BOOK REVIEW

Abstract

H Chen, editor. Atlas of Genetic Diagnosis and Counseling. 1,076 pages. Totowa, NJ: Humana Press, 2005. ISBN 1-58829-681-4. Price: Hardback $245.00.. The Atlas of Genetic Diagnosis and Counseling is an ambitious effort to present sample information about 203 selected genetic disorders, malformations, and malformation syndromes in one book. The selection is based on the editor's own experience of many years in clinical genetics practice. Each disorder (discussed in alphabetical order from “acardia” to “XYY syndrome”) is briefly presented with the main characteristics and information about occurrence and, in some cases, history. Each disease is discussed under the following headings: “Genetics/Basic Defects”, “Clinical Features”, “Diagnostic Investigations”, “Genetic Investigations”, “Genetic Counseling”, and “References”. Several color photographs at the end of each discussion illustrate clinical features in different patients and a list of references follows. The “Genetics/Basic Defects”, “Clinical Features”, “Diagnostic Investigations”, “Genetic Investigations”, and “Genetic Counseling” sections are constructed as schedules, which are subdivided into subgroups and sub-subgroups with facts. The reader who is not used to working with this kind of presentation of material may at first find it hard to choose between all the alternatives listed. Also, the large number of facts presented may appear hard to sort out. However, the concentration of information is necessary to prevent the book from being too big and unwieldy and the reader will find that a few trials will suffice to get used to the presentation. In fact, it is fairly simple to find one's way through the schedules once one is familiar with the method used here. In order to fully utilize the information in this book the reader must be a professional in medical care with a sound knowledge of the field of clinical genetics. Because of its format this book is probably best suited for a library such as an institution or hospital library. The Atlas of Genetic Diagnosis and Counseling is also available in a CD-ROM edition, which may be a more practical format. When used in combination with a database such as the OMIM™ (online Mendelian inheritance in man) database (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM), the Atlas of Genetic Diagnosis and Counseling will be useful for professionals working with genetic counseling. Owing to intense research, new knowledge about many of the selected genetic disorders is constantly being produced. Therefore a possible drawback of having the information in book form is that this kind of information continually needs to be upgraded. The uniqueness of the book, however, lies in the sections titled, “Genetic Counseling” and “Diagnostic Investigations”, as well as the photographs, which make this book useful as a reference book in an institution library and also in clinical practice.