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      Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).

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          Abstract

          Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes.

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          Most cited references39

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          The Delphi method as a research tool: an example, design considerations and applications

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            Pharmacogenomics in the clinic.

            After decades of discovery, inherited variations have been identified in approximately 20 genes that affect about 80 medications and are actionable in the clinic. And some somatically acquired genetic variants direct the choice of 'targeted' anticancer drugs for individual patients. Current efforts that focus on the processes required to appropriately act on pharmacogenomic variability in the clinic are moving away from discovery and towards implementation of an evidenced-based strategy for improving the use of medications, thereby providing a cornerstone for precision medicine.
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              Consensus measurement in Delphi studies

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                Author and article information

                Journal
                Genet. Med.
                Genetics in medicine : official journal of the American College of Medical Genetics
                Springer Nature
                1530-0366
                1098-3600
                Feb 2017
                : 19
                : 2
                Affiliations
                [1 ] Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
                [2 ] Center for Molecular Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
                [3 ] Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
                [4 ] Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
                [5 ] Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
                [6 ] Department of Genetics, Stanford University, Stanford, California, USA.
                [7 ] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
                [8 ] Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
                [9 ] Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
                Article
                gim201687 NIHMS791384
                10.1038/gim.2016.87
                5253119
                27441996
                68cde36f-e050-47f2-b13c-ae7136b4e855
                History

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