Genomic and Personalized Medicine

2nd Edition


Editor-in-Chiefs: Geoffrey Ginsburg Huntington Willard
Hardcover ISBN: 9780123822277
eBook ISBN: 9780123822284
Imprint: Academic Press
Published Date: 15th November 2012
Page Count: 1350
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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.

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


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.

Table of Contents






Volume 1

Chapter 1. The Human Genome: A Window on Human Genetics, Biology, and Medicine


The Human Genome

Variation in the Human Genome

Expression of the Human genome

Genes, Genomes, and Disease

From Genomes to Personalized Medicine



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


General Organization and Directives for ENCODE and Roadmap

Scientific Parameters and Elements of the Projects

Challenges and the Future


Recommended Resources

Chapter 3. Population Perspectives on Genome Variation and Complex Disease


Why Study Complex Disease in Populations?

What can be Studied? Phenotypes in Population Genomic Studies of Complex Disease

Human Population History and the Reservoir of Human Genome Sequence Variation

Human Genomes Contain Footprints of Human Evolution and the Human Past



Chapter 4. Gene–Environment Interactions: Eco-Genetics and Toxicogenomics



Methods to Study G × E Interactions


Pathogens and Host Susceptibility or Resistance Gene Variants

Inhaled Chemical Air Pollutants and Allergens and Sensitizing Agents

Examples of Risk Factors

Epigenomics and the Environment

Effects on Protein Folding

Toxicogenomics and Predictive Toxicology

Will Personalized Genomic Risk Profiles Motivate PEOPLE to Adopt More Healthful Behaviors?

Future Prospects: Balancing the Gxe Equation


Recommended Resources

Chapter 5. Systems Biology and Systems Medicine



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© Academic Press 2013
Academic Press
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About the Editor-in-Chief

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


BMA Medical Book Award 2013: Medicine - Highly Commended, British Medical Association


"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, 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