Laura J. Rasmussen-Torvik 1 , Sarah C. Stallings 2 , Adam S. Gordon 3 , Berta Almoguera 4 , Melissa A. Basford 2 , Suzette J. Bielinski 5 , Ariel Brautbar 6 , Murray Brilliant 6 , David S. Carrell 7 , John Connolly 4 , David R. Crosslin 3 , Kimberly F. Doheny 8 , Carlos J. Gallego 9 , Omri Gottesman 10 , Daniel Seung Kim 3 , Kathleen A. Leppig 7 , Rongling Li 11 , Simon Lin 12 , Shannon Manzi 13 , Ana R. Mejia 10 , Jennifer A. Pacheco 14 , Vivian Pan 14 , Jyotishman Pathak 15 , Cassandra L. Perry 13 , Josh F. Peterson 16 , Cynthia A. Prows 17 , 23 , James Ralston 7 , Luke V. Rasmussen 1 , Marylyn D. Ritchie 18 , Senthilkumar Sadhasivam 19 , 23 , Stuart A. Scott 20 , Maureen Smith 14 , Aida Vega 21 , Alexander A. Vinks 22 , 23 , Simona Volpi 11 , Wendy A. Wolf 13 , 24 , Erwin Bottinger 10 , Rex L. Chisholm 14 , Christopher G. Chute 25 , Jonathan L. Haines 26 , John B. Harley 23 , 27 , 28 , Brendan Keating 4 , Ingrid A. Holm 13 , 24 , 29 , Iftikhar J. Kullo 30 , Gail P. Jarvik 9 , Eric B. Larson 7 , Teri Manolio 11 , Catherine A. McCarty 31 , Deborah A. Nickerson 3 , Steven E. Scherer 32 , Marc S. Williams 33 , Dan M. Roden 34 , Joshua C. Denny 16 , 35
24 June 2014
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 9,000 patients 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 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.