Essentials of Medical Genomics [Hardcover]

Stuart M. Brown (Author)

Book Description

ISBN-10: 047121003X | ISBN-13: 978-0471210030 | Publication Date: November 11, 2002 | Edition: 1

This introductory reference provides a practical, concise summary of everything a physician needs to know about genomics and emerging technologies. Through extensive illustrative examples, this book offers a clear and concise starting point to understanding how medicine has been, and will be, transformed by genomics and bioinformatics. Beginning with a clear overview on the Human Genome Project and its revolutionary impact, the book further investigates new technologies in detail, including: high-throughput DNA sequencing, genome sequence databases, microarrays, proteomics, pharmacogenomics, genetic testing, and gene therapy.

Editorial Reviews

From The New England Journal of Medicine

Though it might seem like the ultimate reductionist approach, the sequencing of the human genome is in fact a major advance toward achieving an integrated understanding of physiology. Contrary to the commonly used metaphor, a genome is not a ladder with genes as rungs. There is complexity to the structure and organization of the genome, just as there is complexity to the developmental, metabolic, and other pathways that make up biologic systems. Genomics, and its sibling proteomics, provide essential tools for moving beyond the characterization of individual components of these complex systems and beginning the task of understanding how they are put together to make cells, tissues, organisms, and populations. In Essentials of Medical Genomics, Stuart Brown provides a "philosophical definition" of genomics, calling it "a holistic or systems approach to information flow within the cell." Extreme claims, including both extravagant promises and dire warnings, have been made about the potential medical applications of genomics. There are already several molecular tests that are used routinely for diagnosis or risk assessment. As genomic approaches continue to help unravel pathophysiological mechanisms, new ways to diagnose and treat both rare and common disorders will emerge. It is becoming increasingly important to train physicians in this new discipline, in part to prepare them to use these new tools wisely and in part to allow recognition of clinical-research opportunities. The time is right to include genomics in the medical-education curriculum, and thus there is a need for books that can help guide the way. Essentials of Medical Genomics is a readable account of the underpinnings of genomics and its medical applications, with an intensive focus on technology. About a century of research on genetics and molecular biology is covered in the first chapter. Following that there is a tour through approaches to gene cloning, bioinformatics, the nature of genetic variation, pharmacogenetics, the use of microarrays, and proteomics. The author describes himself as a molecular biologist specializing in bioinformatics; he is not a physician. The two chapters that focus on medical applications -- one on genetic testing (by Harry Ostrer) and one on gene therapy (by John G. Hay) -- were contributed by physicians who are immersed in those disciplines. The chapter on gene therapy is a particularly lucid account that places the challenges and prospects of this difficult area into perspective. The final chapter of the book is devoted to ethical issues raised by genomics in medicine. The discussion is important, though parts of the chapter have a sermonic tone. Brown's book is based on an elective course on this topic taught by the author. As such, it may be understandable that some areas of importance are given only brief coverage or are not covered at all. Presumably these topics, such as patterns of inheritance and the molecular basis for dominant and recessive traits, are covered in a separate genetics course. Likewise, the principles of cancer genetics are not described, although related topics, such as the use of microarrays to classify tumors, are covered. There is a discussion of the use of genetic testing in presymptomatic diagnosis in persons at risk for cancer, but not of the concepts of nonpenetrance or tumor-suppressor genes. This narrow focus may be a handicap if the book is used as a stand-alone resource in a comprehensive course on genetics and genomics. This is a clearly written book that makes a complex discipline understandable. The emphasis is on broad concepts, with relatively little technical detail to distract the reader. The style is informal, even colloquial; for example, in referring to the development of the polymerase chain reaction, Brown writes, "A lot of scientists were slapping themselves on the forehead when Mullis picked up the Nobel prize in 1993." There are many illustrations, although most are of relatively simple design; little has changed from what were probably lecture slides. How much will physicians need to know about the technology of genomics in order to use this approach in their practice? Most are accustomed to ordering magnetic resonance imaging scans, yet very few could explain the physics involved. Probably not many physicians could explain how a complete blood count is now obtained, although most are familiar with the indications for obtaining it and its interpretations. The basic-science curriculum in medical education is predicated on the belief that some working knowledge of the underpinnings of a field is necessary for physicians to be sophisticated users of technology-intensive tests. Medical genomics is a nascent field, so it remains to be seen to what extent the technology will become submerged, leaving physicians to deal with a more user-friendly interface. Essentials of Medical Genomics provides an approachable introduction to a discipline that is likely to remain an engine of progress in medical science, at least through the coming generation. Bruce R. Korf, M.D., Ph.D.
Copyright © 2003 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.

Review

"…makes a complex subject accessible to medical students with a variety of backgrounds…" (American Journal of Medical Genetics, March 1, 2004)

"…this book is an excellent reference for medical students and physicians for the purpose of facilitating their learning about genomics and bioinformatics…also of great value to clinicians…" (Annals of Biomedical Engineering, October 2003)

"I would highly recommend this volume for clinical chemists, physicians, residents and students who are not currently engaged in genomics research but who desire a bird's eye view of the field.” (Clinical Chemistry, 50, No. 6, 2004)

"I enjoyed this book…because of its sensible approach and coverage, and I learned a lot from it…this book…should prove to be of value.” (Biochemistry and Molecular Education, March/April 2003)

"…an excellent reference for medical students and physicians…also of great value to clinicians…" (Annals of Biomedical Engineering, Issue 31:09)

"...useful to both medical students and physicians alike..." (Genomics and Proteomics, March 1, 2003)

"It will be quite useful to anyone from other fields who is interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics)

"...a good purchase for...academic or medical libraries as well as large public ones." (E-Streams, Vol. 6, No. 5, May 2003)

"readable account of the underpinnings of genomics and its medical applications...a clearly written book that makes a complex discipline understandable..." (New England Journal of Medicine, July 24, 2003)

"...quite useful to anyone…interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics, Vol. 72, 2003)

"...this book was exactly what I was looking for: a high-level overview of genomic technologies and their application...Brown’s book is highly recommended..." (Pharmaceutical Research, Vol. 20, No. 6, June 2003)

"...this was a very useful book...I will be glad to have it on my bookshelf..." (Human Genomics, January 2004)

See all Editorial Reviews

Product Details

• Hardcover: 296 pages
• Publisher: Wiley-Liss; 1 edition (November 11, 2002)
• Language: English
• ISBN-10: 047121003X
• ISBN-13: 978-0471210030
• Product Dimensions: 9.3 x 6.2 x 0.9 inches
• Shipping Weight: 1.3 pounds
• Average Customer Review: 4.9 out of 5 stars  See all reviews (7 customer reviews)
• Amazon Best Sellers Rank: #1,061,894 in Books (See Top 100 in Books)

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Most Helpful Customer Reviews

1 of 1 people found the following review helpful:

4.0 out of 5 stars many potential gains in treatment, October 25, 2006

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This review is from: Essentials of Medical Genomics (Hardcover)

If you are not a biologist or MD, and want to see where the application of genomics to medicine is going, try Brown's book. In clear language, he and other writers explain the key ideas and promises in this field. Like what can be done with massive genomic databases, by aiding the search for inherited diseases, and isolating these to certain places in the DNA.

One chapter looks at gene therapy. Currently, still mostly speculative. Much remains to be done to make it viable for many people. But this chapter is perhaps the most far reaching, if its potential can be fully realised. Related to this is another chapter about proteomics, which is another buzzword. We see that protein structures are another field, closely related, that also holds big promises for understanding and treatments.

0 of 1 people found the following review helpful:

5.0 out of 5 stars Useful Book, April 22, 2003

By A Customer

This review is from: Essentials of Medical Genomics (Hardcover)

"...useful to both medical students and physicians alike..." (Genomics and Proteomics, March 1, 2003)

0 of 1 people found the following review helpful:

5.0 out of 5 stars Essential Reading, January 2, 2003

By A Customer

This review is from: Essentials of Medical Genomics (Hardcover)

"Essentials of Medical Genomics is a wonderful treatment of the field, covering subjects ranging from the history of the human genome project to microarrays and bioinformatics. Brown has his genomics down pat, and I would consider this essential reading for anyone and everyone in the field." -Mark Schena, Ph.D., TeleChem/arrayit.com