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Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics
James M Hoffman1, Henry M Dunnenberger2, J Kevin Hicks3
1Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN, USA James.Hoffman@stjude.org.
Summary
Implementing pharmacogenomics in routine care needs machine-readable knowledge bases for electronic health records (EHR) with clinical decision support (CDS). The Clinical Pharmacogenetics Implementation Consortium (CPIC) is developing EHR-agnostic resources to integrate genomic data at the point of care.
Area of Science:
- Pharmacogenomics and Clinical Informatics
- Genomic Data Integration in Healthcare
Background:
- Widespread adoption of pharmacogenomics in clinical practice is hindered by the lack of standardized, machine-readable knowledge resources.
- Existing electronic health record (EHR) systems often lack comprehensive clinical decision support (CDS) functionalities for pharmacogenetics.
Purpose of the Study:
- To outline principles for developing key features of future pharmacogenomic knowledge bases.
- To describe the development of EHR-agnostic implementation resources by the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group.
- To facilitate the integration of pharmacogenomic test results into clinical workflows for point-of-care decision-making.
Main Methods:
- Developing and systematically incorporating EHR-agnostic implementation resources into all CPIC guidelines.
- Illustrating methods for integrating pharmacogenomic test results within clinical information systems.
- Leveraging collective experience in creating CPIC resources and implementing pharmacogenomics in practice.
Main Results:
- CPIC is creating a suite of EHR-agnostic resources to support pharmacogenomic implementation.
- These resources demonstrate practical approaches for integrating genomic data with CDS functionalities.
- The initiative aims to bridge the gap between genomic testing and clinical application.
Conclusions:
- Standardized, machine-readable knowledge resources are crucial for the routine clinical adoption of pharmacogenomics.
- The development of EHR-agnostic implementation resources by CPIC is essential for actionable clinical decision support.
- These knowledge resources are foundational for advancing precision medicine through pharmacogenomics.
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