Genomic and Personalized Medicine book cover

Genomic and Personalized Medicine


Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine.

With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003.

Specialists across medical disciplines, research professionals in human genetics/genomics, oncology, neuroscience, gene therapy, molecular medicine, and related areas. It will be indispensable to medical students and graduate students in genetics and biomedical sciences.

Hardbound, 1350 Pages

Published: November 2012

Imprint: Academic Press

ISBN: 978-0-12-382227-7


  • "The first volume covers the principles of human genomics and of genome-based approaches to medicine, as well as the enabling and integration of genomic strategies, clinical research, and informatics (including policy challenges). The 58 chapters in the second volume are devoted to the specifics of approaches to particular diseases- cardiovascular, cancer, inflammatory and metabolic, neuropsychiatric, and infectious."--Reference & Research Book News, October 2013
    "Publication of this second edition of Genomic and Personalized Medicine 2nd edition occurs roughly nine and half years  after the official completion of the Human Genome Project in April 2003. That monumental, international, and historic Project catapulted forward the fields of genetics and genomics at a pace that only the most optimistic scientific leaders realistically envisioned at that time. Indeed, it is truly stunning to consider what has been accomplished in the past nine-plus years, especially with respect to accomplishments relevant to genomic and personalized medicine. These ~100 chapters elegantly showcase the depth and breadth of this rapidly growing area of biomedicine. Once again, Ginsburg and Willard have recruited an impressive cast of geneticists and genomicists to contribute chapters spanning a wide spectrum of topics - from fundamentals in genomics research to key clinical areas that represent some of the ‘lowest hanging fruit’ in terms of opportunities to have genomics change medical practice. Together, these chapters provide unequivocal evidence about the current state of genomic and personalized medicine - that the opportunities are breathtaking, that the challenges are immense, and that the potential to improve health is nearly unlimited."--Eric Green MD, PhD, Director, NHGRI
    "This is the definitive textbook providing the content for a new era of medicine. An era where disease is defined at the molecular level rather than the anatomic level; where therapies are individualized and targeted rather than uniformly applied across a population. We have an opportunity with this text to improve patient outcomes using new tools and strategies, which is certainly an exciting prospect for each of us. This text should be mandatory reading for every physician, or physician in training."--Dietrich Stephan, President and CEO of Silicon Valley Biosystems, Co-Founder of Navigenics, Board of Directors of Personalized Medicine Coalition
    [on the first edition] "With genetic discoveries being published weekly, and increasing efforts to translate genomics to the clinic, there is a pressing need to educate medical students, physicians ad policy-makers on the emerging discipline of genomic medicine. This valuable book is first of its kind, offering a comprehensive overview of the field's foundations, applications to each area of medicine, and translation into clinical medicine and policy."--David Altshuler MD, PhD, Professor of Genetics and Medicine, Harvard Medical School, Massachusetts General Hospital


  • Part I. Genome-Based Approaches to Biology and Medicine

    Principles of Human Genomics

    1. Organization, Variation and Expression of the Human Genome

    2. Mapping the Funcational Genome: The ENCODE and Roadmap Epigenomics Projects

    3. Population Perspectives on Genome Variation and Complex Disease

    4. Gene-Environment Interactions: Eco-genetics and Toxicogenomics

    5. Systems Biology and Systems Medicine

    Genome-Based Approaches for Genomic and Personalized Medicine

    6. Personal Genomics

    7. Whole genome sequencing: new technologies, approaches, applications

    8. Human Genome Variation Discovery via Exome and Whole-Genome Sequencing

    9. Clinical Genome Sequencing

    10. Structural Genomic Variation in the Human Genome

    11. Clinical applications of whole-genome chromosomal microarray analysis

    12. Transcriptomics in the age of ultra high-throughput sequencing

    13. Quantitative Proteomics in Genomic Medicine

    14. The Human Microbiome and Personalized Medicine

    15. Glycomics, glycobiology, glycomedicine

    16. Genome-wide RNA Interference Screening

    Part II. Translational Approaches in Genomic and Personalized Medicine

    Enabling Genomic Strategies, Clinical Research, and Informatics Platforms for Genomic and Personalized Medicine

    17. Application of Human Genome Information to Clinical Practice

    18. Genomic and Personalized Medicine and Public Health View

    19. Biospecimen Banking in the Post Genome Era

    20. Designing Genome-Based Clinical Studies

    21. Genomic Biomarkers in Human Population Studies

    22. Validating Candidate Protein Biomarkers

    23. Translational Bioinformatics for Genomic Medicine 

    24. Electronic Health Records and Genomic Medicine

    25. Clinical Implementation of Genomic Medicine in Primary Care

    26. Health Risk Assessment and Family History

    27. Clinical Decision Support

    28. Knowledge Management in Personalized Health Care

    29. Integration into Healthcare Systems

    30. Pharmacogenomics in Drug Discovery and Development

    31. Pharmacogenetics and Pharmacogenomics

    32. Point of Care Devices

    33. Patient-specific Pluripotent Stem Cells

    Policy Challenges in Genomic and Personalized Medicine

    34. Overview of Policy, Ethical and Social Considerations

    35. Informed Consent

    36. Educational Issues and Strategies for Genomic Medicine

    37. Regulation of Genomic Technologies

    38. Challenges and Regulation of Direct to Consumer Genetic Testing

    39. Economics of Genomic Medicine

    40. trategies in the Adoption of Genome-Based Diagnositics

    41. Reimbursement

    42. Impact of Patents on Genomic Medicine

    43. Public-Private Partnerships in Biomarker Discovery and Development

    Part III. Disease-Based Genomic and Personalized Medicine: Genome Discoveries & Clinical Significance

    Cardiovascular Genomic Medicine

    44. Hypertension

    45. Lipoprotein Disorders

    46. Coronary Artery Disease and Myocardial Infarction

    47. The Vulnerable Plaque and Acute Coronary Syndromes

    48. Heart Failure

    49. Cardiac Transplant Rejection

    50. Hypertrophic Cardiomypoathies

    51. Arrhythmias

    52. Hemostasis and Thrombosis

    53. Peripheral Afterial Disease

    54. Congenital Heart Disease

    55. Perioperative Genomics

    56. Stroke

    Oncology Genomic Medicine

    57. Lymphomas

    58. Leukemias

    59. Genomics of Lung Cancer

    60. Breast Cancer

    61. Ovarian Cancer

    62. Colorectal Cancer

    63. Prostate Cancer

    64. Head and Neck Cancer

    65. Brain Tumors and Gilomas

    66. Melanoma

    67. Metastatic Cancer

    68. Bioinformatics and Personalized Cancer Care

    69. Diagnostic-Therapeutic Combinations

    Inflammatory and Metabolic Disease Genomic Medicine

    70. Autoimmune Disorders

    71. Rheumatoid Arthritis

    72. Multiple Sclerosis

    73. Inflammatory Bowel Disease

    74. Asthma

    75. Chronic Obstructive Pulmonary Disease

    76. Interstitial Lung Disease

    77. Peptic Ulcer Disease

    78. Cirrhosis

    79. System Sclerosis

    80. Lupus

    81. Osteoarthritis

    82. Diabetes Genomics

    83. The Metabolic Syndrome

    Neuropsychiatric Disease Genomic Medicine

    84. Overview of Neuroscience and Genomics

    85. Alzheimers Disease

    86. Parkinson's Disease

    87. Epilepsy

    88. Schizophrenia and Bipolar Disorder

    89. Depression

    90. Autism

    91. Overview of Eye Disease and Genomics

    92. Glaucoma

    Infectious Disease Genomic Medicine

    93. Diagnosis and Classification of Pathogens

    94. Host-Pathogen Interactions

    95. Microbial Vaccine Development

    96. Bacterial Infections

    97. Emerging Viral Infections

    98. Sepsis

    99. Viral Hepatitis

    100. Malaria

    101. HIV Pharmacogenetics and Pharmacogenomics


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