Medical and Health Genomics

Medical and Health Genomics

1st Edition - June 4, 2016

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  • Editors: Dhavendra Kumar, Stylianos Antonarakis
  • Hardcover ISBN: 9780124201965
  • eBook ISBN: 9780127999227

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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.

Key Features

  • 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

Table of Contents

    • 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

Product details

  • No. of pages: 358
  • Language: English
  • Copyright: © Academic Press 2016
  • Published: June 4, 2016
  • Imprint: Academic Press
  • Hardcover ISBN: 9780124201965
  • eBook ISBN: 9780127999227

About the Editors

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

Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales, UK; Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, UK

Stylianos Antonarakis

Affiliations and Expertise

University of Geneva Medical School, Geneva, Switzerland

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