Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems

Rasmussen‐Torvik, Laura J.; Stallings, Sarah; Gordon, Adam S.; Almoguera, Berta; Basford, Melissa A.; Bielinski, Suzette J.; Brautbar, Ariel; Brilliant, Murray H.; Carrell, David; Connolly, John J.; Crosslin, David R.; Doheny, Kimberly F.; Gallego, Carlos J.; Gottesman, Omri; Kim, Daniel S.; Leppig, Kathleen A.; Li, Rongling; Lin, Simon; Manzi, Shannon; Mejia, Ana R.; Pacheco, Jennifer A.; Pan, Vivian; Pathak, Jyotishman; Perry, Cassandra; Peterson, Josh F.; Prows, Cynthia A.; Ralston, James D.; Rasmussen, Luke V.; Ritchie, Marylyn D.; Sadhasivam, Senthilkumar; Scott, Stuart A.; Smith, Maureen E.; Vega, Aida; Vinks, Alexander A.; Volpi, Simona; Wolf, Wendy A.; Böttinger, Erwin P.; Chisholm, Rex L.; Chute, Christopher G.; Haines, Jonathan L.; Harley, John B.; Keating, Brendan J.; Holm, Ingrid A.; Kullo, Iftikhar J.; Jarvik, Gail P.; Larson, Eric B.; Manolio, Teri A.; McCarty, Catherine A.; Nickerson, Deborah A.; Scherer, Steven E.; Williams, Marc S.; Roden, Dan M.; Denny, Joshua C.

doi:10.1038/clpt.2014.137

Cited by 223 publications

(193 citation statements)

References 46 publications

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“…49 Pharmacogeneticsbased prescribing strategies for medications other than codeine may similarly benefit other special needs pediatric populations. Although our institution-wide strategy to implement preemptive pharmacogenetic testing may not be immediately feasible elsewhere, focusing on high-risk, pharmacogenetically relevant medications frequently used among a specialized patient population (such as SCD) is rational and generalizable.…”

Section: Figurementioning

confidence: 99%

Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

et al. 2016

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After postoperative deaths in children who were prescribed codeine, several pediatric hospitals have removed it from their formularies. These deaths were attributed to atypical cytochrome P450 2D6 (CYP2D6) pharmacogenetics, which is also implicated in poor analgesic response. Because codeine is often prescribed to patients with sickle cell disease and is now the only Schedule III opioid analgesic in the United States, we implemented a precision medicine approach to safely maintain codeine as an option for pain control. Here we describe the implementation of pharmacogenetics-based codeine prescribing that accounts for CYP2D6 metabolizer status. Clinical decision support was implemented within the electronic health record to guide prescribing of codeine with the goal of preventing its use after tonsillectomy or adenoidectomy and in CYP2D6 ultra-rapid and poor metabolizer (high-risk) genotypes. As of June 2015, CYP2D6 genotype results had been reported for 2468 unique patients. Of the 830 patients with sickle cell disease, 621 (75%) had a CYP2D6 genotype result; 7.1% were ultra-rapid or possible ultra-rapid metabolizers, and 1.4% were poor metabolizers. Interruptive alerts recommended against codeine for patients with high-risk CYP2D6 status. None of the patients with an ultra-rapid or poor metabolizer genotype were prescribed codeine. Using genetics to tailor analgesic prescribing retained an important therapeutic option by limiting codeine use to patients who could safely receive and benefit from it. Our efforts represent an evidence-based, innovative medication safety strategy to prevent adverse drug events, which is a model for the use of pharmacogenetics to optimize drug therapy in specialized pediatric populations. abstractDepartments of a Pharmaceutical Sciences, b Hematology, and c Biostatistics, St. Jude Children's Research Hospital, Memphis, Tennessee; and d Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin Dr Gammal collected data, carried out the initial analyses, and drafted the initial manuscript; Drs Crews, Haidar, and Hoffman are coinvestigators on the PG4KDS study; they supervised the collection and analysis of data and critically reviewed and revised the manuscript; Dr Baker created the clinical decision support alerts, collected data, and critically reviewed the manuscript; Drs Barker, Estepp, Wang, and Weiss critically reviewed and revised the manuscript; Ms Pei designed and conducted the statistical analysis; Dr Broeckel supervises all PG4KDS-related genotyping; Dr Relling conceptualized and designed the PG4KDS study, supervised the collection and analysis of data, and critically reviewed and revised the manuscript; Dr Hankins conceptualized and designed the study and critically reviewed and revised the manuscript; and all authors approved the fi nal manuscript as submitted. The use of codeine in pediatric medicine has been questioned following reports of postoperative deaths in children who were prescribed codeine and the subsequent US Food and Drug Admin...

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Section: Figurementioning

confidence: 99%

Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

et al. 2016

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“…Efforts in this realm are already underway including the Electronic Medical Records and Genomics (eMERGE) Network, a National Human Genome Research Institutefunded consortium. 3 Digital technologies are becoming increasingly used for healthcare studies and clinical care and thus are also an important precision medicine tool. These emerging electronic communication and information technologies, broadly termed eHealth, include the Internet and mHealth (mobile phones and wearable devices for interactive communication and monitoring of physiological and other data).…”

Section: Precision Cardiovascular Care: the Toolboxmentioning

confidence: 99%

Opportunities for the Cardiovascular Community in the Precision Medicine Initiative

et al. 2016

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Abstract-The Precision Medicine Initiative recently announced by President Barack Obama seeks to move the field of precision medicine more rapidly into clinical care. Precision medicine revolves around the concept of integrating individuallevel data including genomics, biomarkers, lifestyle and other environmental factors, wearable device physiological data, and information from electronic health records to ultimately provide better clinical care to individual patients. The Precision Medicine Initiative as currently structured will primarily fund efforts in cancer genomics with longer-term goals of advancing precision medicine to all areas of health, and will be supported through creation of a 1 million person cohort study across the United States. This focused effort on precision medicine provides scientists, clinicians, and patients within the cardiovascular community an opportunity to work together boldly to advance clinical care; the community needs to be aware and engaged in the process as it progresses. This article provides a framework for potential involvement of the cardiovascular community in the Precision Medicine Initiative, while highlighting significant challenges for its successful implementation.

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“…Recent years has seen the expansion of precision medicine, with the collection of full genomic sequence data for pharmacogenomics studies (Bush et al 2016;Rasmussen-Torvik et al 2014). Given the dramatic and rapid expansion of knowledge in this area, it is now widely accepted that physicians cannot digest the literature fast enough to implement research findings in clinical practice (Johansen Taber and Dickinson 2014).…”

Section: Introductionmentioning

confidence: 99%

Integrating Community-Level Data Resources for Precision Medicine Research

et al. 2017

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Precision Medicine focuses on collecting and using individual-level data to improve healthcare outcomes. To date, research efforts have been motivated by molecular-scale measurements, such as incorporating genomic data into clinical use. In many cases however, environmental, social, and economic factors are much more predictive of health outcomes, yet are not systematically used in clinical practice due to the difficulties in measurement and quantification. Advances in both the availability of electronic health information, environmental exposure data, and the more systematic use of geo-coding now provide ways to systematically assess community-level indicators of health, and link these factors to electronic health records for evaluating their influence on disease outcomes. In this workshop, we discuss new electronic sources of community-level data, and provide insight into their utility and validity when compared with gold-standard data collection approaches.

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Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems

Cited by 223 publications

References 46 publications

Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

Opportunities for the Cardiovascular Community in the Precision Medicine Initiative

Integrating Community-Level Data Resources for Precision Medicine Research

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