Medical and Health Genomics

Dhavendra Kumar, Stylianos Antonarakis

• Publisher: Academic Press
• Year: 2016
• ISBN:
  9780127999227
• Topic: Biological Sciences
• Subtopic: Genetics & Genomics
• Index: Biological Sciences

Medical and Health Genomic s 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

Chapter 1

The Human Genome

D. Kumar^{1,2 1}The University of South Wales, Pontypridd, Wales, United Kingdom ²Cardiff University School of Medicine, University Hospital of Wales, Cardiff, United Kingdom

Abstract

New discoveries and innovations in biological and life sciences during the five decades before the 21st century have centered on genetics and genomics. It took just over 50 years after the unraveling of the structure of the molecule of nucleic acids, the key unit of the biological life, for scientists to embark on sequencing the major entire genetic constitution or genome of many single-cell and large mammalian creatures including man. The word genome includes gene and -ome, implying complete knowledge of all genes and related elements in any single organism. Inevitably, this led to enthusiastic expansion of the whole science and thence to the emergence of genomics. The suffix -omic, derived from the ancient Greek, refers to in-depth knowledge. Not surprisingly, genomics was followed by a plethora of related -omics; for example, proteomics, metabolomics, transcriptomics, and so on. Currently, we have over 30 such disciplines with the -omics suffix. Developments and advances in genetics have led to a better understanding of genomic variation, the principles governing heredity and the familial transmission of physical characteristics and diseases, in-depth understanding of the pathophysiology of diseases, the development of new methods of clinical and laboratory diagnosis, and innovative approaches to making early diagnoses (eg, prenatal diagnoses and newborn screening) and offering reproductive choices, including preimplantation genetic diagnoses. All these developments are now accepted within the broad fields of human genetics, medical genetics, clinical genetics, genetic medicine, and the new emerging field of genomic medicine. Not surprisingly, the field remains wide open, encompassing the massive field of human genomics, broadly focusing on medical and health genomics. This chapter leads the book, providing the basic factual information for grasping the concepts of human heredity, genes, genetics, and genomics. It is expected that the reader will proceed to subsequent chapters better equipped with the introduction to genetic/genome sciences as applied to humans, specifically genetic diseases, genetics, and genomics in medicine; public health; and specific issues related to society, ethics, and law.

Keywords

Bioinformatics; DNA; Gene; Genome; Genomic variation; Genomics; Heredity; Mitochondrial genome; Nuclear genome; Nucleic acids; Proteomics; RNA; Transcriptomics

Chapter Outline

Introduction 1

Hereditary Factors, Genes, Genetics, and Genomics 1

Structure and Organization of Nucleic Acids 2

Human Genome Variation and Human Disease 5

Measuring Genetic and Genomic Variation 6

Genome Variation and Human Disease 7

The Mitochondrial Genome 8

Functional Genomics, Transcriptomics, and Proteomics 9

Translational Human Genomics 10

Human Genomics for Socioeconomic Development 11

Conclusions 12

References 12

Introduction

Toward the end of the last millennium, tremendous growth in the sophistication of the biological sciences was harnessed in medicine, the food industry, and related bioindustries. New discoveries and innovations in biological sciences during the five decades leading up to the 21st century have centered on genetics and genomics. It took just over 50 years after the unraveling of the structure of the molecule of nucleic acids, the key unit of the biological life, for scientists to embark on sequencing of major organisms’ entire genetic constitution or genome. The word genome includes gene and -ome, implying complete knowledge of all genes and related elements in any single organism. Inevitably, this led to enthusiastic expansion of the whole science and thence to the emergence of genomics [1]. The suffix -omic, derived from the ancient Greek, refers to in-depth knowledge. Not surprisingly, genomics was followed by a plethora of related -omics; for example, proteomics, metabolomics, transcriptomics, and so on [2]. Currently, we have over 30 such disciplines with the -omics suffix.

The ultimate goal of any scientific discipline is its translation for the benefit of all humans, crossing all possible barriers and boundaries. Major advances in medicine and health were only possible through understanding basic principles and mechanisms underlying disease processes. This was facilitated by rapid applications of physical and chemical sciences in medicine and health; for example, radiographical diagnosis, ultrasound diagnosis, microbiology diagnosis, immunohistochemical diagnosis, and finally, molecular diagnosis. Developments and advances in genetics have led to a better understanding of the principles governing heredity and the familial transmission of physical characteristics and diseases, better understanding of the pathophysiology of diseases, the development of new methods of clinical and laboratory diagnosis, and innovative approaches to making early diagnoses (eg, prenatal diagnoses and newborn screening) and offering reproductive choices, including preimplantation genetic diagnoses. All these developments are now accepted within the broad fields of human genetics, medical genetics, clinical genetics, genetic medicine, and the new emerging field of genomic medicine. Not surprisingly, the field remains wide open, encompassing the massive field of human genomics, broadly focusing on medical and health genomics [3].

This chapter leads the book, providing the basic factual information for grasping the concepts of heredity, genes, genetics, and genomics. It is expected that the reader will proceed to subsequent chapters better equipped with the introduction to genetic/genome sciences, genetic diseases, genetics and genomics in medicine, applications in public health, and specific issues related to society, ethics, and law [4].

Hereditary Factors, Genes, Genetics, and Genomics

The concepts of heredity and hereditary factors date back several hundred and probably even thousands of years. The popular darwinian theory of natural selection rests on the core concept of the transmission of hereditary factors[5]. For several thousand years, various descriptions and explanations have been put forward to define the physical shape and functional nature of hereditary factors. In the historical context, the concept of the gene was introduced only recently as the most acceptable answer to explain one of the hereditary factors. However, it remains unclear when and by whom this term was first introduced. It does not matter, as the term gene (from the Greek genos, race) is now universally accepted and used in the context of understanding heredity and hereditary factors, and is probably the single most important biological factor regulating biological life, ranging from single-cell...

Table of contents

• Cover image
• Title page
• Table of Contents
• Medical and Health Genomics
• Dedication
• Copyright
• List of Contributors
• Foreword
• Preface
• Chapter 1. The Human Genome
• Chapter 2. Genomic Technologies in Medicine and Health: Past, Present, and Future
• Chapter 3. Genomic Databases, Access Review, and Data Access Committees
• Chapter 4. Diagnostic Genomics and Clinical Bioinformatics
• Chapter 5. Epigenetics and Epigenomics in Human Health and Disease
• Chapter 6. Mitochondrial Genomics: Emerging Paradigms and Challenges
• Chapter 7. The Significance of Metabolomics in Human Health
• Chapter 8. Microbial Genomics: Diagnosis, Prevention, and Treatment
• Chapter 9. A Metagenomic Insight Into the Human Microbiome: Its Implications in Health and Disease
• Chapter 10. Pharmacogenetics and Pharmacogenomics
• Chapter 11. Medical and Health Aspects of Genetics and Genomics
• Chapter 12. Content and Variation of the Human Genome
• Chapter 13. Spectrum of Genetic Diseases and Management
• Chapter 14. Genomic Analysis in Clinical Practice: What Are the Challenges?
• Chapter 15. Genomic Perspective of Genetic Counseling
• Chapter 16. Genetics and Genomics of Reproductive Medicine and Health
• Chapter 17. Stratified and Precision Medicine
• Chapter 18. Teaching and Training Medicine in Genomic Era
• Chapter 19. Genomics, New Drug Development, and Precision Medicines
• Chapter 20. Cancer Genetics and Genomics
• Chapter 21. The Provision of Medical and Health Genetics and Genomics in the Developing World
• Chapter 22. Genomic Applications in Forensic Medicine
• Chapter 23. Public and Population Health Genomics
• Glossary: Medical and Health Genomics
• Index