Essentials of Medical Genomics

From The New England Journal of MedicineThough 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 illust
Author: Brown, Stuart M.

Publisher: Wiley-Liss

Binding: Hardcover

Language: English

ISBN-10: 047121003X

ISBN-13: 9780471210030