Molecular Diagnosis of Genetic Diseases, 2nd Edition
Posted on: Saturday, 24 July 2004, 06:00 CDT
Molecular Diagnosis of Genetic Diseases, 2nd edition Ed by R Elles, R Mountford. Totowa: Humana Press, 2003. Pp 387, ISBN 0- 89603-932-3, Price $99.50.
In the original edition, it was the authors' aim to present a series of key methodologies in the context of the diagnosis of particular genetic conditions and this philosophy seems to have been continued in this update. It is of interest that most of the techniques described are still relatively labour intensive. As the authors state, the revolution promised through the use of hybridization arrays etc., has yet to materialise in clinical molecular genetics.
Before buying this book, the would-be reader needs to decide what sort of book they require. This really is a book for those working in the area of diagnostic molecular genetics. It is therefore suited to those with more than a basic knowledge of molecular biology or molecular diagnostics; a knowledge of molecular techniques is assumed. The first half dwells upon analytical techniques whilst the remainder, apart from the final two chapters, outlines the investigation of specific genetic diseases.
As always is the case with books of this sort, where many authors are involved, there is wide divergence between the chapters. Some of this invariably arises from the style of the individual authors. However, the amount of detail covered in the chapters does vary greatly. For example, chapter 2 represents a review of methods available for diagnostic mutation detection. It includes no practical information regarding method details etc. In contrast, chapter 3, which describes denaturing high performance liquid chromatography, is highly detailed and includes both practical and theoretical material. In addition, it concludes with a series of 19 notes of supplementary information.
There is a perception that molecular diagnostic laboratories may have been late to embrace quality issues. However, the penultimate chapter on quality management should squash any such myths. It describes the concept of a quality management system in the context of a diagnostic molecular genetics laboratory. Furthermore, it attempts to highlight the benefits to laboratories of implementing a quality system. Included in this system are a quality manual, quality audit, quality improvement and document control, in addition to internal quality control and external quality assessment.
The final chapter, on the regulation of genetic testing in clinical practice, should prove of value to those working in this area. It covers many of the important issues including informed consent, ethical committees, genetic counselling, staff training and quality issues.
If I worked in a molecular genetics laboratory, would I buy this book? No, not for myself, but I would ask that a copy be obtained for the departmental library.
Philip R Wenham
Victoria Hospital
Kirkcaldy, UK
Copyright Royal Society of Medicine Press Ltd. Jul 2004
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