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Medical and Health Genomics
1st Edition - June 4, 2016
Editors: Dhavendra Kumar, Stylianos Antonarakis
Language: English
Hardback ISBN:9780124201965
9 7 8 - 0 - 1 2 - 4 2 0 1 9 6 - 5
eBook ISBN:9780127999227
9 7 8 - 0 - 1 2 - 7 9 9 9 2 2 - 7
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technolog…Read more
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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 management
Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study
Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management
Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Healthcare professionals and researchers interested in health systems issues, including public health genetics and epidemiology, healthcare administrators, regulators and related educators
Medical and Health Genomics
Dedication
List of Contributors
Foreword
Preface
Chapter 1. The Human Genome
Introduction
Hereditary Factors, Genes, Genetics, and Genomics
Structure and Organization of Nucleic Acids
Human Genome Variation and Human Disease
The Mitochondrial Genome
Functional Genomics, Transcriptomics, and Proteomics
Translational Human Genomics
Human Genomics for Socioeconomic Development
Conclusions
Chapter 2. Genomic Technologies in Medicine and Health: Past, Present, and Future
Introduction
Sequencing Technologies
Computational and Information Technologies
Applications of Genomic Technologies
The Microbiome and Human Health
The 1000 Genomes Project and Structural Variations in the Human Genomes
Noninvasive Prenatal Testing by Sequencing of Cell-Free Fetal DNA in the Maternal Blood
Prenatal Diagnosis by Whole Genome Sequencing of “Jumping Libraries”
Postnatal Diagnosis
Genome Sequencing in Newborn Healthcare
Genome Sequencing in Other Research Areas
The Cancer Genome Atlas and Cancer Genomics
Cancer Diagnosis
Precision Medicine
Policy and Regulatory Issues
Genomic Education
Chapter 3. Genomic Databases, Access Review, and Data Access Committees
Introduction
Underlying Principles, Policies, and Guidelines
Examples of Controlled-Access Databases and Pertinent Data Access Committees
Ethical and Legal Challenges
Conclusion
Chapter 4. Diagnostic Genomics and Clinical Bioinformatics
Introduction
The UK100K Genomes Project: Large-Scale Implementation of Whole Genome Sequencing
Conclusion
Chapter 5. Epigenetics and Epigenomics in Human Health and Disease
Introduction
Epigenotype and Regulation of Gene Expression
Epigenotypes and Human Disease
Epigenetic Mechanisms in Cancer
Conclusion
Chapter 6. Mitochondrial Genomics: Emerging Paradigms and Challenges
Introduction
Nongenetic Diagnostics for Mitochondrial Dysfunction
Genome Data Deluge
DNA Testing, Next Generation Sequencing, and Mitochondrial Disease Diagnosis
Next Generation Sequencing
Next Generation Sequencing–Based Diagnostic Assay Design for Mitochondrial Disorders
Translational Advancements
Semantic Data Standards for Community Collaboration
The Road Ahead
Conclusions
Chapter 7. The Significance of Metabolomics in Human Health
Introduction
Metabolomics in Human Diseases
Biomarker Detection
Group Discrimination (Diagnosis)
Inborn Metabolic Disorders
Cancer Metabolomics
Biomarkers for Psychiatric Diseases
Metabolomics in Environmental and Public Health
Human Nutrition
Intestinal Metabolome
Conclusions
Chapter 8. Microbial Genomics: Diagnosis, Prevention, and Treatment
Background
Control and Prevention
Treatment and Diagnostics
Chapter 9. A Metagenomic Insight Into the Human Microbiome: Its Implications in Health and Disease
Outline of the Chapter
Introduction
Human-Associated Microflora
Alterations in the Healthy Human Microbiome: Association With Diseases
The Oral Microbiome
The Skin Microbiome
The Gut Microbiome
Novel Therapeutic Strategies Based on the Human-Associated Microbiome
Conclusion
Glossary
List of Acronyms and Abbreviations
Chapter 10. Pharmacogenetics and Pharmacogenomics
Introduction
Pharmacogenomic Information in Drug Labeling
Pharmacogenetic Study Design
Conclusions
Chapter 11. Medical and Health Aspects of Genetics and Genomics
Introduction
Chromosomal Disorders
Mendelian (Single-Gene) Disorders
Polygenic or Multifactorial Disorders
Mitochondrial Genetic Disorders
Genomic Disorders
Disease Spectrum, Biological Pathways, and Genotypes
Summary
Chapter 12. Content and Variation of the Human Genome
Introduction: “The Genome Anatomy”
Special Genomic Structures Containing Selected Repeats
Chapter 13. Spectrum of Genetic Diseases and Management
Introduction
Molecular Approach to Genetic Disease Nosology
From Marfan Syndrome to Fibrillinopathies
The Emergence of RASopathies
Making a Diagnosis of a Genetic Disorder in the Era of Molecular Pathways
Conclusion
Chapter 14. Genomic Analysis in Clinical Practice: What Are the Challenges?
Introduction
Consent for Genome Testing in Clinical Practice
Incidental Findings
The Data Interpretation Problem
Conclusions
Chapter 15. Genomic Perspective of Genetic Counseling
Introduction
Ethos and Principles of Genetic Counseling
Elements of Genetic Counseling
Counseling Issues
Case Study
Practicalities of Counseling for Genomic Tests
Conclusion
Chapter 16. Genetics and Genomics of Reproductive Medicine and Health
Introduction
Female Infertility
Male Factor Infertility
Genetic Factors in In Vitro Fertilization
Recent Advances in Prenatal Diagnosis
Summary
Chapter 17. Stratified and Precision Medicine
Introduction
Molecular, Genetic, and Genomic Revolutions in Medicine
Personalized Medicine
Stratified Medicine
Summary
Chapter 18. Teaching and Training Medicine in Genomic Era
Introduction
Integration of Genomics into Medical Practice
Genomics and the Medical Education Landscape
Approaches to Medical Genomics Education
Conclusions and Final Comments
Chapter 19. Genomics, New Drug Development, and Precision Medicines
Introduction
Applying Genomics to Drug Discovery
Applying Pharmacogenetics to Drug Development
Predicting Safety
Summary
Chapter 20. Cancer Genetics and Genomics
Introduction
Inherited Cancers: Germ Line and Somatic
Genetic Testing in Cancer Predisposition Syndromes
Inherited Cancer Genes
Genetic Testing and Mainstreaming
Conclusion
Chapter 21. The Provision of Medical and Health Genetics and Genomics in the Developing World
Introduction
Public Health Programs in Genetics and Genomics
Medical Services Incorporating Genetics and Genomics
Summary
Chapter 22. Genomic Applications in Forensic Medicine
Introduction
The Basics of Next Generation Sequencing
Single Molecule Sequencing
Next Generation Sequencing Solutions in Forensic Genetics
Concluding Remarks
Chapter 23. Public and Population Health Genomics
Introduction
Breast Cancer
Colorectal Cancer
Crohn Disease
Alzheimer Dementia
Cystic Fibrosis
Cross-Cutting Issues of Population Genomics
Summary
Glossary: Medical and Health Genomics
Index
No. of pages: 358
Language: English
Edition: 1
Published: June 4, 2016
Imprint: Academic Press
Hardback ISBN: 9780124201965
eBook ISBN: 9780127999227
DK
Dhavendra Kumar
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 George’s 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 George’s Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.
Affiliations and expertise
Honorary Clinical Professor, William Harvey Research Institute, Queen Mary University of London, UK
SA
Stylianos Antonarakis
Affiliations and expertise
University of Geneva Medical School, Geneva, Switzerland