Genomic and personalized medicine

Contents in Brief 15. Comprehensive Metabolic Analysis for Understanding of Disease Mechanisms 180 16. Comprehensive Analysis of Gene Function: RNA interference and Chemical Genomics 193 Section 3 Informatic and Computational Platforms for Genomic Medicine 205 17. Bioinformatic and Computational Analysis for Genomic Medicine 206 18. Fundamentals and History of Informatics for Genomic and Personalized Medicine 226 19. Electronic Medical Records in Genomic Medicine Practice and Research 233 20. Clinical Decision Support in Genomic and Personalized Medicine 242 21. Online Health Information Retrieval by Consumers and the Challenge of Personal Genomics 252 PART II TRANSLATIONAL APPROACHES IN GENOMIC AND PERSONALIZED MEDICINE Section 4 Enabling Strategies in the Translation of Genomics into Medicine 261 22. Translational Genomics: From Discovery to Clinical Practice 262 23. Principles of Study Design 275 24. Biobanking in the Post-Genome Era 284 25. Application of Biomarkers in Human Population Studies 299 26. Validation of Candidate Protein Biomarkers 308 27. Pharmacogenetics and Pharmacogenomics 321 28. The Role of Genomics and Genetics in Drug Discovery and Development 335 29. Role of Pharmacogenomics in Drug Development 343 30. Clinical Implementation of Translational Genomics 357 31. Translating Innovation in Diagnostics: Challenges and Opportunities 367 32. The Role of Genomics in Enabling Prospective Health Care 378 Foreword xxv Preface xxvii Acknowledgements xxix Abbreviations xxxi Advisory Board xxxix Contributors xli PART I GENOMIC APPROACHES TO BIOLOGY AND MEDICINE Section 1 Principles of Human Genomics 3 1. Organization, Variation and Expression of the Human Genome as a Foundation of Genomic and Personalized Medicine 4 2. Concepts of Population Genomics 22 3. Genomic Approaches to Complex Disease 33 4. Human Health and Disease: Interaction Between the Genome and the Environment 47 5. Epigenomics and its Implications for Medicine 60 6. Systems Biology and the Emergence of Systems Medicine 74 Section 2 Technology Platforms for Genomic Medicine 87 7. DNA Sequencing for the Detection of Human Genome Variation and Polymorphism 88 8. Genome-Wide Association Studies and Genotyping Technologies 101 9. Copy Number Variation and Human Health 108 10. Inter-Species Comparative Sequence Analysis: A Tool for Genomic Medicine 120 11. DNA Methylation Analysis: Providing New Insight into Human Disease 131 12. Transcriptomics: Translation of Global Expression Analysis to Genomic Medicine 143 13. DNA Microarrays in Biological Discovery and Patient Care 157 14. Proteomics: The Deciphering of the Functional Genome 173 v Section 5 Policy Challenges in Genomic and Personalized Medicine 387 33. From Sequence to Genomic Medicine: Genome Policy Considerations 388 34. Educational Strategies in Genomic Medicine 401 35. Federal Regulation of Genomic Medicine 414 36. Economic Issues and Genomic Medicine 424 37. Public–Private Interactions in Genomic Medicine: Research and Development 434 Section 6 Genomic Medicine and Public Health 445 38. What Is Public Health Genomics? 446 39. Why Do We Need Public Health in the Era of Genomic Medicine? 454 40. Principles of Human Genome Epidemiology 461 41. Genomics and Population Screening: Example of Newborn Screening 470 42. Family History: A Bridge Between Genomic Medicine and Disease Prevention 481 Section 7 Clinical Technologies Supporting Personalized Medicine 493 43. Molecular Imaging as a Paradigm for Genomic and Personalized Medicine 494 44. PET Imaging in Genomic Medicine 500 45. MRI for Molecular Imaging Applications: Overview, Perspectives, and Challenges 512 46. Fluorescence Imaging: Overview and Applications in Biomedical Research 524 47. Imaging Genetics: Integration of Neuroimaging and Genetics in the Search for Predictive Markers 532 48. Viral Chip Technology in Genomic Medicine 538 49. Vaccines Against Infectious Diseases: A Biotechnology- Driven Evolution 562 50. Cancer Vaccines: Some Basic Considerations 573 51. Biosensors for the Genomic Age 590 52. Stem Cells 599 53. Gene Therapy 610 PART III DISEASE-BASED GENOMIC AND PERSONALIZED MEDICINE: GENOME DISCOVERIES AND CLINICAL APPLICATIONS Section 8 Cardiovascular Genomic Medicine 623 54. The Genomics of Hypertension 624 55. Lipoprotein Disorders 634 56. Reactive Oxygen Species Signals Leading to Vascular Dysfunction and Atherosclerosis 652 57. Genomics of Myocardial Infarction 665 58. Acute Coronary Syndromes 680 59. Heart Failure in the Era of Genomic Medicine 692 60. Application of Genomic Methodology for Assessment of Cardiac Transplant Rejection 705 61. Hypertrophic Cardiomyopathy in the Era of Genomic Medicine 716 62. Genetics and Genomics of Arrhythmias 729 63. Hemostasis and Thrombosis 755 64. Peripheral Arterial Disease 773 65. Genomics of Congenital Heart Disease 781 66. Genomics of Perioperative and Procedural Medicine 794 Section 9 Oncology Genomic Medicine 807 67. Cancer Genes, Genomes, and the Environment 808 68. Immune Cells and the Tumor Microenvironment 818 69. Lymphomas 830 70. Genomics in Leukemias 844 71. Genomics of Lung Cancer 856 72. Breast Cancer and Genomic Medicine 869 73. Colorectal Cancer 879 74. Prostate Cancer 898 75. Molecular Biology of Ovarian Cancer 913 76. Pancreatic Neoplasms 921 77. The Multiple Endocrine Neoplasia Syndromes 931 78. Genomics of Head and Neck Cancer 945 79. Genomic Medicine, Brain Tumors and Gliomas 956 80. Molecular Therapeutics of Melanoma 967 81. Emerging Concepts in Metastasis 977 82. Diagnostic-Therapeutic Combinations in the Treatment of Cancer 990 Section 10 Infl ammatory Disease Genomic Medicine 1009 83. Environmental Exposures and the Emerging Field of Environmental Genomics 1010 84. Molecular Basis of Rheumatoid Arthritis 1017 85. “Omics” in the Study of Multiple Sclerosis 1032 86. Infl ammatory Bowel Disease 1040 87. Glomerular Disorders 1056 88. Spondyloarthropathies 1067 89. Asthma Genomics 1084 90. Genomic Aspects of Chronic Obstructive Pulmonary Disease 1098 91. Genomic Determinants of Interstitial Lung Disease 1110 92. Peptic Ulcer Disease 1122 93. Cirrhosis in the Era of Genomic Medicine 1138 94. Systemic Sclerosis 1155 Section 11 Metabolic Disease Genomic Medicine 1169 95. Genomic Medicine of Obesity 1170 96. Diabetes 1187 97. Metabolic Syndrome 1194 98. Nutrition and Diet in the Era of Genomics 1204 vi ■ Contents in Brief Section 12 Neuropsychiatric Disease Genomic Medicine 1221 99. The Genetic Approach to Dementia 1222 100. Parkinson’s Disease: Genomic Perspectives 1233 101. Epilepsy Predisposition and Pharmacogenetics 1243 102. Ophthalmology 1256 103. Genomic Basis of Neuromuscular Disorders 1265 104. Psychiatric Disorders 1282 105. Genomics and Depression 1289 106. Bipolar Disorder in the Era of Genomic Psychiatry 1299 Section 13 Infectious Disease Genomic Medicine 1313 107. Genomic Approaches to the Host Response to Pathogens 1314 108. Genomic Medicine and Aids 1324 109. Viral Genomics and Antiviral Drugs 1340 110. Host Genomics and Bacterial Infections 1347 111. Sepsis and the Genomic Revolution 1362 112. Diagnosis, Management and Disease Mechanisms of Hepatitis in the Era of Genomic Medicine 1375 Glossary 1391 Index 1407