A Clinician-Driven Automated System for Integration of Pharmacogenetic Interpretations Into an Electronic Medical Record

Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Clinical Pharmacology &#38 Therapeutics (Impact Factor: 7.9). 09/2012; 92(5):563-6. DOI: 10.1038/clpt.2012.140
Source: PubMed


Advances in pharmacogenetic testing will expand the number of clinically important pharmacogenetic variants. Communication and interpretation of these test results are critical steps in implementation of pharmacogenetics into the clinic. Computational tools that integrate directly into the electronic medical record (EMR) are needed to translate the growing number of genetic variants into interpretive consultations to facilitate gene-based drug prescribing. Herein, we describe processes for incorporating pharmacogenetic tests and interpretations into the EMR for clinical practice.Clinical Pharmacology & Therapeutics (2012); advance online publication 19 September 2012. doi:10.1038/clpt.2012.140.

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Available from: Cyrine E Haidar, Jan 06, 2014
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    • "The purpose of the protocol is to selectively migrate microarray-based genotypes for clinically relevant genes into each patient's electronic medical record pre-emptively. By leveraging ‘look up’ translation tables created by the Translational Pharmacogenetics Project (TPP) [34], a PGRN-led initiative with the goal of operationalizing the work of the Clinical Pharmacogenetics Implementation Consortium (CPIC) [35] by translating widely accepted actionable PGx discoveries into real-world clinical practice, they assigned phenotypes to each unique CYP2D6 or TPMT diplotype based on assessments of functional allele activity [36]. "
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    ABSTRACT: In the post-genomic era, the rapid evolution of high-throughput genotyping technologies and the increased pace of production of genetic research data are continually prompting the development of appropriate informatics tools, systems and databases as we attempt to cope with the flood of incoming genetic information. Alongside new technologies that serve to enhance data connectivity, emerging information systems should contribute to the creation of a powerful knowledge environment for genotype-to-phenotype information in the context of translational medicine. In the area of pharmacogenomics and personalized medicine, it has become evident that database applications providing important information on the occurrence and consequences of gene variants involved in pharmacokinetics, pharmacodynamics, drug efficacy and drug toxicity will become an integral tool for researchers and medical practitioners alike. At the same time, two fundamental issues are inextricably linked to current developments, namely data sharing and data protection. Here, we discuss high-throughput and next-generation sequencing technology and its impact on pharmacogenomics research. In addition, we present advances and challenges in the field of pharmacogenomics information systems which have in turn triggered the development of an integrated electronic 'pharmacogenomics assistant'. The system is designed to provide personalized drug recommendations based on linked genotype-to-phenotype pharmacogenomics data, as well as to support biomedical researchers in the identification of pharmacogenomics-related gene variants. The provisioned services are tuned in the framework of a single-access pharmacogenomics portal.
    Open Biology 07/2014; 4(7). DOI:10.1098/rsob.140071 · 5.78 Impact Factor
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    • "The text of each consult includes five standard sections with a placeholder for patient-specific comments to be manually added by the verifying pharmacist as needed. These five standard sections include a phenotype assignment section, an interpretation of the diplotype, a dosing recommendation section, an activity score section when appropriate, and a link to the PG4KDS webpage for more information [Hicks et al., 2012]. For example, for CYP2D6 and TPMT, Consult Builder contains a library of over 200 predefined clinical pharmacogenetic consults, which we have further translated into seven possible CYP2D6 and four possible TPMT phenotypes; that are then categorized as " routine " or " priority. "
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    ABSTRACT: Pharmacogenetics is frequently cited as an area for initial focus of the clinical implementation of genomics. Through the PG4KDS protocol, St. Jude Children's Research Hospital pre-emptively genotypes patients for 230 genes using the Affymetrix Drug Metabolizing Enzymes and Transporters (DMET) Plus array supplemented with a CYP2D6 copy number assay. The PG4KDS protocol provides a rational, stepwise process for implementing gene/drug pairs, organizing data, and obtaining consent from patients and families. Through August 2013, 1,559 patients have been enrolled, and four gene tests have been released into the electronic health record (EHR) for clinical implementation: TPMT, CYP2D6, SLCO1B1, and CYP2C19. These genes are coupled to 12 high-risk drugs. Of the 1,016 patients with genotype test results available, 78% of them had at least one high-risk (i.e., actionable) genotype result placed in their EHR. Each diplotype result released to the EHR is coupled with an interpretive consult that is created in a concise, standardized format. To support-gene based prescribing at the point of care, 55 interruptive clinical decision support (CDS) alerts were developed. Patients are informed of their genotyping result and its relevance to their medication use through a letter. Key elements necessary for our successful implementation have included strong institutional support, a knowledgeable clinical laboratory, a process to manage any incidental findings, a strategy to educate clinicians and patients, a process to return results, and extensive use of informatics, especially CDS. Our approach to pre-emptive clinical pharmacogenetics has proven feasible, clinically useful, and scalable. © 2014 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 03/2014; 166(1). DOI:10.1002/ajmg.c.31391 · 3.91 Impact Factor
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    • "The importance of healthcare informatics for implementation of pharmacogenomics in clinical practice could not be overemphasized. At the level of patient care, integration of genotyping order template and/or genotype result into a robust system of electronic medical record (EMR) with pop-up action alert and order templates for actionable pharmacogenomic tests to be used by physicians will be necessary [113, 114]. At the level of research, the health information technology would enable organizational management of all research data and accessibility by the EMR [115–118]. "
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    ABSTRACT: The mapping of the human genome and subsequent advancements in genetic technology had provided clinicians and scientists an understanding of the genetic basis of altered drug pharmacokinetics and pharmacodynamics, as well as some examples of applying genomic data in clinical practice. This has raised the public expectation that predicting patients' responses to drug therapy is now possible in every therapeutic area, and personalized drug therapy would come sooner than later. However, debate continues among most stakeholders involved in drug development and clinical decision-making on whether pharmacogenomic biomarkers should be used in patient assessment, as well as when and in whom to use the biomarker-based diagnostic tests. Currently, most would agree that achieving the goal of personalized therapy remains years, if not decades, away. Realistic application of genomic findings and technologies in clinical practice and drug development require addressing multiple logistics and challenges that go beyond discovery of gene variants and/or completion of prospective controlled clinical trials. The goal of personalized medicine can only be achieved when all stakeholders in the field work together, with willingness to accept occasional paradigm change in their current approach.
    02/2013; 2013(8):641089. DOI:10.1155/2013/641089
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