Article Text

PDF

Emery and Rimoin's Principles and Practice of Medical Genetics
  1. Willie Reardon

    Statistics from Altmetric.com

    4th edition. Editors D L Rimoin, J M Connor, R E Pyeritz, B R Korf. (Pp 4936; £350.00.) Edinburgh: Churchill-Livingstone. 2002. ISBN 0443064342.

    It is almost 20 years since the first edition of this book became available and, in that time, there can hardly be a department of clinical genetics anywhere that has not felt the need to acquire a copy. It has carved a special and much respected place in our professional affections. This new edition, after a gap of over five years of momentous scientific discovery and relentless reshaping of clinical practice, will require the provision of very significant shelf space, stretching, as it does, to three packed volumes and offering not just an updating of previous work, but the addition of over 20 new chapters.

    They are virtually all represented within these covers - the great and the good among geneticists, some famous, others awaiting the call of fame, but common to all contributors is a track record of distinction within their field of expertise. The general layout of the book is broadly similar to that of its immediate predecessor, with an initial 21 chapter section on “Basic Principles”, followed by a new section entitled “General Principles,” comprising 13 chapters. Thereafter, follow nine chapters comprising the section entitled “Approaches to Clinical Problems.” The last section, “Approaches to Specific Disorders” accounts for over 100 chapters, each considering groups of related conditions, such as “cardiomyopathies” or “renal cystic diseases”.

    In contrast to reviews of most other books, one cannot hope to read the book from cover to cover, check occasional facts, smile or scowl as appropriate, and reflect the experience in 250 words. I have read individual chapters, randomly chosen either for the interest of the title (“Medicine in a Genetic Context” in which Dr Barton Childs offers interesting ideas not often presented to trainees and worthy of every clinician's attention), or for personal clinical and research interest (“Craniosynostosis” in which Drs Lewanda and Jabs do well to summarise a difficult and potentially confusing body of publications into a sensible overview, while betraying a highly selective and unrepresentative approach to citation of relevant published reports), or simply to address my absolute ignorance (“Twins and twinning”, in which Dr Judy Hall stimulates, excites, and informs in equal measure). Additionally, these volumes have rested on the window sill next to my desk for several weeks allowing me ready access in those moments of blankness that are the daily lot of the jobbing geneticist. It has been my experience that there has usually been some clue or idea to be found there that enabled one to address the clinical situation with a structure and purpose that might otherwise have been lacking. This observation is especially true in relation to the investigation of particular clinical presentations. It has been no less valuable at reminding myself of those essential facts, once clear, but which have become dimmed with time and the grasp of which is now recognisably tenuous.

    It has to be asked whether, in an age of highly specialised databases, subspecialist textbooks, and widespread online access to multiple sources of information including clinical guidelines, a book of essentially general nature still commands a place. It is true that much of the information offered herein is of general nature and subspecialist reading in the journals or other sources will often be required in respect of individual patients. Nonetheless, to have brought together between the covers of three volumes a comprehensive summary of current thoughts and practices in clinical genetics as practised in the leading departments across the world by some of the greatest geneticists is a magnificent achievement. It is a body of experience from which we can all learn and to which I suspect most of us will continue to turn on a regular basis. So, although this book will be supplemented by specialist resources in every department, there cannot be a medical library or a department of clinical genetics which can afford to be without it. It should form the backbone of many a medical genetics library. It is well finished in high quality paper, beautifully bound, as it needs to be, and a credit to editors, authors, and publishers alike.

    View Abstract

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.