Oxford Desk Reference: Clinical Genetics

Abstract

Clinical genetics is a relatively young speciality dealing with genetic disorders of all organ systems affecting all age groups. To say writing a comprehensive and useful book for clinical geneticists is a Herculean task is like stating the obvious. The authors of Oxford Desk Reference: Clinical Genetics deserve to be congratulated for achieving the impossible. This is one hands on guide sorely missed by trainee geneticists in the past. Dr Helen Firth and Dr Jane Hurst not only realised the need for such handbook but managed to address it effectively. Oxford Desk Reference is divided into seven sections and contains over 600 pages. The book begins with glossary of terms used in the world of dysmorphology and genetics followed by a brief introduction of basic and essential concepts such as modes of inheritance, genetic testing and confidentiality. This symbolises the approach of the authors through out the book of ‘not taking anything for granted’ as far as the basic knowledge for the speciality is concerned. The second section deals with the clinical approach to various clinical scenarios (almost a hundred) faced by geneticists in their day-to-day practice. Differential diagnosis of one single clinical finding and the practical approach to it highlights this section. This section emphasises on a structured approach to a clinical problem and is quite stimulating. The third section deals with common genetics consultations giving a brief overview of common and uncommon genetic conditions. Around 400 pages are dedicated to these two sections making it an indispensable tool for geneticists and other physicians with interest in genetics. The fourth and fifth section deals with cancer genetics and various chromosomal disorders. The sixth section is about pregnancy and fertility. This contains a useful overview of the differential diagnosis of various antenatal scan findings and other issues commonly encountered in prenatal clinics. All the chapters in these sections end with information about relevant support group and the expert advisors. The last section is equally valuable with more than 50 pages encompassing growth and development charts, skeletal dysplasia charts, ISCN nomenclature and other useful information for clinicians. Overall this book is a winner and is a must for every clinical genetics department. This is arguably the most important book ever published for trainees in genetics. However this should not be interpreted as less valuable for trained geneticists or other physicians with interest in clinical genetics. This is one book, which can be considered as an extremely useful reference source to any genetics physician. Be it a prenatal clinic, a cancer clinic or a dysmorphology clinic it is a desirable companion. As aptly described in the preface this book is a ‘peripheral brain’ and ‘life saver’ for the geneticists in many situations!