BookTerrence Adam, Constantin Aliferis, editors.
Summary: 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.
Contents:
Intro; Acknowledgments; Contents; Contributors; Part I: Introduction;
Chapter 1: Birth of a Discipline: Personalized and Precision Medicine (PPM) Informatics; Introduction to PPM and Its Relationship with Informatics; Purpose of the Present Book; Purpose of Present Volume; Contents and Structure of the Book; Classical Personalized and Precision Medicine; Newer and Emerging Forms of PPM; References; Part II: Classical PPM;
Chapter 2: Clinical Risk Assessment and Prediction; Overview of Early PPM Modalities; Growth Curves; Risk Factors; Delivery of Classical PPM Tools at Point of Care Modeling Disease Severity and RiskDisease Staging; Prediction Models; Modeling Risk of Binary Events; Evaluating Prediction Models; Selection of New Risk Factors; Nomograms; Looking Forward; References;
Chapter 3: Principles of Guideline-Driven PPM Informatics; Guidelines Driving Precision Care; Computable Guidelines and Informatics Considerations; References;
Chapter 4: Genetic Counseling at the Intersection of Clinical Genetics and Informatics; Introduction; Genetic Counseling: Traditional Roles and Service Delivery Models; Genetic Testing; Genetic Testing Results; Carrier Screening Newborn ScreeningDiagnostic and Predictive Testing; Pharmacogenomics; Genetic Counseling Practice Guidelines; Genetic Counseling Educational Standards; Ethical and Legal Considerations; Autonomy, Beneficence, Non-maleficence, and Justice; The Health Insurance Portability and Accountability Act (HIPAA); The Genetic Information Nondiscrimination Act of 2008; Duty to Warn; Expanding Roles and Service Delivery Models for Genetic Counseling; Genetic Counselors in Utilization Management; Genetic Counselors in the Public Health Setting; Conclusion; References
Chapter 5: Fundamentals of Drug Metabolism and Pharmacogenomics Within a Learning Healthcare System Workflow PerspectiveIntroduction; Foundations of Pharmacogenomics for Precision Medicine Informatics; Origins of Pharmacogenetics; Modern Pharmacogenomics; Learning Healthcare System Workflow for Pharmacogenomics; Reverse Translation: Advancing Pharmacogenomics Knowledge with Real World Data; Sequencing Technologies and Data Pre-processing; Publicly Available Data Sources and Resources; Translational Informatics Study Design; Agnostic Signal Detection and Dimensionality Reduction Signal Tuning and ValidationSignal Augmentation and a Priori Knowledge; Forward Translation: Augmenting Clinical Practice with Actionable Pharmacogenomics Knowledge; "N of 1" and Comparable Populations; Signal Robustness and Sequencing Technology Considerations; Knowledge Management and Representation; Computational Tools to Navigate Signals; Appropriate Conveyance of Knowledge; Future Directions; Summary and Conclusion; References;
Chapter 6: The Growing Medication Problem: Perspective from Industry; Introduction; RightMed® Comprehensive Solution; Precision Medicine Information Challenge