New Clinical Genetics - Softcover

Andrew Read; Dian Donnai

Softcover

ISBN 10: 1904842313 ISBN 13: 9781904842316

Publisher: Scion Publishing Ltd, 2006

Synopsis

Aimed at medical students, genetic counsellors and clinical geneticists, this book provides the reader with a concise summary of post-genomic human genetics and guidance as to how our current understanding can be utilized in clinical practice. The book links genetics and clinical practice throughout using realistic case scenarios which are discussed throughout the book. Readers can take a problem-based approach to learning by working through each of the cases, or a more conventional approach by tackling each of the chapters in the order dictated by their course. The authors have based the book around the requirements of the NHS genetics education centre and the ASHG: which state that ' every physician who practices in the 21st century must have an in-depth knowledge of the principles of human genetics and their application to a wide variety of clinical problems' . The book benefits from a carefully designed format and layout to aid understanding. Each chapter includes self-assessment questions, separate boxes containing diagnostic methods and approaches, and common disease boxes. There are over 300 clinical photograph and figures, to further illustrate the points being discussed. Printed in full-colour throughout Contents: 1. What can we learn from a family history?; 2. How can a patient' s chromosomes be studied?; 3. How do genes work?; 4. How can a patient' s DNA be studied?; 5. How can we check a patient' s DNA for gene mutations?; 6. What do mutations do?; 7. What is epigenetics?; 8. How do genes affect our metabolism, drug responses and immune system?; 9. How do researchers identify genes for mendelian diseases?; 10. Why are some conditions common and others rare?; 11. When is screening useful?; 12. Is cancer genetic?; 13. Should we be testing for genetic susceptibility to common disease?; 14. What can we do about genetic disease?; Glossary. Other titles of interest: Puzzles for Medical Students, by Ranjita Howard (ISBN 9781904842348); Medical Statistics Made Easy, by M. Harris and G. Taylor (ISBN 9781904842552)

About this title

Review:

I just taught with this text. It is the best text I have seen. The relevance of genetics to human medicine was apparent and it really caught the interest of the students without watering things down to the point where there were clinical vignettes, but no substantial learning opportunities in genetics to build the foundation that our students need. My hat is off to the authors and their unique design. We will certainly use the book again. Geoffrey Kapler, Texas A&M Health Science Center --Geoffrey Kapler, Texas A&M Health Science Center

The diagnostic procedures on patients and deep thoughts about apparently simple problems are the baselines of this excellent book... European Journal of Human Genetics --European Journal of Human Genetics

The case studies emphasize the important and complex role of the clinical geneticist, something which many, even those otherwise well informed, may not fully understand. In fact, this stimulating volume may well entice more students into our exciting and expanding speciality. I would wholeheartedly recommend this book. Ulster Medical Journal --Ulster Medical Journal

**Description**
This is a refreshing and innovative approach to teaching clinical genetics. The authors provide a case-based platform, using clinical scenarios that are close to real-life situations encountered in the daily practice of medical genetics. Each section of patient scenarios is followed by a summary of the information needed to complete each chapter's learning goals.

**Purpose**
This wonderful book familiarizes medical students with likely clinical situations they may encounter in the practice of medical genetics. It is intended to foster an interesting and enjoyable learning experience. Very few books follow this format, and the authors' meet their worthy goals.

**Audience**
It is clear that that the strong clinical material is oriented to help all medical students and genetic counseling students understand the basic genetic concepts early in their education. However, the audience can be broadened to clinical genetics fellows and clinical genetics residents in their training. Well recognized authorities in their field, the authors provide a wonderful review.

**Features**
Each chapter has three basic sections: clinical case scenarios; summary-review; and self-assessment questions. The authors clearly make an effort to present the information in a simple and easy to read format and avoid controversial material while making their case scenarios as real as possible. One of the most helpful features is the description of the learning goals at the beginning of each section, which orients readers to the relevant information. The format is wonderful, with colorful fonts and well done graphics. This is a very exciting and inviting textbook for any clinical genetics enthusiast.

**Assessment**
Very few books have attempted to do what the authors have accomplished so well. They make medical genetics simple, attractive, and real. They provide a link between daily situations in the practice of clinical genetics and the complex information available in human genetics. I look forward to subsequent editions of this wonderful work.

Two thumbs up for Dr. Read and Dr. Donnai. Weighted Numerical Score: 97 - 5 Stars! --Luis F. Escobar, M.D., M.S.(St. Vincent Hospital and Health Care Center), via Doody's Book Review Service

The case studies emphasize the important and complex role of the clinical geneticist, something which many, even those otherwise well informed, may not fully understand. In fact, this stimulating volume may well entice more students into our exciting and expanding speciality. I would wholeheartedly recommend this book. Ulster Medical Journal --Ulster Medical Journal

From the Publisher:

New Clinical Genetics is now recommended reading at the
following universities: Queens; Birmingham; Cambridge; Cardiff; UCD;
Durham; UEA; Edinburgh; Keele; Barts and Queen Mary; Guys Kings and St
Thomas'; Imperial; Liverpool; Manchester; Nottingham Oxford; Sheffield;
Southampton; Sussex; Warwick.
Adopting lecturers can receive a free cd of all the illustrations and
clinical photographs from the book directly from Scion Publishing Ltd

About this edition

• Publisher: Scion Publishing Ltd
• Publication date: 2006
• ISBN 10: 1904842313
• ISBN 13: 9781904842316
• Binding: Paperback
• Edition number: 1
• Number of pages: 428