Nucleic Acid Testing for Human Disease

497 Pages·2006·11 MB·English

by  Attila Lorincz

Nucleic Acid Testing
Human Disease
for
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Nucleic Acid Testing
Human Disease
for
Edited by
Attila Lorincz
Boca Raton London New York
CRC is an imprint of the Taylor & Francis Group,
an informa business
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Published in 2006 by
CRC Press
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© 2006 by Taylor & Francis Group, LLC
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International Standard Book Number-10: 1-57444-543-X (Hardcover)
International Standard Book Number-13: 978-1-57444-543-5 (Hardcover)
Library of Congress Card Number 2005046731
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Library of Congress Cataloging-in-Publication Data
Nucleic acid testing for human disease / edited by Attila T. Lorincz
p. cm.
Includes bibliographical references and index.
ISBN 1-57444-543-X (alk. paper)
1. Nucleic acids--Diagnostic use. I. Lorincz, Attila T.
RB43.8.N83N83 2006
616.07’56--dc22 2005046731
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Dedication
I dedicate this book to my wife Joan and my children Eamon and Ilona.
Their love and support have sustained me throughout the years
and enabled me to focus my energy to undertake this task.
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Preface
Nucleic acid tests (NATs) represent a “grab bag” of highly diverse methods that detect and
characterize properties of deoxyribonucleic acids (DNAs) and ribonucleic acids (RNAs) in their
various forms. Despite the whimsical-sounding name, these NATs are not pesky; they constitute
highly sophisticated and remarkably important medical advances that have progressed from relative
obscurity in the 1980s to major players in the repertoires of most clinical testing laboratories today.
Tens of millions of routine NATs are now performed for clinical diagnosis, with millions more
conducted in research settings. From the perspective of current and expected future benefits to
human healthcare, their value is immeasurable. In fact, NATs have the potential in a matter of a
few decades to become the predominant molecular methods for testing and monitoring human
health.
This book brings together a diverse group of leading researchers from academia, clinical testing
laboratories, and industry who describe NAT technologies and related clinical applications. The
intent is to give readers sufficient detail of the myriad techniques to allow an understanding of how
tests are performed and interpreted, and to present the do’s and don’ts of clinical use.
The first part of the book emphasizes aspects of the technology. It includes seven chapters on
specific laboratory techniques with supplementary matter on test applications. The techniques
covered include target- and signal-amplification-based NAT procedures, microarrays, bead-based
multiplex assays, in situ hybridization, single nucleotide polymorphism (SNP) analysis, and RNA
expression profiling. The final chapter of this section focuses on laboratory issues, including the
pressing need for proper clinical validation of tests intended for routine use on humans.
The second part of the book has a stronger focus on specific applications of NATs to diagnose
and treat human diseases such as infections, cancers, and inherited disorders. The chapters run the
gamut from viral, bacterial, and fungal detection to human genetic exploration by SNP determina-
tion, patterns of RNA expression, and the growing relevance of epigenetic changes such as meth-
ylation. To round out the book, we include a forward-looking chapter on where the field is seen to
be moving from an academic research perspective and an overview of test validation issues.
Good medicine starts with an accurate diagnosis, and it is now abundantly clear that favorable
outcomes in medicine are tied to robust NATs. It is hoped that this book will promote understanding
of the tremendous and increasing impact of NATs in medicine, and thereby play a role in speeding
the evolution of these exciting tools to further improve the human condition.
Attila T. Lorincz, Ph.D.
Gaithersburg, Maryland, USA
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Acknowledgments
I am deeply grateful for the assistance, support, and influence of many friends and colleagues who
made this book possible. Special thanks to Jennifer Smith, my co-author of Chapter 10, and to the
authors of the individual chapters, all of whom took substantial time from their busy lives to write
excellent and thought-provoking reviews of their respective fields. Allison Cullen, Irina Nazarenko,
Renee Howell, Richard Obiso, Paul Eder, and others on my research and development team helped
“hold the fort” while I was engrossed in the myriad distracting details of executing this work.
Mark Schiffman, Eduardo Franco, Ralph Richart, Richard Reid, and other colleagues in my
field who appreciate the complexities of the quest for scientific truth have influenced my thinking
and research work over the years. Evan Jones and Charles Fleischman provided a conducive
environment, and Katherine Mack communicated with all the contributors and the publishing house,
and worked tirelessly on the minutiae of the manuscripts to the very end.