Citations 2
The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems
Luzum, Jasmine A. , Pakyz, R E, Elsey, AR, Haidar, Cyrine E. , Peterson, JF, Whirl‐Carrillo, Michelle , Handelman, SK, Palmer, Kathleen , Pulley, JM, Beller, Michael, Schildcrout, JS, Field, JR, Weitzel, KW, Cooper‐DeHoff, RM, Cavallari, Larisa H. , O'Donnell, PH, Altman, Russ B. , Pereira, Naveen L. , Ratain, MJ, Roden, DM, Embi, PJ, Klein, Teri E. , Johnson, JA, Relling, MV, Wang, L, Weinshilboum, RM, Freimuth, Robert R. , Johnson, Julie A. , Peterson, Josh F. , Schildcrout, Jonathan S. , Elsey, Amanda R., Peterson, JF, Weitzel, KW, Cooper-DeHoff, RM, Ratain, Mark J. , Roden, DM, Sadée, Wolfgang , Relling, Mary V. , Shuldiner, Alan R. , Schildcrout, Jonathan S , Whirl-Carrillo, Michelle , Freimuth, Robert R , Peterson, Josh F , Cavallari, Larisa H , Luzum, Jasmine A , Klein, Teri E
Clinical Pharmacology & Therapeutics | January 16, 2017 | Volume: 102 | Issue: 3 | Pages: 502-510
Numerous pharmacogenetic clinical guidelines and recommendations have been published, but barriers have hindered the clinical implementation of pharmacogenetics. The Translational Pharmacogenetics Program (TPP) of the National Institutes of Health (NIH) Pharmacogenomics Research Network was established in 2011 to catalog and contribute to the development of pharmacogenetic implementations at eight US healthcare systems, with the goal to disseminate real‐world solutions for the barriers to clinical pharmacogenetic implementation. The TPP collected and normalized pharmacogenetic implementation metrics through June 2015, including gene–drug pairs implemented, interpretations of alleles and diplotypes, numbers of tests performed and actionable results, and workflow diagrams. TPP participant institutions developed diverse solutions to overcome many barriers, but the use of Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines provided some consistency among the institutions. The TPP also collected some pharmacogenetic implementation outcomes (scientific, educational, financial, and informatics), which may inform healthcare systems seeking to implement their own pharmacogenetic testing programs.
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network
Crosslin, DR, Owusu‐Obeng, Aniwaa, Wallace, John R. , Almoguera, Berta , Basford, MA, Bielinski, Suzette J. , Carrell, DS, Connolly, John J. , Doheny, KF, Gallego, CJ, Gordon, Allan , Kirby, Jacqueline, Kitchner, Terrie, Manzi, Shannon , Mejia, A R, Pan, Vivian , Perry, Cassandra, Peterson, JF, Prows, CA, Ralston, James D. , Scott, Stuart A. , Scrol, Aaron, Smith, Maureen E. , Stallings, SC, Veldhuizen, Tamra L., Wolf, W.A., Volpi, Simona , Wiley, Kenneth L , Manolio, Teri A. , Böttinger, Erwin P. , Brilliant, MH, Carey, David J. , Chisholm, Rex L. , Chute, CG, Jl, Haines, Håkonarson, Håkon , Harley, JB, Holm, Ingrid A. , Kullo, IJ, Jarvik, GP, Larson, EB, McCarty, Catherine A. , Williams, MS, Denny, Joshua C. , Rasmussen‐Torvik, LJ, Roden, DM, Ritchie, MD, Rasmussen‐Torvik, Laura J. , Jarvik, Gail P. , Peterson, Josh F. , Bush, William S. , Wallace, J, Crawford, Dana C. , Keating, Brendan J. , Perry, CL, Peterson, JF, Stallings, SC, Li, R, Roden, DM, Ritchie, M.D., Holm, Ingrid A , Hakonarson, Hakon , Denny, Joshua C , Jarvik, Gail P , Bielinski, Suzette , Gordon, Adam S , Connolly, John J , Peterson, Josh F , Scott, Stuart A , Rasmussen-Torvik, Laura J
Clinical Pharmacology & Therapeutics | February 9, 2016 | Volume: 100 | Issue: 2 | Pages: 160-169
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants affect drug response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research Network, began eMERGE‐PGx, a targeted sequencing study to assess genetic variation in 82 pharmacogenes critical for implementation of “precision medicine.” The February 2015 eMERGE‐PGx data release includes sequence‐derived data from ∼5,000 clinical subjects. We present the variant frequency spectrum categorized by variant type, ancestry, and predicted function. We found 95.12% of genes have variants with a scaled Combined Annotation‐Dependent Depletion score above 20, and 96.19% of all samples had one or more Clinical Pharmacogenetics Implementation Consortium Level A actionable variants. These data highlight the distribution and scope of genetic variation in relevant pharmacogenes, identifying challenges associated with implementing clinical sequencing for drug treatment at a broader level, underscoring the importance for multifaceted research in the execution of precision medicine.