Personalized and Precision Medicine Informatics

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.

Auteur

Terrence Adam is an Associate Professor of Pharmaceutical Care and Health Systems in the University of Minnesota College of Pharmacy and in the Institute for Health Informatics (IHI). Dr. Adam has doctoral degrees in Health Informatics and Medicine as well as a bachelors degree in Pharmacy. He is a clinical informaticist and practicing physician and pharmacist focused on perioperative medicine and medication safety. His research focuses on developing and improving clinical decision making at the point of care for personalized and precision medicine diagnostics, risk assessment and treatment optimization. His research has utilized electronic medical record systems, large clinical databases and patient oriented clinical data acquisition to manage and improve clinical decision support and clinical care quality. He leads the recently-launched PhD track in Personalized and Precision Medicine Informatics in IHI and also directs courses focused on both clinical and precision medicine informatics.

Constantin Aliferis is Professor of Medicine and Data Science, Chief Research Informatics Officer, and Director of the Institute for Health Informatics at the University of Minnesota (UMN). Previously Dr. Aliferis served as the Founding Director of the Center for Health Informatics and Bioinformatics at the NYU Langone Medical Center where he was also Informatics Director for the NYU Clinical and Translational Science Institute and the NYU Cancer Institute. His research has produced frontier methods for scalable predictive and causal modeling, with focus on personalized and precision medicine across a wide spectrum of diseases including: multiple Cancer types, Osteoarthritis, PTSD, Suicidal Thoughts and Behaviors, viral URTI, Atherosclerosis, Pneumonia, Sepsis, Psoriasis, High Blood Pressure, and Stroke & stroke-like syndromes. Dr Aliferis is an experienced educator who is currently overseeing the UMN programs in Health Informatics. Previously he served as architect and Director of both the Vanderbilt and NYU graduate programs in Biomedical Informatics. Over the years, he has taught numerous courses in his areas of expertise and has mentored more than 30 students and faculty.

Contenu
Part I Introduction 1 Birth of a Discipline: Personalized and Precision Medicine (PPM) Informatics Part II Classical PPM 2 Clinical Risk Assessment and Prediction 3 Principles of Guideline-Driven Health Informatics 4 Genetic Counseling at the Intersection of Clinical Genetics and Informatics 5 Fundamentals of Drug Metabolism and Pharmacogenomics within a Learning Healthcare System Workflow Perspective 6 The Growing Medication Problem: Perspective from Industry Part III Emerging PPM 7 Risk Stratification and Prognosis Using Predictive Modelling and Big Data Approaches 8 Informatics Methods for Molecular Profiling 9 Constructing Software for Cancer Research in Support of Molecular PPM 10 Platform-Independent Gene-Expression Based Classification-System for Molecular Sub-Typing of Cancer 11 Tumor sequencing: Enabling Personalized Targeted Treatments with Informatics 12 Largescale Distributed PPM Databases: Harmonizing and Standardizing PPM Cohorts and Clinical Genomics Data Sharing Consortia 13 Redefining Disease Using Informatics 14 Pragmatic Trials and New Informatics Methods to Supplement or Replace Phase IV Trials 15 Precision Trials Informatics 16 Informatics for a Precision Learning Healthcare System Part IV Integrative Informatics for PPM 17 The Genomic Medical Record and Omic Ancillary Systems 18 Generalizable Architectures and Principles of Informatics for Scalable Personalized and Precision Medicine (PPM) Decision Support 19 Building Comprehensive Enterprise-Scale PPM Clinical Informatics Capability and Capacity 20 Personalized and Precision Medicine Informatics Education Part V Conclusion 21 The Landscape of PPM Informatics and the Future of Medicine