Second edition

Helen Firth and Jane Hurst

Published by Oxford University Press (September 2017)

ISBN 978-0-19-955750-9

Price £70

https://global.oup.com/academic/product/oxford-desk-reference-clinical-genetics-and-genomics-9780199557509?cc=gb&lang=en&q=978-0-19-955750-9

I have already reviewed on this site, another member of the Oxford Desk Reference series on Acute Medicine, https://www.glycosmedia.com/oxford-desk-reference-acute-medicine/ and I was very impressed with it. So I looked forward to receiving this book and I was not disappointed. Like its sibling this is a solid hardback book, well detailed and an excellent guide for a clinician wanting to learn much more. It is primarily a British book and so generally speaking, it reflects UK practice but I am sure it will (and deserves to) have a global appeal.

Put simply, this is a fascinating and highly readable book that covers a vast tract of the genetics and genomics field. It is hugely detailed and runs into well over 800 pages and for most general clinicians this could easily act as a one stop shop. There is a superb mix of science and clinical angles, offering vast amounts of highly relevant reading as well as being an excellent reference source. Naturally a large number of inherited conditions and situations are covered but I also found it fascinating to read about the genetic of common conditions like diabetes mellitus. A number of specialties will find the relevant sections of this book very informative and certainly for me, this shines a new perspective in my everyday clinical work.

Sure some the science behind the genetics can sometimes be tricky for the average clinician to follow but there is plenty that is relevant here for a number of healthcare professionals in a large number of specialties. I think the book represents very good value for money for what is a very readable and in depth book. It is easy to dip into and read a small but relevant section fairly quickly. The logical layout and clear writing style make it easy to understand and this book deserves to reach a wide audience. It does not come with a web or app based companion which I think could be very useful and that could be something for the future. Interestingly whilst I was reviewing this book, I read a very relevant editorial in the British Journal of General practice http://bjgp.org/content/67/665/540 which is well worth a read.

This is a very classy and excellent textbook which can easily act as either a reference source or simply a great book to open up and read a relevant section. It has certainly enhanced my appreciation of the impact of genetics on current clinical practice.

Dr Harry Brown

December 2017