Clinical Decision Support for Pharmacogenomic Precision Medicine

Foundations and Implementation

1st Edition - June 14, 2022
Editors: Beth Devine, Richard David Boyce, Kristin Wiisanen
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 2 4 4 5 3 - 1
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 4 4 5 4 - 8

Clinical Decision Support for Pharmacogenomic Precision Medicine: Foundations and Implementation offers overviews, methods and strategies for translating genomic medicine to clinic… Read more

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Clinical Decision Support for Pharmacogenomic Precision Medicine: Foundations and Implementation offers overviews, methods and strategies for translating genomic medicine to clinical practice. The book's authors explore incorporating pharmacogenetics into electronic health records, CDS methods and infrastructure for delivery, economic evaluation, the hospital administrations’ role and needs in integration, and patient counseling aspects. The book empowers clinicians, researchers, translational scientists, and data and IT experts to effectively navigate the complex landscape of CDS for pharmacogenomic precision medicine. Illustrative case studies of existing gene networks include CSER, eMERGE, the IGNITE network, DIGITIZE, the CDS Learning Network (RTI), ClinGen, Ubiquitous and CDS Hooks.

Cover image
Title page
Table of Contents
Copyright
Contributors
About the editors
Section One. Foundations of clinical decision support and pharmacogenomic precision medicine
Chapter One. Overview of effective pharmacogenomic clinical decision support
Introduction
Pharmacogenomics and precision medicine
Potential benefits of CDS
Role of CDS in pharmacogenomic precision medicine
Developing and implementing CDS for pharmacogenomic precision medicine
Other considerations for pharmacogenomic CDS
Overview of this book
Conclusion
Chapter Two. Scientific evidence and sources of knowledge for pharmacogenomics
Introduction
Sources of scientific evidence of pharmacogenomic associations
Sources of pharmacogenomic knowledge
Pharmacogene variation consortium
Pharmacogenomics knowledgebase
PharmGKB annotations
PharmGKB levels of evidence
PharmGKB pathways
Very important pharmacogene summaries
Drug label annotations
Pharmacogenomic guideline annotations
Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association (KNMP)
Clinical Pharmacogenetics Implementation Consortium
Allele definition table
Allele functionality table
Diplotype–phenotype table
Allele frequency table
Pre- and post-test alerts
PharmCAT
Conclusion
Chapter Three. Laboratory considerations for pharmacogenomic testing
Introduction
Clinical laboratory regulation
Genetic terminology and nomenclature
Determining genes and variants to test
Obtaining, tracking, and assessing DNA quality of samples
Testing platforms
Copy number assessment
Conclusion
Chapter Four. Advancing equity in the promise of pharmacogenomics
Introduction
Pharmacogenomic CDS to advance healthcare equity
Potential for pharmacogenomics to increase healthcare disparities
Maximizing benefit and minimizing harm with pharmacogenomic CDS
Conclusion
Section Two. Developing and building clinical decision support for pharmacogenomic precision medicine
Chapter Five. Clinical decision support methods and infrastructure
Introduction
Modes of information delivery in CDS
Vendor-specific electronic health record systems CDS capabilities
Third-party clinical decision support systems and application programming interfaces
Storage and access of genomic data
Conclusion
Chapter Six. The role of machine learning to predict treatment response and target drug therapies
Introduction
P4 medicine and deep phenotyping to target drug therapies
Machine learning to identify groups and predict treatment response
Data preparation and data to inform clinical decision support
Validation and evaluation of machine learning–driven CDS
Explanation and interpretation of machine learning–driven CDS
Implementation and dissemination of machine learning–driven CDS
Polygenic risk profiling
Conclusion
Chapter Seven. Usability and human-centered design
Introduction
Why is pharmacogenomics usability hard?
Evaluation
Human-centered design in pharmacogenomics: selected examples
Conclusion
Chapter Eight. Clinical considerations for precision medicine clinical decision support
Introduction
CDS design: the five rights
Implementing and maintaining manually developed rules
Predictive algorithms in pharmacogenomics
Clinical considerations for healthcare disparities
Conclusion
Section Three. Adoption and delivery of clinical decision support for pharmacogenomic precision medicine
Chapter Nine. Patient-facing clinical decision support for pharmacogenomic precision medicine
Introduction
Foundational concepts of patient clinical decision support for pharmacogenomics
Regulatory issues surrounding patient-facing CDS for pharmacogenomics
Current landscape of patient-facing clinical decision support for pharmacogenomics
Opportunities and challenges with patient-facing CDS
Conclusion
Chapter Ten. Role of the genetic counselor in pharmacogenomic precision medicine
Introduction
Genetic counseling in pharmacogenomic precision medicine
Genetic counselor practices and training
Patient counseling considerations and challenges for pharmacogenomic precision medicine
Conclusion
Chapter Eleven. A learning health system approach to delivery and adoption of clinical decision support
Introduction
Operationalizing the LHS approach
Requirements of the LHS approach
Delivery and adoption of CDS
The LHS approach to pharmacogenomics CDS in action: a hypothetical case study of Stellar Health
Conclusion
Chapter Twelve. Integration of clinical decision support infrastructure and translating into real-world applications
Introduction
Challenges with documenting test results in the electronic health record (EHR)
Applying pharmacogenomic test results throughout a patient's lifetime
Conclusion
Index

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Beth Devine

Richard David Boyce