Developing a Prototype System for Integrating Pharmacogenomics Findings into Clinical Practice

Casey Lynnette Overby,Joe W Smith,David Fenstermacher,Kenneth E Thummel,Peter Tarczy-Hornoch,Guilherme Del Fiol,Ira J Kalet,Emily Beth Devine

doi:10.3390/jpm2040241

Abstract

Findings from pharmacogenomics (PGx) studies have the potential to be applied to individualize drug therapy to improve efficacy and reduce adverse drug events. Researchers have identified factors influencing uptake of genomics in medicine, but little is known about the specific technical barriers to incorporating PGx into existing clinical frameworks. We present the design and development of a prototype PGx clinical decision support (CDS) system that builds on existing clinical infrastructure and incorporates semi-active and active CDS. Informing this work, we updated previous evaluations of PGx knowledge characteristics, and of how the CDS capabilities of three local clinical systems align with data and functional requirements for PGx CDS. We summarize characteristics of PGx knowledge and technical needs for implementing PGx CDS within existing clinical frameworks. PGx decision support rules derived from FDA drug labels primarily involve drug metabolizing genes, vary in maturity, and the majority support the post-analytic phase of genetic testing. Computerized provider order entry capabilities are key functional requirements for PGx CDS and were best supported by one of the three systems we evaluated. We identified two technical needs when building on this system, the need for (1) new or existing standards for data exchange to connect clinical data to PGx knowledge, and (2) a method for implementing semi-active CDS. Our analyses enhance our understanding of principles for designing and implementing CDS for drug therapy individualization and our current understanding of PGx characteristics in a clinical context. Characteristics of PGx knowledge and capabilities of current clinical systems can help govern decisions about CDS implementation, and can help guide decisions made by groups that develop and maintain knowledge resources such that delivery of content for clinical care is supported.

Highlights

Personalized medicine involves tailoring medical treatment to individual characteristics
PGx knowledge in the US Food and Drug Administration (FDA) drug labels [6] to inform the design of a conceptual model for PGx Clinical decision support (CDS) embedded in the electronic health records (EHRs) (Figure 1c)
This work enhances our understanding of principles for designing and implementing CDS for drug therapy individualization; and our current understanding of PGx knowledge characteristics in a clinical context

Summary

Introduction

Personalized medicine involves tailoring medical treatment to individual characteristics (e.g., genetic profile). Pharmacogenomics (PGx) is the study of how variations in the human genome affect an individual’s response to medications, and provides the evidence-base for making predictions in the context of drug therapy individualization. As our PGx knowledge grows, the traditional approach of expecting clinicians to memorize all pertinent facts for prescribing drugs cannot scale up. In this context, an overarching gap this work aimed to address was the need for education and guidance for health care professionals to support accurately using and interpreting patient specific genetic data for drug therapy individualization in face of ever increasing availability of PGx knowledge and testing

Objectives

Methods

Results

Discussion

Conclusion