Molecular Diagnostics: 12 Tests That Changed Everything

by W. Edward Highsmith, Jr. (Editor)

Overview

Molecular Diagnostics: 12 Tests That Changed Everything focuses on specific laboratory tests and emphasizes how the availability of these tests has altered how clinicians treat their patients. Presented as a standard outline, each chapter focuses on a specific molecular test and provides background on the test and its clinical applications. Continuing with some discussion on how the test is done, interpreted, and used clinically, each chapter then concludes with a discussion of how that test has changed the way medicine is practiced with respect to the disease or condition in question.

Authored by renowned experts in the field, Molecular Diagnostics: 12 Tests That Changed Everything is a valuable resource for pathologists, pathology residents, laboratory directors, development personnel, lab medicine fellows and those working in the broad area of oncology, infectious disease and genetics.

Product Details

ISBN-13:	9781461481263
Publisher:	Springer New York
Publication date:	09/20/2013
Series:	Molecular and Translational Medicine
Edition description:	2014
Pages:	257
Product dimensions:	7.01(w) x 10.00(h) x 0.03(d)

About the Author

W. Edward Highsmith, Jr., PhD
Mayo Clinic College of Medicine, Department of Laboratory Medicine and Pathology, Molecular Genetics Laboratory, Rochester, MN, USA

Table of Contents

Clinical FISH Testing for the Diagnosis of Solid Tumors.- Epidermal Growth Factor Receptor Testing in Lung Adenocarcinoma.- The Human Epidermal Growth Factor Receptor 2 (HER2).- Tamoxifen and Irinotecan Pharmacogenomics.- Hepatitis C Virus Testing.- Laboratory Testing for HIV Infection: Advances after 27 years.- Detection of Herpes Simplex Virus in Cerebrospinal Fluid using Real-time PCR.- Toward a Safer Blood Supply: The Impact of Molecular Testing.- Chromosomal Microarrays.- BRCA1 and BRCA2 Testing in Inherited Breast Cancer.- Cystic Fibrosis: Carrier Testing, Newborn Screening, and Diagnostic Testing.- Newborn Screening by Tandem Mass Spectrometry and Molecular Confirmation.- Next Generation Clinical Diagnostics: The Sequence of Events.

Editorial Reviews

Reviewer: Valerie L. Ng, PhD MD(Alameda County Medical Center/Highland Hospital)
Description: The 13 chapters in this book describe "12 (molecular) tests that changed everything" and discuss, in the final chapter, the promise of next generation sequencing.
Purpose: The purpose is to describe how molecular diagnostic testing changed medical practice.
Audience: This book is intended for molecular pathologists, clinical laboratory directors, genetics/pathology residents/fellows, and clinical laboratory science students. It also would be of great interest to practitioners who use test results from these methodologies in their daily practice — infectious disease physicians, oncologists, geneticists, neonatologists, obstetricians, etc. — interested in the technology behind the tests.
Features: The 13 chapters are divided into three major sections — oncology, infectious diseases, and genetics. Each chapter follows a standardized format, including a relatively novel section on regulatory issues. This section is of particular interest in the final chapter on next generation sequencing, as it summarizes issues related to gene patenting and includes a brief discussion of related U.S. Supreme Court rulings. The "12 tests" of the title are more than 12 in number. For example, the chapter on HIV discusses many different molecular tests (HIV load, HLA B*5701 detection, etc.). How did these 12 tests get chosen? The editor admits he selected tests which he felt substantially altered medical practice and acknowledges that readers may disagree with the ones he chose. Nonetheless, this is a great way to get a quick, concise, and relatively current update on current or emerging molecular testing applications. Some very minor issues. First, I would have liked more laboratory medicine testing probability discussions for commonly used tests. For example, in the chapter on HSV detection in CSF, it would have been helpful to include the observation that HSV PCR positivity decreases with the number of WBCs present, and CSFs without elevated WBCs have a vanishingly low rate of HSV detection. This would help clinicians decide whether to order the test at all depending on the CSF WBC count or laboratories wanting to set up evidence-based "reflex" testing. Second, this field of testing has an astonishing number of acronyms. The index doesn't include them and sometimes the acronym isn't defined before it is used (e.g., VUS is used on p. 241, but the definition is on p. 243).
Assessment: This is the book to read if you want a quick, concise, and relatively current update on molecular diagnostic tests that have truly changed medical practice.

Doody's Review Service

From the reviews:

“This book is intended for molecular pathologists, clinical laboratory directors, genetics/pathology residents/fellows, and clinical laboratory science students. It also would be of great interest to practitioners who use test results from these methodologies in their daily practice — infectious disease physicians, oncologists, geneticists, neonatologists, obstetricians, etc. — interested in the technology behind the tests. … This is the book to read if you want a quick, concise, and relatively current update on molecular diagnostic tests that have truly changed medical practice.” (Valerie L. Ng, Doody’s Book Reviews, January, 2014)

From the Publisher