Personalized and Precision Medicine Informatics: A Workflow-Based View

Description

This book adopts an integrated and workflow-based treatment of the field of personalized and precision medicine (PPM). Outlined within are established, proven and mature workflows as well as emerging and highly-promising opportunities for development. Each workflow is reviewed in terms of its operation and how they are enabled by a multitude of informatics methods and infrastructures. The book goes on to describe which parts are crucial to discovery and which are essential to delivery and how each of these interface and feed into one-another. Personalized and Precision Medicine Informatics provides a comprehensive review of the integrative as well as interpretive nature of the topic and brings together a large body of literature to define the topic and ensure that this is the key reference for the topic. It is an unique contribution that is positioned to be an essential guide for both PPM experts and non-experts, and for both informatics and non-informatics professionals. Front Matter ....Pages i-xvi Front Matter ....Pages 1-1 Birth of a Discipline: Personalized and Precision Medicine (PPM) Informatics (Terrence Adam, Constantin Aliferis)....Pages 3-13 Front Matter ....Pages 15-15 Clinical Risk Assessment and Prediction (Vigneshwar Subramanian, Michael W. Kattan)....Pages 17-29 Principles of Guideline-Driven PPM Informatics (Donald Casey)....Pages 31-38 Genetic Counseling at the Intersection of Clinical Genetics and Informatics (Andrew J. McCarty, Christine Munro, Michelle Morrow)....Pages 39-58 Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow Perspective (Matthew K. Breitenstein, Erin L. Crowgey)....Pages 59-80 The Growing Medication Problem: Perspective from Industry (Jason Ross)....Pages 81-83 Front Matter ....Pages 85-85 Risk Stratification and Prognosis Using Predictive Modelling and Big Data Approaches (Shyam Visweswaran, Gregory F. Cooper)....Pages 87-105 Informatics Methods for Molecular Profiling (Constantin Aliferis, Sisi Ma, Boris Winterhoff)....Pages 107-132 Constructing Software for Cancer Research in Support of Molecular PPM (Richard Simon, Yingdong Zhao)....Pages 133-150 Platform-Independent Gene-Expression Based Classification-System for Molecular Sub-typing of Cancer (Yingtao Bi, Ramana V. Davuluri)....Pages 151-160 Tumor Sequencing: Enabling Personalized Targeted Treatments with Informatics (Jinhua Wang)....Pages 161-174 Largescale Distributed PPM Databases: Harmonizing and Standardizing PPM Cohorts and Clinical Genomics Data Sharing Consortia (Deanna Cross, Catherine A. McCarty)....Pages 175-184 Redefining Disease Using Informatics (Glenn N. Saxe)....Pages 185-198 Pragmatic Trials and New Informatics Methods to Supplement or Replace Phase IV Trials (Eneida Mendonca, Umberto Tachinardi)....Pages 199-213 Precision Trials Informatics (Eric Polley, Yingdong Zhao)....Pages 215-222 Informatics for a Precision Learning Healthcare System (Marc S. Williams)....Pages 223-250 Front Matter ....Pages 251-251 The Genomic Medical Record and Omic Ancillary Systems (Luke V. Rasmussen, Timothy M. Herr, Casey Overby Taylor, Abdulrahman M. Jahhaf, Therese A. Nelson, Justin B. Starren)....Pages 253-275 Generalizable Architectures and Principles of Informatics for Scalable Personalized and Precision Medicine (PPM) Decision Support (Steven G. Johnson, Pamala Jacobson, Susan M. Wolf, Kingshuk K. Sinha, Douglas Yee, Constantin Aliferis)....Pages 277-303 Building Comprehensive Enterprise-Scale PPM Clinical Informatics Capability and Capacity (Bruce Levy)....Pages 305-317 Personalized and Precision Medicine Informatics Education (Terrence Adam)....Pages 319-330 Front Matter ....Pages 331-331 The Landscape of PPM Informatics and the Future of Medicine (Constantin Aliferis, Terrence Adam)....Pages 333-343 Back Matter ....Pages 345-349