Sunday, November 9, 2008

Molecular Diagnostics for the Clinical Laboratorian

16221103

Description:

This updated and expanded tutorial guide to molecular diagnostic techniques takes advantage of many new molecular technologies to include both improved traditional methods and totally new methods, some not yet in routine use. The authors offer cutting-edge molecular diagnostics for genetic disease, human cancers, infectious diseases, and identity testing, as well as new insights into the question of quality assurance in the molecular diagnostics laboratory. Additional chapters address other technologies found in the clinical laboratory that complementary to molecular diagnostic technologies and discuss genetic counseling and the ethical and social issues involved with nucleic acid testing.

In addition to complete revision of the existing material, several new chapters have been added to the second edition on bioinformatics; microarrays; methylation assays; FISH; laser capture microdissection; quality assurance; chimerism studies for bone marrow transplantation; and the ethical, legal, and social issues of genetic counseling. The text is designed as a tutorial that can be used by residents, physicians, technicians, trainees in pathology, and others who need to understand the field. The initial chapters are devoted to aspects of basic molecular biology, followed by diagnostic technologies of all kinds. The chapters are illustrated and include full bibliographies.

This slim yet weighty book is the second edition of a comprehensive review of molecular diagnostic testing in the clinical laboratory.

The purpose of this edition was to update the previous edition, given the rapid pace of technological evolution in diagnostic testing in today's clinical laboratory. Given the pace at which this field of laboratory testing is progressing, the authors have succeeded admirably in providing an "all in one" text that is current.

This book would be useful to anyone interested in this area of laboratory testing. Obvious audiences include pathologists (in training or in practice), clinical laboratory scientists (CLSs, students or in practice), and any healthcare provider whose daily practice involves ordering these tests and interpreting the results in conjunction with their patient's symptoms.

This book is quite a tour de force on molecular diagnostic testing. I was quite delighted to read the first chapter discussing the historical perspective on clinical laboratory testing. Such a perspective dramatically highlights the rapid technological advances in all laboratory testing, let alone molecular diagnostics, which have occurred in the last century and especially in the last decade. The book is divided into nine additional sections. The first section discusses basic theory and technology underlying molecular testing:e.g., nucleic acid chemistry, extraction of nucleic acids, blotting techniques, amplification techniques, and bioinformatics. The next eight sections then discuss clinical molecular diagnostic testing related to different clinical situations (e.g., disease, genetic counseling, identity verification, etc.). An entire section is devoted to quality assurance in the molecular diagnostic laboratory:an area with many unresolved issues. One chapter devoted to laboratory-developed tests is quite useful, listing key references and international standards to assure that the laboratory is adhering to well recognized quality practices. In general, I found the book to be useful and only had two minor criticisms. The first is that the writing style tends to be traditional and didactic:not the most conducive to holding the attention of the reader. The second relates to a less than complete discussion of the clinical utility of such testing. More specifically, analytical sensitivities and specificities of individual tests are covered in great detail, whereas critical analyses of clinical sensitivities, specificities, and utility are often lacking or treated superficially. This, admittedly, is a very minor criticism given that information on the clinical utility of these tests is still accruing.

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