Klienditugi: 7440010 (E-R 10-18)

Medical and Health Genomics [Kõva köide]

Edited by Stylianos Antonarakis (University of Geneva Medical School, Geneva, Switzerland), Edited by Dhavendra Kumar (Honorary Clinical Professor, William Harvey Research Institute, Queen Mary University of London, UK)

Formaat: Hardback, 358 pages, kõrgus x laius: 276x216 mm, kaal: 1250 g, 50; Illustrations, unspecified
Ilmumisaeg: 24-Jun-2016
Kirjastus: Academic Press Inc
ISBN-10: 0124201962
ISBN-13: 9780124201965

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Medical genetics - (Hetkel poes: 3 nimetust)

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Formaat: Hardback, 358 pages, kõrgus x laius: 276x216 mm, kaal: 1250 g, 50; Illustrations, unspecified
Ilmumisaeg: 24-Jun-2016
Kirjastus: Academic Press Inc
ISBN-10: 0124201962
ISBN-13: 9780124201965

Teised raamatud teemal:

Medical genetics - (Hetkel poes: 3 nimetust)

Püsilink: https://www.kriso.ee/db/9780124201965.html

Märksõnad:

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health.Coverage is based on evolving paradigms of genomic medicine, in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management.Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare managementPresents user-friendly language accompanied by explanatory diagrams, figures, and many references for further studyCovers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and managementDetails the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Muu info

This timely book examines the impact of clinical genomics across an array of public and community health issues, and within a variety of global healthcare systems offering concise, evidence-based technical and practical information on applied and translational aspects of genome sciences and technologies related to clinical medicine and public health

List of Contributors

Foreword

xiii

Preface

1 The Human Genome

D. Kumar

Introduction

(1)

Hereditary Factors, Genes, Genetics, and Genomics

(1)

Structure and Organization of Nucleic Acids

(3)

Human Genome Variation and Human Disease

(3)

Measuring Genetic and Genomic Variation

(1)

Genome Variation and Human Disease

(1)

The Mitochondria! Genome

(1)

Functional Genomics, Transcriptomics, and Proteomics

(1)

Translational Human Genomics

(1)

Human Genomics for Socioeconomic Development

(1)

Conclusions

(1)

References

(3)

2 Genomic Technologies in Medicine and Health: Past, Present, and Future

Y.H. Rogers

C. Zhang

Introduction

(1)

Sequencing Technologies

(1)

Computational and Information Technologies

(1)

Applications of Genomic Technologies

(1)

The Microbiome and Human Health

(1)

The Pediatric Microbiome

(1)

The Microbiome and Oral Health

(1)

The Microbiome and Gastrointestinal Health

(1)

The 1000 Genomes Project and Structural Variations in the Human Genomes

(1)

Noninvasive Prenatal Testing by Sequencing of Cell-Free Fetal DNA in the Maternal Blood

(1)

Prenatal Diagnosis by Whole Genome Sequencing of "Jumping Libraries"

(1)

Postnatal Diagnosis

(1)

Genome Sequencing in Newborn Healthcare

(1)

Genome Sequencing in Other Research Areas

(1)

The Cancer Genome Atlas and Cancer Genomics

(1)

Cancer Diagnosis

(1)

Precision Medicine

(2)

Development of Targeted Therapeutics for Genetic Disorders

(1)

Development of Targeted Therapeutics for Cancers

(1)

Genomic Profiling and Counseling

(1)

The Precision Medicine Initiative

(1)

Policy and Regulatory Issues

(1)

Genomic Education

(1)

References

(4)

3 Genomic Databases, Access Review, and Data Access Committees

M. Shabani

B.M. Knoppers

P. Bony

Introduction

(1)

Underlying Principles, Policies, and Guidelines

(1)

Examples of Controlled-Access Databases and Pertinent Data Access Committees

(2)

European Genome-phenome Archive

(1)

Database of Genotypes and Phenotypes

(1)

Ethical and Legal Challenges

(2)

Consent

(1)

Oversight Mechanisms on Downstream Uses and Enforceability

(1)

Data Producers and Data Users' Interests and Benefits

(1)

Conclusion

(1)

Acknowledgments

(1)

References

(3)

4 Diagnostic Genomics and Clinical Bioinformatics

A. Haworth

H. Savage

N. Lench

Introduction

(5)

Current Clinical Practice: Diagnosis

(1)

Chromosomal Microarrays

(1)

Single Gene Testing

(1)

Gene Panel Testing

(1)

Exome Sequencing

(1)

Whole Genome Sequencing

(1)

Diagnostic Testing Strategy

(1)

Inherited Cardiac Conditions

(1)

Hypertrophic Cardiomyopathy

(1)

Aortopathies

(1)

Intellectual Disability

(1)

Deciphering Developmental Disorders

(1)

The UK100K Genomes Project: Large-Scale Implementation of Whole Genome Sequencing

(6)

Clinical Bioinformatics

(1)

Clinical Phenotyping

(1)

Bioinformatics Pipelines

(1)

Reference Genome

(1)

Interpretation of DNA Sequence Variants

(1)

Protein-Altering Variants

(1)

Variants Causing Aberrant Messenger RNA Splicing

(1)

Nucleotide Conservation

(1)

Inheritance and Mutation Type

(1)

Segregation Analysis

(1)

Mutational Mechanism and Variant Spectrum

(1)

De Novo Mutations

(1)

Functional Evidence

(1)

Databases and Literature

(1)

Literature Databases

(1)

Online Mendelian Inheritance in Man

(1)

Incidental Findings

(1)

Data Sharing

(1)

Conclusion

(1)

References

(3)

5 Epigenetics and Epigenomics in Human Health and Disease

R. Festenstein

Introduction

(1)

Epigenotype and Regulation of Gene Expression

(2)

Epigenotypes and Human Disease

(9)

Trinucleotide Repeats and Human Disease

(1)

Friedreich Ataxia

(1)

Myotonic Dystrophy

(1)

Fragile X Syndrome

(1)

Facioscapulohumeral Dystrophy

(2)

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome: Genetic Mutations Causing Methylation

(1)

Rett Syndrome

(1)

alpha-Thalassemia X-Linked Mental Retardation Syndrome

(1)

Epigenetic Mechanisms in Cancer

(1)

Conclusion

(1)

Acknowledgment

(1)

References

(12)

6 Mitochondrial Genomics: Emerging Paradigms and Challenges

V. Singh

P. Gupta

N.K. Rajput

A. Bhardwaj

Introduction

(1)

Nongenetic Diagnostics for Mitochondrial Dysfunction

(3)

Genome Data Deluge

(1)

DNA Testing, Next Generation Sequencing, and Mitochondrial Disease Diagnosis

(1)

Next Generation Sequencing

(1)

Next Generation Sequencing-Based Diagnostic Assay Design for Mitochondrial Disorders

(1)

Translational Advancements

(3)

Semantic Data Standards for Community Collaboration

(1)

The Road Ahead

(1)

Conclusions

(1)

References

(3)

7 The Significance of Metabolomics in Human Health

D.F. Gomez-Casati

M. Grisolia

M.V. Busi

Introduction

(1)

Metabolomics in Human Diseases

(3)

Biomarker Detection

(1)

Group Discrimination (Diagnosis)

(1)

Inborn Metabolic Disorders

(1)

Cancer Metabolomics

(1)

Biomarkers for Psychiatric Diseases

(1)

Metabolomics in Environmental and Public Health

(1)

Human Nutrition

(1)

Intestinal Metabolome

(1)

Conclusions

(1)

Acknowledgment

(1)

References

(3)

8 Microbial Genomics: Diagnosis, Prevention, and Treatment

A. Mutreja

Background

101

(1)

Control and Prevention

101

(2)

Treatment and Diagnostics

103

(2)

References

105

(2)

9 A Metagenomic Insight Into the Human Microbiome: Its Implications in Health and Disease

R. Saxena

V.K. Sharma

Outline of the
Chapter

107

(1)

Introduction

107

(2)

Human-Associated Microflora

109

(1)

Alterations in the Healthy Human Microbiome: Association With Diseases

110

(1)

The Oral Microbiome

110

(1)

The Skin Microbiome

111

(1)

The Gut Microbiome

111

(4)

Diseases Associated With Variation in the Gut Microbial Community

112

(3)

Novel Therapeutic Strategies Based on the Human-Associated Microbiome

115

(1)

Conclusion

116

(1)

Glossary

117

(1)

List of Acronyms and Abbreviations

117

(1)

References

117

(4)

10 Pharmacogenetics and Pharmacogenomics

A. Alfirevic

M. Pirmohamed

Introduction

121

(1)

Pharmacogenomic Information in Drug Labeling

122

(2)

Pharmacogenetic Guidelines

124

(1)

Pharmacogenetic Study Design

124

(2)

Clinical Areas

126

(7)

Conclusions

133

(1)

References

134

(5)

11 Medical and Health Aspects of Genetics and Genomics

D. Kumar

Introduction

139

(2)

Chromosomal Disorders

141

(1)

Mendelian (Single-Gene) Disorders

142

(1)

Polygenic or Multifactorial Disorders

142

(2)

Mitochondria! Genetic Disorders

144

(1)

Genomic Disorders

145

(12)

Disorders of Genomic Imprinting: Epigenetic Diseases

145

(5)

Disorders of the Genome Architecture

150

(5)

Disorders With Trinucleotide (Triplet) Repeats

155

(1)

Complex Genomic Diseases

156

(1)

Disease Spectrum, Biological Pathways, and Genotypes

157

(2)

Summary

159

(1)

References

159

(2)

12 Content and Variation of the Human Genome

S.E. Antonarakis

Introduction: "The Genome Anatomy"

161

(9)

Protein-Coding Genes

165

(1)

Noncoding, RNA-Only Genes

166

(2)

Regions of Transcription Regulation

168

(1)

Conserved Elements Not Included in the Previous Categories

168

(1)

Repetitive Elements

168

(1)

Segmental Duplications

169

(1)

Special Genomic Structures Containing Selected Repeats

170

(6)

Human Centromeres

170

(1)

Human Telomeres

171

(1)

Short Arms of Human Acrocentric Chromosomes

171

(1)

Mitochondrial Genome

172

(1)

Genomic Variability

172

(4)

Genome Variation as a Laboratory Tool to Understand the Genome

176

(1)

References

176

(3)

13 Spectrum of Genetic Diseases and Management

B. Kerr

Introduction

179

(1)

Molecular Approach to Genetic Disease Nosology

179

(1)

From Marfan Syndrome to Fibrillinopathies

180

(4)

Diagnosis of Marfan Syndrome

182

(1)

Differential Diagnosis

182

(1)

Management of Marfan Syndrome

183

(1)

Treatment

183

(1)

The Emergence of RASopathies

184

(2)

Malignancy Risk in RASopathies

185

(1)

Making a Diagnosis of a Genetic Disorder in the Era of Molecular Pathways

186

(1)

Conclusion

187

(1)

References

187

(4)

14 Genomic Analysis in Clinical Practice: What Are the Challenges?

A. Lucassen

I. van Langen

Introduction

191

(1)

Consent for Genome Testing in Clinical Practice

191

(4)

Incidental Findings

195

(2)

Management of Incidental Findings

195

(2)

The Data Interpretation Problem

197

(1)

What Constitutes a Result in Genomic Medicine?

197

(1)

Diagnostic Versus Population Screening

198

(1)

Conclusions

198

(1)

References

198

(3)

15 Genomic Perspective of Genetic Counseling

C.L. Gaff

I. Macciocca

Introduction

201

(1)

Ethos and Principles of Genetic Counseling

201

(1)

Elements of Genetic Counseling

202

(1)

Counseling Issues

203

(2)

Uncertainty

203

(1)

Confidentiality and Privacy of Genomic Data

203

(1)

Secondary Findings

204

(1)

Family Communication

205

(1)

The "Healthy Genome"

205

(1)

Case Study

205

(1)

Practicalities of Counseling for Genomic Tests

206

(4)

Genetic Information Is Key

209

(1)

Patient Autonomy Must Be Supported

210

(1)

Patient Emotions Make a Difference

210

(1)

Relationship Is Integral to Genetic Counseling

210

(1)

Conclusion

210

(1)

Acknowledgment

210

(1)

References

210

(3)

16 Genetics and Genomics of Reproductive Medicine and Health

D. Kumar

Introduction

213

(1)

Female Infertility

213

(5)

Congenital Anomalies of the Reproductive Tract

213

(1)

Disorders of Abnormal Ovulation

214

(3)

Disorders of the Endometrium

217

(1)

Male Factor Infertility

218

(3)

Congenital Anomalies of the Male Reproductive Tract

218

(1)

Molecular Genetics of Male Factor Infertility

219

(2)

Mitochondrial Genes in Male Factor Infertility

221

(1)

New Genomic Applications in Male Factor Infertility

221

(1)

Genetic Factors in In Vitro Fertilization

221

(2)

Preimplantation Genetic Testing and Screening

222

(1)

Recent Advances in Prenatal Diagnosis

223

(1)

Aneuploidy (Trisomy 21) Pregnancy

223

(1)

Cell-Free Fetal DNA

223

(1)

Summary

224

(1)

References

224

(3)

17 Stratified and Precision Medicine

D. Kumar

Introduction

227

(1)

Molecular, Genetic, and Genomic Revolutions in Medicine

227

(1)

Personalized Medicine

228

(2)

Stratified Medicine

230

(4)

Challenges for Stratified Medicine

232

(1)

The Future of Stratified Medicine

233

(1)

Summary

234

(1)

References

234

(3)

18 Teaching and Training Medicine in Genomic Era

B. Korf

Introduction

237

(1)

Integration of Genomics into Medical Practice

237

(5)

The Practice of Genomic Medicine

238

(2)

The Roles of the Geneticist and Nongeneticist Health Providers

240

(1)

Competencies Required in Genomic Medicine

241

(1)

Genomics and the Medical Education Landscape

242

(1)

Premedical Education

242

(1)

Medical School

242

(1)

Residency Education

242

(1)

Postgraduate Education

243

(1)

Approaches to Medical Genomics Education

243

(1)

Medical School

243

(1)

Residency Education

244

(1)

Continuing Medical Education

244

(1)

Conclusions and Final Comments

244

(1)

References

244

(3)

19 Genomics, New Drug Development, and Precision Medicines

D. McHale

M. Penny

Introduction

247

(3)

The Drug Discovery and Development Process

248

(1)

Preclinical Testing

248

(1)

Clinical Development

249

(1)

Applying Genomics to Drug Discovery

250

(3)

Choosing the Best Drug Targets

250

(1)

Complex Trait Genetics

251

(1)

Single Gene Disorders/Traits

251

(1)

Drug-Specific Targets Approach

252

(1)

Applying Pharmacogenetics to Drug Development

253

(2)

Pharmacodynamic Variability

253

(1)

Pharmacokinetic Variability

254

(1)

Predicting Safety

255

(2)

Predicting Type B Adverse Events

255

(1)

Predicting Type A Adverse Events

255

(1)

Individualized Therapy: An Integrated Response

256

(1)

Improving Disease Classification: Stratified Medicines

256

(1)

Adverse Drug Reactions

257

(1)

Summary

257

(1)

References

258

(3)

20 Cancer Genetics and Genomics

J. Whitworth

E. Maher

Introduction

261

(1)

Inherited Cancers: Germ Line and Somatic

261

(3)

Oncogenes, Tumor Suppressor Genes, and the Identification of Cancer Predisposition Genes

261

(1)

Identifying Cancer Predisposition Genes

262

(1)

High, Medium, and Smaller Risks

263

(1)

Genetic Testing in Cancer Predisposition Syndromes

264

(2)

Risk Information as Therapy

264

(1)

Cancer Surveillance

265

(1)

Prophylactic Surgery

265

(1)

Pharmacological Management

266

(1)

Inherited Cancer Genes

266

(15)

Phenotypic Effects of Mutations in Cancer Predisposition Genes

266

(14)

Genotype-Phenotype Correlation

280

(1)

Genetic Testing and Mainstreaming

281

(2)

Genetic Testing and Next Generation Sequencing

281

(1)

Reasons for Nondetection of Causative Genetic Changes Through Clinical Testing

282

(1)

Conclusion

283

(1)

References

283

(2)

21 The Provision of Medical and Health Genetics and Genomics in the Developing World

N. Sirisena

D. Sumathipala

K. Wettasinghe

V.H.W. Dissanayake

Introduction

285

(2)

Public Health Programs in Genetics and Genomics

287

(3)

Medical Services Incorporating Genetics and Genomics

290

(3)

Summary

293

(1)

References

293

(2)

22 Genomic Applications in Forensic Medicine

C. Bursting

N. Morling

Introduction

295

(2)

The Basics of Next Generation Sequencing

297

(2)

Single Molecule Sequencing

299

(1)

Next Generation Sequencing Solutions in Forensic Genetics

300

(6)

Short Tandem Repeat Sequencing

302

(1)

The First Commercial Next Generation Sequencing Kits for Forensic Genetics

303

(2)

New Frontiers in Forensic Genetics

305

(1)

Concluding Remarks

306

(1)

Acknowledgment

307

(1)

References

307

(4)

23 Public and Population Health Genomics

A.L. Wise

T.A. Manolio

Introduction

311

(1)

Breast Cancer

311

(1)

Colorectal Cancer

312

(1)

Bronchial Asthma

313

(1)

Crohn Disease

313

(1)

Alzheimer Dementia

313

(2)

Cystic Fibrosis

315

(1)

Cross-Cutting Issues of Population Genomics

315

(1)

Summary

316

(1)

References

316

(3)

Glossary

319

(8)

Index

327

Professor Kumar has considerable previous experience in writing and editing books and journals related to genetics and genomics. His books include Genomics and Clinical Medicine and Genomics and Health in the Developing World. He founded and leads the new open access journal Applied and Translational Genomics, published by Elsevier. He has published 40 articles in the journals literature. Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King Georges Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK).

In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King Georges Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.

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