12

   testing of children 216–17

cytochrome P450 (CYP) gene mutations 132

   warfarin reaction 135, 136

cytogenetic testing 112–13, 166


data

   anonymisation 241–3

   family history 246–7

data controller 241

data protection

   consent 241, 243

   genetic information 246–7

   interpretation of law 243–4

Data Protection Act (1998, UK) 241–3

   interpretation 243–4

databases

   commercial sector interest 204–5

   confidentiality 203–4

   consent 200–3

   diagnostic 159

   disease-based 199–200

   feedback to participants 205–6

   forensic 200

   forensic use 204

   genetic information 199–206, 201, 240

   population 199–200

DECIPHER database 159

Department of Health (DoH) 226

   policy development 226

Department of Trade and Industry, policy development 226–7

determinism, genetic 186–9

diabetes mellitus 43

diagnosis

   clinical 158–9

   medical databases 159

   molecular genetic profiling 137–8

dietary change 129

disability

   legislation 210

   protection against discrimination 247

   reproductive choice limits 192–3

discrimination, genetic 206–12

   employment 249–50

   genetic information 206–8

   insurance 206–8, 248

   protection 247–56, 286

disease(s)

   cumulative incidence 67, 68

   epidemiological measures of frequency 68

   gene relationship 46–7

   genetic/environmental factor combined effects 7–9, 67

   incidence rate 68

   prevalence proportion 68–9

   resistance and genetic variation 149

   see also genetic diseases

disease loci, linkage analysis 83

disease management 130–51

   gene therapy 138–44

   infectious diseases 147–50

   molecular genetic profiling 137–8

   pharmacogenetics 130–6

   resources 153–5

   stem cell therapy 144–7

disease prevention 2, 4, 123–30

   ecogenetics 127–8

   family history 126–7

   family tracing 124–5

   genotypic 123–4

   high genetic risk 124–5

   nutrigenetics/nutrigenomics 129–30

   phenotypic 123–4

   public health genetics 8–9, 12

   resources 151–3

   susceptibility genetics 125–6

disease registers 161

disease susceptibility

   allele frequency estimation 97–8

   association analysis 80, 84–96

   gene variants 85

   genetic determinants 80–96

   genetic testing 109

   genetic variant characteristics 96–9

   genetic variation 74–80, 149

   linkage analysis 80–4

   penetrance estimation 98–9

   see also risk

disease-based databases 199–200

DNA 10, 23–8

   analysis and Human Tissue Act 215–16

   coding 27

   composition 24–5

   cutting 48

   decoding 29

   forensic databases 200

   genetic information 198

   genetic technology 48–55

   joining 48

   methylation 29

   non-coding 27

   PCR amplification 114

   polymerase chain reaction (PCR) 51

   replication 33

   separating 48

   sequencing 11, 51–3

      shotgun 55

   storage 25

   structure 24

DNA analysis, Human Tissue Act 238–9

DNA cloning 50–1

DNA ligase 48

DNA microarrays 53

DNA polymerase 51–3

DNA repair genes 45

DNA sequence

   cancer genetic alterations 44

   HapMap project 91–2

   hybridisation 48–9

   identifiable 53–4

   patenting 266–7

   predictive value 208

DNA testing 113–15

   consent 216

   cystic fibrosis carrier testing 114

double-stranded DNA, denaturation 48–9

Down syndrome 37, 40

   antenatal screening 173, 191

   karyotype 37, 173–4

   screening 173

drug development, pharmacogenetics 257–8

drug labelling, pharmacogenetics testing regulations 256–7

drug response genes 131

Duchenne muscular dystrophy

   gene therapy 140–2

   testing of children 216–17

duty to warn 213–14

dysmorphology database 159

dystrophin gene mutations 120


ecogenetics 125, 127–8

education 278–80, 289

electrophoresis 48

   mutation finding techniques 115–16

embryonic stem cells 144, 145, 146, 195–7

   cell nuclear transfer 147

   patenting 267

   research policy 260–2, 287–8

   resources 221

embryos

   donated 237

   donors for research 196–7

   genetic manipulation 194

   research 195–7

      globalisation 261–2

   resources 221

employment

   discrimination 249–50

   environmental factor exposure 209–10

   genetic information use 208–10

   genetic testing 250

   resources 222–3

environmental factors

   control 199

   diseases 7

   genetic disease 6–9

   genetic factor combination 7–9

   health determinants 3–5

   heritability 76–9

   occupational exposure 209–10

   public health genetics 5

   toxins 127–8

   traits 7

Environmental Genome Program (US) 128

enzyme mismatch cleavage 116

epidemiological reviews 13

epidemiology

   analytical 69–70

   association 65–7

      measurement 69–70

   bioinformatics 60–1

   case–control studies 70–1, 72–3

      familial relative risk 76

   causation 65–7

   clustering in families 75–6

   cohort studies 70–2

      familial relative risk 76

   definition 65

   disease frequency 68

   effect 65

   familial relative risk 75–6

   genetic 9–10

      human disease 74

      resources 103–5

   genetic variation and disease susceptibility 74–80

   heritability 76–9

   illness occurrence measurement 67–70

   interaction 73–4

   public health genetics 9

   research 244

   resources 103

   risk 67–8

epigenetic mechanisms 187

   disorders 41–2

epigenetic modifications 29

epistasis 99–100

Equalities Review 247

error

   Type I 86–7, 87

   Type II 87

Escherichia coli O157:H7 148

ethics 186

   clinical genetics 213–18, 223

   confidentiality 213–14

   duty to warn 213–14

   guidelines 213

   pharmacogenetics in drug development 258–9

   resources 219–20

   right not to know 214–15

EU sixth Framework Programme for Research (FP6) 272–3

EU Clinical Trials Directive 264–5

EU Data Protection Directive (1995) 241

EU Directive on the Legal Protection of Biotechnological Inventions 266

EU Tissue Directive 263

eugenics 189–91, 190

   genetic enhancement 194

   resources 220

eugenics movements 189–90

European convention on human rights 230–2

European convention on human rights and biomedicine 232

European Medicines Agency

   Advanced Therapy Medicinal Products 263–4

   pharmacogenetics in drug development 258

European Molecular Genetics Quality Network 253

European Patent Convention 266

European Patent Office, embryonic stem cells 267

European Union

   embryonic stem cell research 262

   pharmacogenetics in drug development 258

   research policy 272–3

evidence-based medicine 277

exceptionalism, genetic 198–9

exons 27, 28

exposure measurement

   case–control studies 73

   cohort studies 72

expressed sequence tags (ESTs) 57


factor V Leiden, laboratory testing 165

familial adenomatous polyposis

   predictive testing 109

   testing of children 216–17

familial clustering 75–6

familial hypercholesterolaemia 43

   family tracing 177

   life assurance 209

   National Service Framework 179

familial relative risk 75–6

family

   genetic information 198, 246

   genetic testing 218

family as unit of care 160

   primary care 180

family history

   cancer 161, 180–1

   data 246–7

   disease prevention 126–7

   risk prediction 126

   use by insurers 248

family tracing 125

   disease prevention 124–5

   familial hypercholesterolaemia 177

fertility clinics 237

finance 276–8

fluorescent in situ hybridisation (FISH) 49–50, 50, 112, 166

Food and Drug Administration (FDA)

   clinical trials 264

   drug labelling 256–7

   marketing authorisation for advanced therapies 264

   pharmacogenetic data submission 257–8

forensics

   database use 204

   databases 200

   resources 222–3

founder mutations 98

fragile X syndrome, laboratory services 164

funding

   education/training 279–80

   public health 273

   public understanding of science 281

   research 170, 270–1


gametes, donated 237

gel electrophoresis 49

   capillary 115

   conformation-sensitive 115, 116

   polyacrylamide two-dimensional 58

gene(s) 25

   candidate in association studies 91–4

   complexity 30

   deletions 32

   disease relationship 46–7

   diseases 37–43

   drug response 131

   enhancers 27

   expression 26–8

   function study 57

   functional variants 92–3

   identifying 57

   insertions 32

   penetrance 46

   promoters 27

   regulation 29

   structure 27

   transcription 26–7, 27

   translation 26–7, 27

gene expression 27

   profiling 137–8

gene therapy 138–44, 140

   cancer 142

   clinical trials 140, 265

   in utero 139

   methods 139–40

   policy development 260, 287–8

   RNA therapies 143–4

   safety 142–3

   single-gene diseases 140–2

   viral vectors 139–40

   X-SCID 141

Gene Therapy Advisory Committee 229

   gene therapy clinical trials 265

gene variants

   Mendelian randomisation 102–3

   multiple effects 103

   pathogenicity 96–7

   protein-truncating 97

   segregation 97

gene-based therapy regulation 259–64

gene–environment interactions 4, 10, 100–3

   case–control studies 100

   case-only studies 100–1

   Mendelian randomisation 101–3

   study designs 100–1

gene–gene interactions 99–100

GENEEYE database 159

genetic counselling/counsellors 158, 161

   cardiac disease 162

   inherited bleeding disorders 169

genetic databases 199–206

   commercial sector 204–5

   consent 200–3

   feedback to participants 205–6

   forensic use 204

genetic determinism 186–9

genetic discrimination resources 222–3

genetic diseases 37–43

   environmental factors 6–9

   genetic factors 6–9

   heritable 46–7

   mutations 46–7

   resources 61–3

   variable expressivity 47

genetic enhancement 193–4

genetic exceptionalism 198–9

   insurance 208

genetic factors

   environmental factor combination 7–9

   expression 6–7

   genetic disease 6–9

   health determinants 3–5

   heritability 76–9

   public health genetics 5

genetic heterogeneity 47

   cystic fibrosis carrier testing 114

genetic information 197–206

   availability regulation 250–1

   confidentiality 240–7

   data protection 246–7

   databases 199–206, 201, 240

   definition 197

   disclosure 213–14

   discrimination 206–8

   disease risk 198

   DNA-based 198

   employment use 208–10

   fair processing 243

   familial nature 198

   family 246

   guidance on use in research 244

   Huntington’s disease 197–8

   ill health prediction 198

   legislative framework for research 240–3

   pharmacogenetics 204

   predictive value 207

   privacy 240–7

   protection 199, 245–7, 285–6

   resources 221–2

   right not to know 214–15

   single-gene diseases 197–9

   statutory controls 240–1

   US Federal legislation 244–5

   use 199

Genetic Interest Group 170

genetic interventions, availability of advantages 210–11

genetic invention licensing 269

genetic linkage 11

genetic literacy, public 280

genetic manipulation of embryos 194

genetic maps 11, 53–5

   human genetic variation 56–7

genetic markers 53–5, 112

   disease susceptibility 80

   polymorphic 54–5

genetic programme complexity 28–31

genetic reductionism 186–9

   resources 220

genetic registers 163–4

genetic science

   growth 10–11

   knowledge of practitioners 23

   public perception 218–19

genetic susceptibility 125–6

   testing 109

genetic technology 48–55

genetic testing 106

   ACCE framework for evaluation 122

   adults lacking capacity to consent 217–18

   advertising 253–4

   antenatal 107–8

   best interests of person 218

   carrier 108

   children 216–17

   clinical value 278

   consent 215–18, 238–40, 285

   cytogenetic 112–13

   diagnostic 107–8

   disease risk 208

   DNA testing 113–15

   employment 250

   evaluation of tests 121–3

   family 122

   family context 218

   genetic susceptibility 109

   health economics 277–8

   healthcare services regulatory mechanisms 254–5

   Human Tissue Act 238–40

      adult lacking capacity for consent 218

      children 217

   Huntington’s disease 188

   information availability regulation 250–1

   laboratory regulation 253

   legal aspects 215–18

   Mental Capacity Act 239–40

   methods 111–21

   molecular 253

   motivation 208

   mutations 113–14

      techniques for finding 114–21

   over-the-counter 253–4

   pharmacogenetics 135–6, 256–9

   population screening 110–11

   practice guidelines 255–6

   predictive 108–9

      moratorium 248, 249

   pre-implantation 193–4

   provision of service 211–12

   regulation 286

      of availability 252

   resources 151

   unit of analysis 122

   US 252–3, 255

genetic underclass 210–11

genetic variants

   disease allele frequency estimation 97–8

   disease association determination 121

   disease susceptibility 74–80, 96–9

genetic variation 31–3, 74–80

   disease resistance 149

   disease susceptibility 149

   mapping 56–7

geneticisation 188–9

   resources 220

genetics

   clinical 14–15

   complexity 30

   resources 61

Genetics Commissioning Advisory Group (GenCAG) 171–2, 255

genetics databases, confidentiality 203–4

Genetics, Embryology and Assisted Conception Branch of DoH 226

Genetics and Insurance Committee 229

Genetics Knowledge Parks 13

genetics services

   commissioning 171–2, 183

   health economics 277–8

   inherited bleeding disorders 169–70

   multidisciplinary 176–7

   resources 182–3

   voluntary organisations 170–1, 183

   see also clinical genetics services

Genetics White Paper (2003) 227, 279

genome 23–5

   copy-number changes 118–20

   diploid 28–9

   germ-line 123–4

   maintenance 33

   organism relationship 187

   somatic 124

genome sequencing 11

   projects 59

genome-based knowledge 16, 18

Genome-based Research and Population Health International Network (GRaPH Int) 16–17

genome-based science and technology 16–17

genomic analysis 57

genomic imprinting 42

genomic libraries 50–1

genomic medicine 20–1, 60–1

genomics

   comparative 59, 64

   EU research 273

   evaluation 15

   functional 64

   global health 22

   research costs 275

   resources 63

genotype 6–7

   frequency 85

   of interest, characterisation 121

   susceptibility 12

genotypic biomarkers, availability of advantages 210–11

global health, genomics 22

glutathione S-transferase M1 (GSTM1) gene 46

government departments, policy development 226

Great Ormond Street Hospital for Sick Children 168


haematological disorders, laboratory testing 165

haemochromatosis

   geneticisation 189

   laboratory testing 165

haemoglobin S allele 149

haemoglobinopathies 168–9

   laboratory testing 165

   screening 174

haemophilia 39

   clinical services 169–70

   gene therapy 140–2

   laboratory testing 165

haplotype(s) 56–7, 81

haplotype analysis 91

   association studies 90–1

HapMap project 56–7, 91–2

health determinants

   environmental factors 3–5

   genetic factors 3–5

   public health genetics 3–4

health economics 276–8, 289

   analysis 277

   genetic testing 277–8

   genetics services 277–8

   pharmacogenetics 259

Health Insurance Portability and Accountability Act (1996, US) 244–5

health professionals, education/training 279

health service codes of practice 242

Health and Social Care Act (2001, UK) 242

health tourism 235

Healthcare Industry Task Force (HITF) 275–6

healthcare services, regulatory mechanisms for genetic testing 254–5

HER2 gene profiling 137

Herceptin[CE1], drug labelling 256–7

hereditary haemochromatosis, family tracing 125

heritability 76–9

   adoption studies 78–9

   interpretation 77

   twin studies 77–8

high-performance liquid chromatography, denaturing (DHPLC) 119–20

Hirschsprung disease 47

HIV infection resistance 149, 150

hospital managers, competence in genetics 278–80

host genetics 149–51

HuGENet 13, 95

human disease, genetic epidemiology 74

Human Fertilisation and Embryology Act (1990, UK) 233–4

   consent procedures 263

   policy on embryo research 260–1

   public consultation 237

   therapeutic cloning 237

Human Fertilisation and Embryology Authority (HFEA) 229

   children’s rights in assisted reproduction situations 236

   consent procedures 263

   embryo research policy 260–1

   pre-implantation genetic diagnosis 234–5

human genes, pathogen response 149

human genetic variation mapping 56–7

Human Genetics Commission 228, 229

   employment discrimination 249

   Genetic Discrimination Working Group 247–8

   genetic information protection 245

   over-the-counter genetic testing 254

   population screening programmes 235–6

human genome

   public domain 268

   size 30

human genome project 11, 55–7

   post-genome challenge 57–61, 63–4

   public health genetics impact 11–13

   reference sequence 55

   resources 20–1, 63

   shotgun sequencing 55

human health determinants 3

Human Rights Act (1998, UK) 242

Human Tissue Act (2004, UK) 215–16, 229

   consent

      adults lacking capacity for 218, 239–40

      to DNA testing 216

      procedures 263

   DNA analysis 238–9

   genetic testing 238–40

      of children 217

   implementation 239

   tissue bank codes of practice 263

Human Tissue Authority 229, 239

   consent procedures 263

human/animal hybrids 196

Huntington’s disease 39

   antenatal testing availability 191–2

   ethics 188

   genetic information 197–8

   genetic testing 188

   insurance 207

   mutations 32–3

   neurogenetics 163

   neurological condition National Service Framework 179

   penetrance 46

   predictive testing 108, 109, 215

   right not to know 214

hypercholesterolaemia see familial hypercholesterolaemia


illness occurrence measurement 67–70

immigration, eugenics 189–90

immunoreactive trypsin (IRT) test, cystic fibrosis mutations 174

imprinting 41

in vitro fertilisation 236

inborn errors of metabolism see metabolic diseases, inherited

infectious diseases 147–50

   host genetics 149–51

   individual targeting of therapy 150

   pathogen genetics 148–9

inheritance

   autosomal 38

   cancer 44–5

   genetic model 79–80

   patterns 35–6

   X-linked 39

insurance

   discrimination 206–8, 248

   familial hypercholesterolaemia 209

   family history use 248

   predictive genetic testing moratorium 249

   resources 222–3

   US 250

intellectual property 265–9, 288

interaction, epidemiological 73–4

international context of policy/policy making 229–33, 284

introns 27, 28

investigational new drugs (IND) 257–8


justice, genetic underclass 210–11


karyotype/karyotyping 25, 26

   Down syndrome 37, 173–4

knowledge integration 17


laboratory regulation, genetic testing 253

laboratory services 164–7

   biochemical genetics 166–7

   cytogenetic testing 166

   integration with clinical services 167

legal aspects

   clinical genetics 213–18, 223

   genetic testing 215–18

   implications of genetics 186

likelihood, LOD score 82

linkage analysis

   association comparison 94

   disease loci finding 83

   disease susceptibility genetic determinants 80–4

   model-based 81–2

   model-free 83–4

   statistical packages 83, 84

linkage disequilibrium 56–7

   association studies 87–9

locus heterogeneity 83

LOD score 82

lung cancer 66


major histocompatibility complex (MHC) 149

malaria 148

MALDI-TOF mass spectrometry 120

Manchester Willink Biochemical Genetics Unit 168

Marfan syndrome 47

market authorisation

   advanced therapies 263–4

   medical test statutory regulation 251–3

markets, pharmacogenetics in drug development 258–9

mass spectrometry, tandem, MCADD screening 175

maximum likelihood methods 79

medical databases, diagnostic 159

Medical Devices Regulations (2002) 251–2

medicalisation 188

medicine, genetics in 106

   mainstream 176–80, 184–5

   organisations representing professionals 158

Medicines and Healthcare Products Regulatory Agency (MHRA) 251–2, 262–3

   clinical trials 264–5

Medicines for Human Use (Clinical Trials) Regulations (2004) 264–5

medium-chain acyl CoA dehydrogenase deficiency (MCADD) screening 173, 175

meiosis 34, 34–5

   recombination 80–1

Mendelian disorders 37, 38–9, 187–8

   ethics 188

   gene therapy 140–2

   linkage analysis 83

   penetrance 46

Mendelian inheritance, cancer 44–5

Mendelian randomisation 102

   gene variants 102–3

   gene–environment interactions 101–3

Mendelian subsets

   common diseases 42–3

   multifactorial diseases 42, 43

Mental Capacity Act (2005, UK) 218

   genetic testing 239–40

messenger RNA (mRNA) 26–8

meta-analysis 96

   association studies 94–6

   resources 105

metabolic diseases, inherited

   clinical services 167–8

   neonatal screening 175

microarray technology 53, 54

   gene expression profiling 137–8

microsatellite markers 54–5

minority groups 212

mismatch cleavage detection 115

mismatch repair genes 45

mitochondria 25

mitochondrial disorders 39

mitosis 34

molecular beacons 118

molecular genetic profiling 137–8

molecular genetics 23–8

   laboratory services 164–5

multidisciplinary services 176–7

multifactorial diseases 6–7, 43–6

   cancer 45

   Mendelian subsets 42, 43

multiplex ligation-dependent probe amplification (MLPA) 118, 119

muscular dystrophy

   neurological condition National Service Framework 179

   see also Duchenne muscular dystrophy

mutations 31–3

   dynamic 32–3

   founder 98

   genetic disorders 46–7

   genetic testing 113–14

   inherited 46–7

   new 46–7

   PCR-based detection 116–18

   techniques for finding 114–21

   types 32

   see also point mutations


NAT1 and NAT2 genes 127

National Clinical Trials Agency 275

National Coalition for Health Professional Education 279

National Genetics Reference Laboratories 255

National Health Service (NHS)

   Code of Confidentiality 242

   genetic tests evaluation 255

   Health Technology Assessment Programme 256

   improvement plan 276

   intellectual property policy 268–9

   Research and Development Strategy 271

   social equity 277

National Institute for Clinical Excellence (NICE) 256

National Institute for Health and Clinical Excellence (NICE) 274, 277

National Institute for Health Research (NIHR) 271–2

National Service Frameworks (NSFs) 178–9, 276

Nazi regime 190

neonatal screening 110, 167, 174–5

   newborn bloodspot programme 173

neural tube defects 43

neurofibromatosis type 1 46–7

neurogenetics 163–4

   diagnostic database 159

neurological conditions, National Service Framework 179

neuromuscular disorders 163

   neurogenetics 163

New Drug Application (NDA) 258

newborn bloodspot programme 173

Northern Ireland, policy development 226

nutrigenetics/nutrigenomics 129–30


odds ratio 69, 70

   case-only studies 101

Office of Science and Innovation of DTI 227

oligonucleotides 53

oncogenes 45

organ retention scandals 238, 239

Organisation for Economic Cooperation and Development (OECD) 231

   intellectual property 269

   molecular genetic testing survey 253

over-the-counter genetic testing 253–4


patents 265–9, 288

pathogens

   genetics 148–9

   human gene response 149

Pathology Modernisation Programme 276

penetrance 7, 46

   estimation 98–9

person-time at risk 68

pharmaceutical industry 274

pharmacogenetics 61, 130–6, 131, 132

   availability of advantages 210

   clinical services 181–2

   data submission 257

   drug development 257–8

   genetic information 204

   health economics 259

   heritable variation 130–4

   policies 256–9, 286–7

   predictive value 135

   prescribing guidance 136–7

   regulation of tests 256–7

   SNP profiling 134–5

   testing 135–6, 256–9

   variants 259

phenotype 6–7

   association studies 93–4

   twin studies 77

phenotypic biomarkers 208

   availability of advantages 210–11

phenylketonuria 7–9

   cause 67

   screening 166, 167, 173, 175

Plasmodium falciparum 148

point mutations 31, 32, 31

policy/policy making 225–6

   advanced therapies 259–62, 287–8

   assisted reproduction 194–5, 284–5

   cellular therapy regulation 259–64

   clinical research governance 265, 288–9

   clinical trials 264–5, 288

   commercial sector 274–6

   confidentiality 240–7

   consent to genetic testing 238–40

   development in UK 226–9, 282–4

   education 278–80, 289

   embryonic stem cell research 260–2, 287–8

   finance 276–8

   gene-based therapy regulation 259–64, 287–8

   health economics 276–8, 289

   intellectual property 265–9, 288

   international context 229–33, 284

   patents 265–9, 288

   pharmacogenetics testing 256–9, 286–7

   privacy 240–7

   protection against discrimination 247–56

   public health 273–4

   public involvement 280–1, 289–90

   reproductive decision-making 233–47, 284

   research governance 264–5, 288

   research scientific/clinical base 269–73

   response to organ retention scandals 239

   training 278–80, 289

polyacrylamide gel electrophoresis, two-dimensional (2-D PAGE) 58

polycystic kidney disease, autosomal dominant 47

polymerase chain reaction, quantitative fluorescent (QF-PCR) 112

polymerase chain reaction (PCR) 10, 51, 52

   DNA analysis 52, 114

   mutation detection 116–18

   quantitative 116

   real-time 117

polymorphisms 31–3

   cancer 46

population databases 199–200

population health, genome-based knowledge 18

population screening 110–11

   carrier 175–6

   programmes 172–6, 235–6

   provision of service 211–12

   resources 183–4

population stratification, case-control studies 89–90

practice guidelines for genetic testing 255–6

Prader–Willi syndrome 41

   somatotropin contraindication 136–7

pregnancy termination 107–8, 233–4

   late 234

   non-lethal conditions 234

pre-implantation genetic diagnosis 108, 234–5

   regulation 235

pre-implantation testing 193–4

prescribing, guidance on pharmacogenetics 136–7

prevalence proportion 68–9

prevention see disease prevention

primary care 181

   genetics 179–81

   role of team 180

Primary Care Trusts 171, 172

privacy

   genetic information 240–7

   see also confidentiality

professional organisations 158

protein arrays 58–9

protein chips 58–9

proteins, post-translational modification 58

proteomics 57–9

   resources 64

public engagement in science and technology 281

public health

   funding 273

   policy 273–4

   practitioners 14

      competence in genetics 278–80

   principles 20

   research 273–4

   White Paper 274

public health genetics 1

   attitudes to 14–15

   community genetics differences 14

   definitions 1–3

   development 9–14, 22

   disease prevention 8–9, 12

   emergence 9–14, 20

   environmental factors 5

   epidemiology 9

   genetic factors 5

   health determinants 3–4

   human genome project impact 11–13

   international network 15–17

   practice 2

   practitioners 23

   specialist centre funding 12–13

   sphere of influence 2–3

public involvement in policy 280–1, 289–90

public perception of genetics 218–19

   resources 223–4

public–private partnerships 275, 276, 288–9


racial categories 212

racial discrimination 211–12

   resources 222–3

racial purity in eugenics 190

random variation 66

recombination 34–5, 35

   chromosomes 80–1

   LOD score 82

recombination fraction 81, 82

reductionism

   genetic 186–9

   resources 220

regulatory system for genetics 227–9

reproductive choice 191–5

   genetic enhancement 193–4

   informed 192

   limits 192–4

   resources 220–1

reproductive cloning 195

reproductive decision-making, policy development 233–47, 284

reproductive decisions, state-enforced 190–1

reproductive tourism 235

research

   Academy of Medical Sciences guidance 244

   capacity 272

   clinical base 269–73

   costs 275

   crown use provisions 268

   embryonic stem cell policy 260–2

   epidemiology 244

   EU policy 272–3

   funding 170, 270–1

   genetic information use

      guidance 244

      legislative framework 240–3

   governance 265

      policy 264–5, 288

   public health 273–4

   scientific base 269–73

Research Ethics Committees 242, 265

Research Governance Framework 265

restriction fragment length polymorphisms (RFLPs) 54–5

   genetic markers 80, 112

RET gene mutation 47

ribosomal RNA (rRNA) 27–8

risk

   cancer 161

   cohort studies 72

   epidemiological 67–8, 68

   familial relative 75–6

   family history 126

   genetic information 198

   genetic testing revealing 208

   identification in primary care 180

   ratio 69

   relative 69–70, 75

RNA 26–7

RNA interference (RNAi) 143, 143–4

RNA therapies 143–4


SARS epidemic 148

saviour siblings 235

science education 272

science and technology, public engagement 281

scientific literacy 280–1

scientific understanding 280

Scotland, policy development 226

screening

   antenatal 173, 174, 191–2

   carrier 175–6

      pre-conception 179

   cystic fibrosis 174–5, 211–12

   Down syndrome 173

   haemoglobinopathies 174

   inborn errors of metabolism 175

   neonatal 167, 174–5

   phenylketonuria 166, 167, 173, 175

   see also population screening

segregation, gene variants 97

segregation analysis 79–80

service commissioners, competence in genetics 278–80

service models, development for cancer genetics 177–8

service provision, minority groups 212

sex cell formation 34–5

sex chromosomes 25

   disorders 40

sex selection 235

   pre-implantation genetic diagnosis 234

short interfering RNA (siRNA) 143–4

sickle-cell disease

   clinical services 168–9

   haemoglobin S allele 149

   laboratory testing 165

   prevalence 46

   primary care 179

   racial prevalence 211

   screening 173, 174, 211–12

signalling 30

single nucleotide polymorphisms (SNPs) 54–5, 56–7

   anonymous 259

   genetic markers 80

   haplotype analysis 90–1

   high-throughput analysis, denaturing HPLC 120

   profiling in pharmacogenetics 134–5

single-gene disorders 37, 38–9, 188

   gene therapy 140–2

   genetic information 197–9

   insurance 207

single-stranded conformation polymorphism (SSCP) detection 115

social disadvantage 210–11

social implications of genetics 186

   pharmacogenetics in drug development 258–9

somatic cell alterations 44

somatotropin contraindication in Prader–Willi syndrome 136–7

Sperm Egg and Embryo Donation (SEED) review 237

spina bifida 43

statistical interaction 74

statistical packages, linkage analysis 83, 84

statistics

   model-based 99

   multiple testing effect correction 87

   Type I error 86–7, 87

   Type II error 87

Stem Cell Bank 261, 262–3

stem cell research

   consensus statement on government 262

   globalisation 261–2

   policy development 260, 261

   see also embryonic stem cells

stem cell therapy 144–7

   cell nuclear transfer 147

sterilisation, forced 190

   eugenics 189–90

stroke risk and blood pressure 5

support workers, specialist 170

susceptibility genetics 125–6

   testing 109

systematic review

   association studies 94–6

   resources 105

systems biology 60, 64


Taq1 polymorphisms, maternal cigarette smoking 100, 101

TaqMan® 117, 117–18

Tay Sachs disease 175–6

   pre-conception carrier screening 179

   prevalence 46

   racial factors in prevalence 211

testing kits 252

thalassaemia 113

   clinical services 168–9

   laboratory testing 165

   pre-conception carrier screening 179

   screening 173, 174

thiopurine methyltransferase (TPMT) 134

   pharmacogenetics 134

thymidine kinase (TK) gene therapy 142

tissue banks, codes of practice harmonisation 263

tissue engineering products, market authorisation 263–4

tissue typing, pre-implantation genetic diagnosis 234–5

tissue-based materials, therapeutic 262–3

training 278–80, 289

transfer RNA (tRNA) 27–8

translational research 17

translocations, balanced 40

transmission disequilibrium test 90

trastuzumab, breast cancer 137

triplet repeat expansions 32–3

trisomy disorders 40

tuberous sclerosis, neurogenetics 163

tumour suppressor genes 45

twin studies, heritability 77–8


UK Accreditation Service 253

UK Biobank 60, 71, 275

UK Clinical Research Collaboration (UKCRC) 271

UK Genetic Testing Network (UKGTN) 165, 171, 172, 255

UK government

   advisory bodies 229

   advisory system for genetics 227–9

   policy development 226–9

   regulatory system for genetics 227–9

   specialist advisory groups 229

UK Joint Committee on Medical Genetics ethical guidelines 213

UK Patent Office

   embryonic stem cells 267

   guidelines 268

UK Stem Cell Bank 261, 262–3

unit of care, family 160

United Nations Educational, Scientific and Cultural Organisation (UNESCO) 229–30, 231

   genetic information protection 245–6

United States

   advertising 254

   clinical trials 264

   employment discrimination 250

   genetic testing 252–3, 255

   health-professional education/training 279

   insurance 250

   laboratory regulation 253

   marketing authorisation for advanced therapies 264

   pharmacogenetics testing regulations 256–7

Universal declaration on bioethics and human rights 230

US Federal legislation

   discrimination 248

   genetic information 244–5

US Preventive Services Task Force 256


variable number of tandem repeats (VNTR), genetic markers 80

variance 76

   partitioning 77

   phenotypic 77

vas deferens, congenital absence 189

voluntary organisations 170–1

   resources 183

von Willebrand disease, clinical services 169–70


Wales, policy development 226

warfarin 135, 136

Winter–Baraitser Dysmorphology Database 159

World Health Organization (WHO) 230, 231

   genetic information protection 245–6

World Medical Association 231–2


X-linked severe combined immunodeficiency (X-SCID) 141

   gene therapy 141


© Cambridge University Press


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