Personalized and Precision Medicine Informatics

1. Front Matter

   Pages i-xvi

   PDF

2. Introduction

   1. Front Matter

      Pages 1-1

      PDF

   2. Birth of a Discipline: Personalized and Precision Medicine (PPM) Informatics

      • Terrence Adam, Constantin Aliferis

      Pages 3-13

3. Classical PPM

   1. Front Matter

      Pages 15-15

      PDF

   2. Clinical Risk Assessment and Prediction

      • Vigneshwar Subramanian, Michael W. Kattan

      Pages 17-29

   3. Principles of Guideline-Driven PPM Informatics

      • Donald Casey

      Pages 31-38

   4. Genetic Counseling at the Intersection of Clinical Genetics and Informatics

      • Andrew J. McCarty, Christine Munro, Michelle Morrow

      Pages 39-58

   5. Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow Perspective

      • Matthew K. Breitenstein, Erin L. Crowgey

      Pages 59-80

   6. The Growing Medication Problem: Perspective from Industry

      • Jason Ross

      Pages 81-83

4. Emerging PPM

   1. Front Matter

      Pages 85-85

      PDF

   2. Risk Stratification and Prognosis Using Predictive Modelling and Big Data Approaches

      • Shyam Visweswaran, Gregory F. Cooper

      Pages 87-105

   3. Informatics Methods for Molecular Profiling

      • Constantin Aliferis, Sisi Ma, Boris Winterhoff

      Pages 107-132

   4. Constructing Software for Cancer Research in Support of Molecular PPM

      • Richard Simon, Yingdong Zhao

      Pages 133-150

   5. Platform-Independent Gene-Expression Based Classification-System for Molecular Sub-typing of Cancer

      • Yingtao Bi, Ramana V. Davuluri

      Pages 151-160

   6. Tumor Sequencing: Enabling Personalized Targeted Treatments with Informatics

      • Jinhua Wang

      Pages 161-174

   7. Largescale Distributed PPM Databases: Harmonizing and Standardizing PPM Cohorts and Clinical Genomics Data Sharing Consortia

      • Deanna Cross, Catherine A. McCarty

      Pages 175-184

   8. Redefining Disease Using Informatics

      • Glenn N. Saxe

      Pages 185-198

   9. Pragmatic Trials and New Informatics Methods to Supplement or Replace Phase IV Trials

      • Eneida Mendonca, Umberto Tachinardi

      Pages 199-213

   10. Precision Trials Informatics

       • Eric Polley, Yingdong Zhao

       Pages 215-222

   11. Informatics for a Precision Learning Healthcare System

       • Marc S. Williams

       Pages 223-250

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.

• Personalized medicine
• precision medicine
• biomarkers
• genetic counselling
• molecular profiling
• genomics

“The book provides a detailed overview of PPM workflows, targeting primarily informaticists. Nevertheless, it can be also useful to any health care professionals, students, or scientists interested in PPM. … The review of the currently used and emerging PPM workflows provides the reader with a comprehensive and detailed survey of PPM.” (Nina Lukač, Croatian Medical Journal, Vol. 61, 2020)

• Pharmaceutical Care & Health Systems, University of Minnesota Pharmaceutical Care & Health Systems, Minneapolis, USA

  Terrence Adam

• Institute for Health Informatics, University of Minnesota, Minneapolis, USA

  Constantin Aliferis

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 andprecision 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.

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