Essentials of Medical Genomics

Brown, S. M.; Wiley-Liss, Hoboken, New Jersey, 2003, 274 pp., ISBN 0-471-21003-X, $44.95.

This is a timely book that provides, at an introductory level, the essentials on medical genomics, here defined as that field that attempts “to combine knowledge generated from the Human Genome Project and analytical methods from bioinformatics with the practice of medicine.” Indeed, so rapidly is the use of computer- and molecular biology-based technology for the acquisition, management, and analysis of biological information progressing that, in his preface, Brown predicts that in 5 years the reader will need to replace this book with “a new one to remain abreast of the new technologies coming on the horizon.”

A bioinformatics consultant and associate professor at New York University School of Medicine, the author has taught a course on medical genomics to the medical students there. The book is based on that course and is aimed mostly at such students and at practicing physicians who have to deal with the practical and ethical issues involved in genetic testing and the counseling that is closely associated with it. Other students of human biology or those interested in genomics (a veritable buzz word on campuses these days) should find what it offers about the possibilities opened up by the Human Genome Project to be of great interest.

The two opening chapters embody the very basic principles of genetics, biochemistry, and molecular biology on which the book's subject is heavily dependent. The students at whom the book is aimed should already have mastered these. The remaining nine chapters provide easy to read and interesting presentations on bioinformatics tools (Chapter 3), genome databases (4), human genetic variation (5), microarrays (8), pharmacogenomics and toxicogenomics (9), proteomics (10), and ethics of medical genomics (11). The two middle chapters deal with genetic testing (6), which is contributed by H. Ostrer, and with gene therapy (7), which is contributed by J. G. Hay. All of these chapters are well written, easy to follow, and concerned with the great potential of the current methodology as well as with its limitations They provide URLs for a variety of important databases. It would have been convenient if these were collected and presented in an appendix. Each chapter ends with a brief list of references, some as recent as 2002. A glossary (about 150 entries, mostly of scientific terms but also of databases and search engines) and a 14-page two-column index complete the contents.

I enjoyed this book (despite the minor spelling and biochemical errors that it contains) because of its sensible approach and coverage, and I learned a lot from it (since it required very little of my very shallow knowledge of IT technology). Until what it contains becomes a component of the preparation in molecular genetics available to medical students and other interested students of human biology, this book, and probably its eventual successor, should prove to be of value. I hope that its price will not be a deterrent to those who need it now.