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Doody's Review ServiceReviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This pocket guide to medical genetics for primary care physicians provides essential information for the understanding of genetic disorders as well as basic facts to help guide the initial management of affected individuals.
Purpose: The authors meet their objectives, providing a portable, easy to read guide that can be used as a quick reference in the clinical setting and as an educational source for practitioners who are not geneticists. It provides appropriate, up-to-date advice on when and why patients should be referred to a genetics service.
Audience: Medical students, primary care physicians, and nurse practitioners should have this book, which has information on common disorders seen in primary care such as atopy, ankylosing spondylitis, deafness, diabetes, and dementia. Clearly, maternal-fetal medicine specialists, general obstetricians, and prenatal genetics counselors will find this guide useful as a quick reference to facts that will help them in their daily practice.
Features: After a brief description of the basic concept of clinical genetics, the book provides detailed advice on why, when, and how to refer patients to a genetics service. Each section of every chapter includes a consultation plan for primary care providers that will help in the proper initial management of a patient suspected to have a genetic condition. I found particularly interesting the chapter on sudden cardiac death, a topic of recent interest due to the recognition of specific molecular defects as etiologic factors in disorders such as prolonged QT syndrome. Illustrations are well designed and appropriate, and the glossary and index are helpful.
Assessment: This handbook has a big advantage over other attempts at genetics pocket guides. While most publications attempt to be all inclusive, this wonderful guide provides information about the common disorders likely to be seen in primary care practice and leaves out rare disorders that are the domain of specialists.