If there was a Booker Prize for new texts on clinical genetics, then the winner this year would be a foregone conclusion. No one else could possibly come up with an entry as good as this. Somehow, squeezed in between busy careers and presumably equally demanding family lives, Helen Firth and Jane Hurst have found the time to compile the definitive hands‐on guide to clinical genetics.
The authors have chosen to divide their working manual into seven sections, beginning with an introduction covering the basic principles of Mendelian inheritance and tools of genetic counselling, and concluding with an extremely comprehensive review of pregnancy/fertility related genetic problems. This will prove to be particularly valuable as clinical geneticists increasingly find themselves invited to interpret and counsel for abnormal prenatal ultrasound findings. The bulk of the text, consisting of over 500 closely typed pages, is subdivided into four sections entitled Clinical Approach, Common Consultations, Cancer, and Chromosomes. These provide coverage of several hundred clinical scenarios and diagnostic challenges, comprising almost every situation that a clinical geneticist is likely to encounter in day to day practice. Each entry has been meticulously prepared, so that if we open the book randomly at, say, microcephaly or autism or breast cancer, each condition is defined, a practical clinical approach (history, examination, and investigations) is outlined, there is an apt and succinct discussion of possible differential diagnoses, and the topic is rounded off with guidelines for counselling on recurrence risks, carrier detection, and prenatal diagnosis. The small print at the end of each entry provides useful references with details of the relevant support group and an acknowledged authority who acted as an “expert adviser”. It says much for the persuasive powers of the authors that they succeeded in ensuring that every entry—remember there are several hundred—was reviewed by a colleague with recognised expertise. The book is completed by an extremely useful appendix consisting of 55 pages of charts and tables.
This “desk reference” will rapidly become as indispensable as OMIM and the London Dysmorphology Database. The breadth and depth of information provided is remarkable.
All the entries have been chosen carefully and the information provided is always comprehensive, relevant, and up to date. As a practical guide to the specialty of clinical genetics this book has no match, and overall it represents an awesome achievement. How did the authors manage to acquire and collate all this knowledge? Where did they find all this information? Clearly they have little consideration for their peers who slave away over the word processor writing text books that they have now rendered obsolete! And how are we all going to find a pocket big enough to conceal this treasure trove when we visit the ward or a peripheral clinic? If your department can only afford one book this year, make it this one. Better still, buy your own copy and keep it hidden because it is going to be much in demand.