Developing a prototype system for integrating pharmacogenomics findings into clinical practice

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.

Keywords: clinical decision support systems; computerized provider order entry; electronic health records; knowledge representation; personalized medicine; pharmacogenomics.

Figure 1

An overview of the rationale behind a prototype pharmacogenomics clinical decision support (CDS) system design. Large boxes indicate methods (a–d); solid black arrows point to themes of major findings (small boxes i–viii); dashed arrows point from themes to methods they inform; bold purple lines illustrate the order methods were performed; relationships indicated by grey lines are not described in this manuscript.

Figure 2

The distribution of 565 IF-THEN rules across phases of genetic testing, stratified by user interface presentation type (warning, recommendation or information only).

Figure 3

An example website generated using the OpenInfobutton Knoweldge base configured for this project and a customized HTML layout.

Figure 4

Example Cerner® alert message.