Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems.

Rasmussen-Torvik LJ1, Stallings SC2, Gordon AS3, Almoguera B4, Basford MA2, Bielinski SJ5, Brautbar A6, Brilliant M6, Carrell DS7, Connolly J4, Crosslin DR3, Doheny KF8, Gallego CJ9, Gottesman O10, Kim DS3, Leppig KA7, Li R11, Lin S12, Manzi S13, Mejia AR10, Pacheco JA14, Pan V14, Pathak J15, Perry CL13,Peterson JF16, Prows CA17, Ralston J7, Rasmussen LV1, Ritchie MD18, Sadhasivam S19, Scott SA20, Smith M14, Vega A21, Vinks AA22, Volpi S11, Wolf WA23,Bottinger E10, Chisholm RL14, Chute CG24, Haines JL25, Harley JB26, Keating B4, Holm IA27, Kullo IJ28, Jarvik GP9, Larson EB7, Manolio T11, McCarty CA29,Nickerson DA3, Scherer SE30, Williams MS31, Roden DM32, Denny JC33.

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Abstract

We describe here the design and initial implementation of the eMERGE-PGx project. eMERGE-PGx, a partnership of the eMERGE and PGRN consortia, has three objectives : 1) Deploy PGRNseq, a next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, in nearly 9,000patients likely to be prescribed drugs of interest in a 1-3 year timeframe across several clinical sites; 2) Integrate well-established clinically-validated pharmacogenetic genotypes into the electronic health record with associated clinical decision support and assess process and clinical outcomes of implementation; and 3) Develop a repository of pharmacogenetic variants of unknown significance linked to a repository of an EHR-based clinical phenotype data for ongoing pharmacogenomics discovery. We describe site-specific project implementation and anticipated products, including genetic variant and phenotype data repositories, novel variant association studies, clinical decision support modules, clinical and process outcomes, approaches to manage incidental findings, and patient and clinician education methods.Clinical Pharmacology & Therapeutics (2014); Accepted article preview online 24 June 2014; doi:10.1038/clpt.2014.138.