Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Adam A NishimuraPeter Tarczy-Hornoch

Abstract

Electronic health records (EHRs) and their associated decision support tools are potentially important means of disseminating a patient's pharmacogenomic profile to his or her health-care providers. We sought to create a proof-of-concept decision support alert system generated from pharmacogenomic incidental findings from exome sequencing. A pipeline for alerts from exome sequencing tests was created for patients in the New EXome Technology in (NEXT) Medicine study at the University of Washington. Decision support rules using discrete, machine-readable incidental finding results were programmed into a commercial EHR rules engine. An evaluation plan to monitor the alerts in real medical interactions was established. Alerts were created for 48 actionable pharmacogenomic variants in 11 genes and were launched on 24 September 2014 for University of Washington inpatient care. Of the 94 participants enrolled in the NEXT Medicine study, 49 had one or more pharmacogenomic variants identified for return. Reflections on the process reveal that while incidental findings can be used to generate decision support alerts, substantial resources are required to ensure that each alert is consistent with rapidly evolving pharmacogenomic literatur...Continue Reading

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Citations

Dec 9, 2015·International Journal of Medical Informatics·Adam A NishimuraPeter Tarczy-Hornoch
Jun 3, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elizabeth M J LeeMurat Sincan
Sep 22, 2018·The Journal of Dermatological Treatment·Le Hanh Dung Do, Howard Maibach
Feb 20, 2019·Journal of the American Medical Informatics Association : JAMIA·Luke V RasmussenJustin B Starren
Sep 28, 2017·Expert Review of Pharmacoeconomics & Outcomes Research·Ann M Moyer, Pedro J Caraballo
Mar 17, 2017·Annual Review of Genomics and Human Genetics·Judith G Hall
May 8, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·A Cecile J W Janssens, James P Evans

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