An Ontology-Based, Mobile-Optimized System for Pharmacogenomic Decision Support at the Point-of-Care

Abstract

BackgroundThe development of genotyping and genetic sequencing techniques and their evolution towards low costs and quick turnaround have encouraged a wide range of applications. One of the most promising applications is pharmacogenomics, where genetic profiles are used to predict the most suitable drugs and drug dosages for the individual patient. This approach aims to ensure appropriate medical treatment and avoid, or properly manage, undesired side effects.ResultsWe developed the Medicine Safety Code (MSC) service, a novel pharmacogenomics decision support system, to provide physicians and patients with the ability to represent pharmacogenomic data in computable form and to provide pharmacogenomic guidance at the point-of-care. Pharmacogenomic data of individual patients are encoded as Quick Response (QR) codes and can be decoded and interpreted with common mobile devices without requiring a centralized repository for storing genetic patient data. In this paper, we present the first fully functional release of this system and describe its architecture, which utilizes Web Ontology Language 2 (OWL 2) ontologies to formalize pharmacogenomic knowledge and to provide clinical decision support functionalities.ConclusionsThe MSC system provides a novel approach for enabling the implementation of personalized medicine in clinical routine.

Pharmacogenomics in the clinic

“…74–76 Currently, heterogeneity among genomic variation databases and among health care record systems, coupled with lack of common ontology for genomic test results and interpretations, limit interoperability and are hindering the use of pharmacogenetic test results longitudinally as well as across all of the health care systems each patient must navigate. Several groups are working to standardize pharmacogenetic test terminologies, 77–82 with an eye toward creating terminology that can drive CDS across health care record systems. Initiatives such as the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health and CPIC are working to create terms and language that can be directly uploaded into electronic health care records’ CDS, but heterogeneity across systems will at least initially slow creation and uptake of CDS to facilitate use of pharmacogenetic information.…”

Integrating clinical decision support systems for pharmacogenomic testing into clinical routine - a scoping review of designs of user-system interactions in recent system development

“…These reports were either generated as HTML pages [10, 18, 22, 30, 34] or as PDF documents [32, 34]. The reports are presented to the physician either in the local EHR - if the pharmacogenomic CDSS was integrated into the EHR - or in an online portal - if they are not integrated into the EHR.…”

“…Pharmacogenomic information is usually gathered within the environment of a particular clinic or health care provider. Via patient letters [18, 31, 39, 42] and online portals [25], which contain the pharmacogenomic test results, this information can be transferred to other health care providers. For instance, patients can be advised to discuss their pharmacogenomic test results with physicians whenever a medication is prescribed which is affected by these pharmacogenomic results [42].…”

Computerized Clinical Decision Support: Contributions from 2014

“…The third best paper is authored by Miñarro-Giménez et al [13]. It is a remarkable work first because it is an attempt to actually take into account pharmacogenomics data for clinical decision support and personalized medicine at large, and second because it implements an innovative combination of latest information technologies.…”