Preemptive Pharmacogenomic Testing for Precision Medicine

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Preemptive Pharmacogenomic Testing for Precision Medicine Yuan Ji, Jennifer M. Skierka, Joseph H. Blommel, Brenda E. Moore, Douglas L. VanCuyk, Jamie K. Bruflat, Lisa M. Peterson, Tamra L. Veldhuizen, Numrah Fadra, Sandra E. Peterson, Susan A. Lagerstedt, Laura J. Train, Linnea M. Baudhuin, Eric W. Klee, Matthew J. Ferber, Suzette J. Bielinski, Pedro J. Caraballo, Richard M. Weinshilboum, John L. Black The Journal of Molecular Diagnostics Volume 18, Issue 3, Pages 438-445 (May 2016) DOI: 10.1016/j.jmoldx.2016.01.003 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 The RIGHT Protocol study design with a focus on five PGx genes. CDS, clinical decision support; EMR, electronic medical record; NGS, next-generation sequencing; PGx, pharmacogenomics; QC, quality control; RIGHT, Right Drug, Right Dose, Right Time–Using Genomic Data to Individualize Treatment. The Journal of Molecular Diagnostics 2016 18, 438-445DOI: (10.1016/j.jmoldx.2016.01.003) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Distributions of RIGHT subjects in CYP2D6, CYP2C9, CYP2C19, SLCO1B1*5, and VKORC1 categories. Percentage of subjects among the total RIGHT cohort for each of the predicted CYP2D6 (A), CYP2C9 (B), and CYP2C19 (C) metabolizer groups; percentage of subjects among the total RIGHT cohort carrying various genotypes for SLCO1B1*5 (TT, TC, or TT) and VKORC1 SNP rs9923231 (GG, GA, and AA) (D). EM, extensive metabolizer; IM, intermediate metabolizer; PM, poor metabolizer; RIGHT, Right Drug, Right Dose, Right Time–Using Genomic Data to Individualize Treatment; UM, ultrarapid metabolizer. The Journal of Molecular Diagnostics 2016 18, 438-445DOI: (10.1016/j.jmoldx.2016.01.003) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Percentage of RIGHT subjects among groups carrying actionable PGx variants in zero to five of the PGx genes. PGx, pharmacogenomics; RIGHT, Right Drug, Right Dose, Right Time–Using Genomic Data to Individualize Treatment. The Journal of Molecular Diagnostics 2016 18, 438-445DOI: (10.1016/j.jmoldx.2016.01.003) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 4 Examples of CYP2C19 CDS alerts triggered for the RIGHT subjects at the point of care. A: Patient predicted to carry one single actionable PGx variant-triggered alert for one medication, clopidogrel. B: Patient predicted to carry one single actionable PGx variant-triggered alerts for two medications, codeine and tramadol. C: Patient predicted to carry actionable PGx variants in two genes that triggered alerts for several relevant drugs. CDS, clinical decision support; MICS, Mayo Integrated Clinical Systems; PGx, pharmacogenomics; RIGHT, Right Drug, Right Dose, Right Time–Using Genomic Data to Individualize Treatment. The Journal of Molecular Diagnostics 2016 18, 438-445DOI: (10.1016/j.jmoldx.2016.01.003) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions