Citations 12
Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC)
Hoffman, James M. , Dunnenberger, Henry M. , Hicks, J. Kevin , Caudle, Kelly E. , Whirl‐Carrillo, Michelle , Freimuth, Robert R. , Klein, Teri E. , Peterson, Josh F. , Williams, Marc S , Whirl-Carrillo, Michelle , Dunnenberger, Henry M , Freimuth, Robert R , Peterson, Josh F , Klein, Teri E
Journal of the American Medical Informatics Association | March 30, 2016 | Volume: 23 | Issue: 4 | Pages: 796-801
Abstract To move beyond a select few genes/drugs, the successful adoption of pharmacogenomics into routine clinical care requires a curated and machine-readable database of pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with clinical decision support (CDS). Recognizing that EHR vendors do not yet provide a standard set of CDS functions for pharmacogenetics, the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing and systematically incorporating a set of EHR-agnostic implementation resources into all CPIC guidelines. These resources illustrate how to integrate pharmacogenomic test results in clinical information systems with CDS to facilitate the use of patient genomic data at the point of care. Based on our collective experience creating existing CPIC resources and implementing pharmacogenomics at our practice sites, we outline principles to define the key features of future knowledge bases and discuss the importance of these knowledge resources for pharmacogenomics and ultimately precision medicine.
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
Kalman, LV, Agúndez, JAG, Appell, Malin Lindqvist , Black, J.H., Bell, GC, Boukouvala, Sotiria , Bruckner, Carsten, Bruford, Elspeth A. , Caudle, KE, Coulthard, SA, Daly, Ann K. , Tredici, AL Del, Dunnen, Johan T. den , Drozda, Katarzyna, Everts, Robin E. , Flockhart, David A., Freimuth, Robert R. , Hachad, Houda , Hartshorne, Toinette, Ingelman‐Sundberg, Magnus , Klein, Teri E. , Lauschke, Volker M. , Maglott, DR, McLeod, HL, McMillin, GA, Ua, Meyer, Dj, Müller, Nickerson, D. A., Oetting, WS , Pacanowski, MA, Vm, Pratt, Relling, MV, Roberts, Angharad M. , Ws, Rubinstein, Sangkuhl, Katrin , Schwab, Matthias , Scott, Stuart A. , Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, Rachel F. , Schaik, RHN van, Whirl‐Carrillo, Michelle , Yeo, K. L. B., Zanger, UM, Agúndez, José A. G. , Müller, Daniel J. , Agúndez, JAG, Gaedigk, Andrea , Relling, Mary V. , Toji, Lorraine H., Whirl-Carrillo, Michelle , Agúndez, José A G , Hachad, Houda , Müller, Daniel J , Tyndale, Rachel F , Freimuth, Robert R , Klein, Teri E , Scott, Stuart A , Schwab, Matthias
Clinical Pharmacology & Therapeutics | October 20, 2015 | Volume: 99 | Issue: 2 | Pages: 172-185
This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.