Abstract

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.

• 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

"Publication of this second edition of Genomic and Personalized Medicine 2^nd 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