Oxford Desk Reference Clinical Genetics: An Essential Guide

ISBN: 9780192628961
ISBN-10: 0192628968
Copyright: 2005
Edition: 1st
Editor: Firth, Helen V., Hurst, Jane A.,
Doody's Expert Review    Score: 91
Reviewer: Luis Escobar,  MD, MS  (Peyton Manning Children's Hospital)
Description
This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clinical geneticists who require a fast review of specific genetic subjects while performing clinical consultations. Drs. Firth and Hurst have summarized each subject in a brief, concise manner allowing review of only pertinent clinical information. This is the first edition of a wonderful tool for clinical geneticists. It provides a glossary separated by dysmorphology, common terms in genetics, and a list of abbreviations used in the field. The organization of the index by systems makes searching for specific information easy to do.
Purpose
The purpose is to provide clinicians in medical genetics with a tool to easily review specific subjects in the field. It is oriented to provide basic highlights of each subject and help to direct patient care with a systematic approach. This is not a study book but a formidable consultation tool. The objectives are well met. Condensation of the amount of information included in this wonderful book could not be done any better.
Audience
This is directed to the professional in medical genetics with an emphasis on clinical practice. The nature of the book, which consists of specific summaries of clinical subjects, requires a basic degree of clinical knowledge. This is a most-have tool for all clinical geneticists who require quick and specific reviews in clinical practice. It also represents a great tool for medical genetics residents and fellows who are in the process of learning the practice of medical genetics.
Features
This is a fantastic guide for clinicians involved in the management of genetic patients. Although it reviews basic genetic information the strongest emphasis is on patient care. The review by systems and signs with the provision of differential diagnosis for each clinical finding is a tremendous tool. It provides fascinating sections on common consultations, cancer, pregnancy and fertility in addition to the clinical approach to cytogenetic patients. Separating the glossary of terms used in dysmorphology from a second glossary of terms used in genetics is a wonderful idea. One of the most useful features is the system-based contents index, which makes searching for specific information easy. The book presents the information by highlighted summaries of specific clinical subjects. It is not expected to review controversies but to provide specific, well established information that would guide clinicians through patient management.
Assessment
Dr. Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better. The magnificent work done with this book and the marvelous presentation of the information suggest that as the field of clinical genetics expands, further editions will be needed. This is a must have book, and a second edition would be expected.
Review Questionnaire
Range Question Score
1-10 Are the author's objectives met? 10
1-10 Rate the worthiness of those objectives. 10
1-5 Is this written at an appropriate level? 5
1-5 Is there significant duplication? (1=significant, 5=insignificant) 5
1-5 Are there significant omissions? (1=significant, 5=insignificant) 4
1-5 Rate the authority of the authors. 4
1-5 Are there sufficient illustrations? 5
1-5 Rate the pedagogic value of the illustrations. 4
1-5 Rate the print quality of the illustrations. 4
1-5 Are there sufficient references? 5
1-5 Rate the currency of the references. 3
1-5 Rate the pertinence of the references. 3
1-5 Rate the helpfulness of the index. 5
1-5 If important in this specialty, rate the physical appearance of the book N/A
1-10 Is this a worthwhile contribution to the field? 10
1-10 If this is a 2nd or later edition, is this new edition needed? N/A