Genomic and Personalized Medicine

Genomic and Personalized Medicine, 2nd Edition


Genomic and Personalized Medicine, 2nd Edition,Geoffrey Ginsburg,Huntington Willard,ISBN9780123822284

Ginsburg  &   Willard   

Academic Press



Winner of a Highly Commended BMA Medical Book Award for Medicine

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Key Features

  • Highly Commended 2013 BMA Medical Book Award for Medicine
  • More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition
  • Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics
  • Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine
  • Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis


Genomic and Personalized Medicine, Second Editionwinner 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.

Geoffrey Ginsburg

Dr. Ginsburg is the founding Director of the Center for Applied Genomics & Precision Medicine in the Duke Institute for Genome Sciences & Policy. He is also Professor of Medicine and of Pathology at Duke University Medical Center, Professor of Biomedical Engineering at Duke Pratt School of Engineering, and Co-Director of the Duke Translational Medicine Institute.

Affiliations and Expertise

Institute for Genome Sciences & Policy, Duke University, Durham, NC, USA

Huntington Willard


Huntington Willard is President and Director of the Marine Biological Laboratory and Professor of Human Genetics at the University of Chicago. Prior to his appointment at the MBL, Willard was on the faculty at Duke University, where he was founding director of the university-wide Duke Institute for Genome Sciences & Policy from 2003 to 2014, the Nanaline H. Duke Professor of Genome Sciences, and the Arts & Sciences Professor of Biology & Genome Sciences.

Affiliations and Expertise

President and Director, The Marine Biological Laboratory, Woods Hole, Massachusetts, and Professor of Human Genetics, University of Chicago, Chicago, IL, USA

View additional works by Huntington F Willard

Genomic and Personalized Medicine, 2nd Edition

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

Quotes and reviews

"I found this book fascinating. The review of the variation in the human genome is outstanding, and the coverage of epigenetics is unique and extremely useful for an understanding of the influence of the environmental factors on gene behavior…The book includes carefully selected illustrations of excellent quality. This is a well-designed publication that readers will find inviting." Rating: 4 Stars--Doody.com, March 21, 2014
"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

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