Translational Informatics Realizing the Promise of Knowledge-Driven

Emergent and multidisciplinary research paradigms have fundamentally transformed biomedical science and the delivery of clinical care. A common theme spanning such transformative changes is the use of rigorous and systematic approaches to the collection,

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Philip R.O. Payne Peter J. Embi Editors

Translational Informatics Realizing the Promise of KnowledgeDriven Healthcare

Health Informatics

Philip R.O. Payne • Peter J. Embi Editors

Translational Informatics Realizing the Promise of Knowledge-Driven Healthcare

Editors Philip R.O. Payne Biomedical Informatics The Ohio State University Columbus, OH USA

Peter J. Embi Biomedical Informatics The Ohio State University Medical Center Columbus, OH USA

ISBN 978-1-4471-4645-2 ISBN 978-1-4471-4646-9 DOI 10.1007/978-1-4471-4646-9 Springer London Heidelberg New York Dordrecht

(eBook)

Library of Congress Control Number: 2014948186 © Springer-Verlag London 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher's location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)

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Contents

Part I 1

2

The Rationale for Translational Informatics

An Introduction to Translational Informatics and the Future of Knowledge-Driven Healthcare. . . . . . . . . . . . . . . . Philip R.O. Payne and Peter J. Embi A Prototype of Translational Informatics in Action . . . . . . . . . . . . . . Philip R.O. Payne

Part II

3 21

Foundations of Translational Informatics

3

Personalized Medicine . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Jessica D. Tenenbaum

35

4

Leveraging E