Human Genetics: A Problem-Based Approach, 2d ed.

Abstract

The second edition of this book is designed to give an overview of human genetics to individuals with little knowledge of the subject. As someone new to the field of human genetics, I find this book to be clear, enjoyable, and very informative. The organization of this book is what I find to be so appealing. Rather than present a dry progression of basic Mendelian principles through to modern human genetics, Dr. Korf uses case presentations to discuss relevant material. Through this approach, the author emphasizes selected disorders to illustrate genetic principles. Many aspects of human genetics, including clinical course of the disease, diagnostic methods, treatment options, and genetic-counseling issues, are covered for each case. The case presentations span several years of each patient’s life, allowing the author to discuss the complications that can develop over the years, the reproductive implications of a disorder, and the genetic-counseling issues for a patient's parents or siblings. The diagnostic methods and treatment options available at different times in the patient’s life are also explained, making it clear how progress in research directly affects clinical practice.One feature that I find to be particularly interesting is the “Perspective” article in each section; this feature exposes the reader to the personal side of human genetics. Written by patients or relatives of patients, these passages describe what it is like to have a certain disorder and how the disorder affects the patient's family. A new feature in the second edition of this book is the addition of a “Genetics in Medical Practice” section to each chapter. In these sections, such clinically relevant topics as medical histories, carrier screening, and chromosome analysis are discussed. Although brief, they do elucidate the technical aspects of the field of clinical genetics.A shortcoming of this book is the index. Because of the organization of the book, use of the index is often required to find information. However, the index is not always accurate, nor is it complete. Important terms such as “anticipation,” “penetrance,” and “microsatellite” are not listed in the index, although they are discussed in the text. For other terms, such as “Huntington disease” and “single-nucleotide polymorphisms,” not all of the correct page numbers are included in the index.I believe that there is a lack of sufficient emphasis on certain important principles in this book, although, admittedly, this remark is a common criticism of textbooks. In this instance, the importance of microsatellites and single-nucleotide polymorphisms in modern mapping strategies is not stressed, and the method for this type of mapping is not described thoroughly. Furthermore, since each case presentation is extensive, few disorders are described in detail.As an overview of human genetics, I think this book succeeds beautifully. This is a good starter book for studies of human genetics, but it does not cover introductory genetics in depth. Beginning medical students should find this book to be valuable. Graduate students studying human genetics will quickly progress past this book to more-advanced texts. However, nonclinicians should appreciate the book’s presentation of case-based genetics—an approach that highlights the applicability of genetics research. Although I think that a case-based method provides an interesting way to present basic material, some students may miss the central ideas that are crucial to the study of genetics. Sophisticated students will be able to translate the information provided into general principles, and this knowledge will be strengthened by the presentation of the application of these principles.