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Molecular medicine : genomics to personalized healthcare PDF

347 Pages·2012·9.5 MB·English
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MOLECULAR MEDICINE Genomics to Personalized Healthcare This page intentionally left blank MOLECULAR MEDICINE Genomics to Personalized Healthcare FOURTH EDITION Ronald J Trent PhD, BSc(Med), MBBS (Sydney), DPhil (Oxon), FRACP, FRCPA, FFSc, FTSE Professor of Medical Molecular Genetics, Sydney Medical School, University of Sydney and Director, Department of Molecular & Clinical Genetics, Royal Prince Alfred Hospital, NSW 2050, Australia AMSTERDAM • BOSTON • HEIDELBERG • LONDON NEW YORK • OXFORD • PARIS • SAN DIEGO SAN FRANCISCO • SINGAPORE • SYDNEY • TOKYO Academic Press is an imprint of Elsevier Academic Press is an imprint of Elsevier 32 Jamestown Road, London NW1 7BY, UK 225 Wyman Street, Waltham, MA 02451, USA 525 B Street, Suite 1800, San Diego, CA 92101-4495, USA First edition 1993 Second edition 1997 Third edition 2005 Fourth edition 2012 Copyright © 2012 Elsevier Inc. All rights reserved No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, mechanical, photocopying, recording or otherwise without the prior written permission of the publisher Permissions may be sought directly from Elsevier’s Science & Technology Rights Department in Oxford, UK: phone (44) (0) 1865 843830; fax (44) (0) 1865 853333; email: Contents Acknowledgments and Dedications vii Preface ix 1. Genes to Personalized Medicine 1 2. Genes, Environment and Inheritance 39 3. DNA Genetic Testing 81 4. Omics 117 5. Delivering Genetics and Genomics Direct-to-Consumer 153 6. Public Health, Communicable Diseases and Global Health 169 7. Development, Aging and Cancer 203 8. Molecular and Cellular Therapies 245 9. Forensic Science and Medicine 275 10. Ethical, Legal and Social Issues (ELSI) 301 Index 329 v This page intentionally left blank Acknowledgments and Dedications I would like to thank members of the Mary Preap and Julia Haynes from Elsevier Molecular Genetics Laboratory at RPA Hospital. have been very supportive. Their skills and dedication made molecu- I dedicate the 4th Edition to my family – Pit, lar medicine a lot more interesting. Prof. John Charlotte and Timothy. They have constantly Buchanan in Auckland understood early on provided support and understanding when I that Molecular Medicine was important for needed to do “home work” for this book. Also patient care and steered me towards the educa- my Executive Assistant Carol Yeung, who has tional aspects. My mother Ninette and my sister drawn the illustrations for all four editions and Lynette have always been there when needed. still remains enthusiastic. vii This page intentionally left blank Preface There have been six major developments professionals are suitably engaged. The first edi- since the third edition of Molecular Medicine: tion was subtitled: An introductory text for stu- dents. This was left out in subsequent editions 1. Growth of omics particularly genomics; on the assumption that the clinical applications 2. The start of whole genome sequencing for of DNA-based medicine were being taught in patient care; the universities. However, new developments 3. Broader acceptance of personalized medicine in in omics are occurring rapidly, and there is some selecting the right drug or its dose based on concern that their educational aspects are not molecular typing of patient DNA; being addressed in many of the modern cur- 4. A shift to somatic cell genetics particularly ricula. Governments and major research funders solid cancers; are attempting to fast track the translational 5. Expansion in the Direct-to-Consumer DNA aspects of molecular medicine but this will not testing market, and be enough without linking their initiatives to the 6. Recognition of a roadblock to the effective education of tomorrow’s health practitioners. translation of molecular medicine research This edition no longer has a Glossary or including the need for better bioinformatics to Methodology because this material can be found understand the significance of DNA variants on the Internet. Nevertheless, Methodology and the many changes in DNA, RNA or even remains important, since patients and fami- chromosomes now detectable through omics lies are interested and will go to the Internet, strategies. so the health professional may be asked techni- The title to this edition has subtly changed cal questions. In the era of open yet personal- to include reference to personalized medi- ized medicine, there is no reason why the health cine, which, as explained in Chapter 1, is not professional and the patient or family can- new with some taking it as another example of not sit down and work through the technical inappropriate hype. Nevertheless, it attracts issues using the computer as a component of the attention and so is useful if it helps to push the consultation. translational components of molecular medi- Ronald J Trent cine and ensures the next generation of health Sydney, December 2011 ix

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