Projects

Current projects in the Informatics of Genomic Medicine Laboratory use pharmacogenomics as a starting point to develop the tools and technologies needed to realize genomic-based precision medicine.

Developing next-generation genomic CDS

Traditionally, genomic-based clinical decision support (CDS) rules have been implemented as pop-up alerts that interrupt the clinical workflow. In addition, the CDS rules usually consider only a single gene at a time. As clinical-grade whole exome and whole-genome sequencing becomes more common, technologies are needed to interpret patient genomic data and deliver comprehensive, integrated knowledge to a clinician at the right time. In partnership with the Center for Individualized Medicine and the Office of Information and Knowledge Management, we are developing novel systems that provide scalable next-generation genomic CDS. In collaboration with the Medication Safety Code initiative, we are exploring technologies that will enable patients to access personalized pharmacogenomics recommendations using mobile devices.

Standardizing clinical genetic data

Genomic data cannot be used to improve health if it cannot be accurately communicated and correctly understood by both humans and computer systems. Standards for data representation and exchange are necessary to bridge this gap and enable genomic clinical decision support; however, existing standards are incomplete and not universally adopted. These limitations form a barrier to the efficient exchange and use of genomic information by clinicians, researchers and electronic systems including clinical decision support services. This area of research aims to address these limitations by improving existing standards for the representation of clinical genetic data. Collaborative partners include the Pharmacogenomics Research Network (PGRN), Clinical Pharmacogenetics Implementation Consortium (CPIC), Health Level Seven International (HL7) and the Clinical Genome Resource (ClinGen).

Enhancing standards for medications

Standardized representation of drug information is needed to facilitate the management of medication lists for clinical decision support (CDS) rules, including those used for clinical pharmacogenomics. The existing standards used to represent drug data within clinical information systems do not contain the level of precision necessary to enable the efficient maintenance of large-scale genomic CDS rules. This study, in collaboration with Mayo Clinic Pharmacy Informatics, systematically identifies and resolves limitations in drug terminologies.

Capturing and disseminating PGx CDS knowledge

While all medical centers use the same body of knowledge to inform the design of pharmacogenomic (PGx) clinical decision support (CDS), no two implementations are the same. Sharing detailed information about PGx CDS implementations is critical to establishing standards of care and enabling multisite outcomes studies, yet no conventions exist. In fact, one of the greatest challenges in comparing PGx CDS rules is unambiguously documenting how a genetic test result is generated, interpreted and acted upon clinically. In partnership with the Pharmacogenomics Research Network Translational Pharmacogenetics Project (PGRN-TPP), the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the eMERGE Network, we are developing novel methods for capturing PGx CDS knowledge and creating public repositories for sharing.

Developing portable PGx CDS algorithms

Clinical pharmacogenomic (PGx) guidelines are often used as the basis for genomic clinical decision support (CDS) rules, the development of which is very labor-intensive. Currently, each adopting site must interpret the guideline content individually because electronic medical record (EMR) systems use proprietary syntaxes for CDS rules. This can result in variations in CDS logic among sites, leading to inconsistencies in patient care and complicating future outcomes studies of PGx-guided therapy. Given the pace at which existing guidelines are updated and the rate of publication of new PGx guidelines, the current process of disseminating PGx knowledge and translating it into clinical practice is not scalable. We are developing methods that utilize emerging standards to enable the generation and dissemination of PGx CDS algorithms that can be shared across EMR systems. This work is done in collaboration with Arizona State University and Health Level Seven International (HL7).

Evaluating the outcomes of genomic CDS

It is necessary to scientifically evaluate genomic clinical decision support (CDS) implementations to quantify their impact on patient care. In partnership with the Mayo Clinic Clinical Decision Support Team and the Translational Pharmacogenetics Project within the Pharmacogenomics Research Network, we are extracting and curating electronic medical record data related to pharmacogenomic (PGx) outcomes. This project will provide critical feedback on our existing PGx CDS implementations, and it will inform the development of future genomic CDS interventions.