Details:

Alternative Title:
Clin Pharmacol Ther
Publisher's site:
http://dx.doi.org/10.1002/cpt.280
Personal Author:
Kalman, Lisa V. ; Agúndez, José A.G. ; Appell, Malin Lindqvist ; Black, John Logan ; Bell, Gillian C. ; ... More +
Kalman, Lisa V. ; Agúndez, José A.G. ; Appell, Malin Lindqvist ; Black, John Logan ; Bell, Gillian C. ; Boukouvala, Sotiria ; Bruckner, Carsten ; Bruford, Elspeth ; Bruckner, Carsten ; Caudle, Kelly ; Coulthard, Sally ; Daly, Ann K. ; Del Tredici, Andria L. ; den Dunnen, Johan T ; Drozda, Katarzyna ; Everts, Robin ; Flockhart, David ; Freimuth, Robert ; Gaedigk, Andrea ; Hachad, Houda ; Hartshorne, Toinette ; Ingelman-Sundberg, Magnus ; Klein, Teri E. ; Lauschke, Volker M. ; Maglott, Donna R. ; McLeod, Howard L. ; McMillin, Gwendolyn A. ; Meyer, Urs A. ; Müller, Daniel J. ; Nickerson, Deborah A. ; Oetting, William S. ; Pacanowski, Michael ; Pratt, Victoria M. ; Relling, Mary V. ; Roberts, Ali ; Rubinstein, Wendy S. ; Sangkuhl, Katrin ; Schwab, Matthias ; Scott, Stuart A. ; Sim, Sarah C ; Thirumaran, Ranjit K ; Toji, Lorraine H. ; Tyndale, Rachel ; van Schaik, Ron HN ; Whirl-Carrillo, Michelle ; Yeo, Kiang-Teck J ; Zanger, Ulrich M. Less -
Description:
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.
Subject:
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Alleles
Article
Genes
Genetic Testing
Genetic Variation
Humans
Nomenclature
Pharmacogenetic PGx Testing
Pharmacogenetics
Precision Medicine
Terminology As Topic
Test Result Reporting
Variant Description

Source:
Clin Pharmacol Ther. 99(2):172-185.
Pubmed ID:
26479518
Pubmed Central ID:
PMC4724253
Document Type:
Journal Article
Funding:
U19 GM061388/GM/NIGMS NIH HHS/United States ; R24 GM061374/GM/NIGMS NIH HHS/United States ; 2 R01 GM088076-05/GM/NIGMS NIH HHS/United States ; U19 GM61388/GM/NIGMS NIH HHS/United States ; R01 GM088076/GM/NIGMS NIH HHS/United States ; ... More +
U19 GM061388/GM/NIGMS NIH HHS/United States ; R24 GM061374/GM/NIGMS NIH HHS/United States ; 2 R01 GM088076-05/GM/NIGMS NIH HHS/United States ; U19 GM61388/GM/NIGMS NIH HHS/United States ; R01 GM088076/GM/NIGMS NIH HHS/United States ; U41 HG003345/HG/NHGRI NIH HHS/United States ; R24 GM115264/GM/NIGMS NIH HHS/United States ; R01 DA035736/DA/NIDA NIH HHS/United States ; U01HG007762/HG/NHGRI NIH HHS/United States ; P30 CA021765/CA/NCI NIH HHS/United States ; CC999999/Intramural CDC HHS/United States ; R24GM115264/GM/NIGMS NIH HHS/United States ; K23 GM104401/GM/NIGMS NIH HHS/United States ; 099129/Z/12/Z/Wellcome Trust/United Kingdom ; U41HG003345/HG/NHGRI NIH HHS/United States ; R24 GM61374/GM/NIGMS NIH HHS/United States ; U01 HG007762/HG/NHGRI NIH HHS/United States Less -
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:02b57824fff01f72766ab9bfb2f9d6d13ce214836492f6815b09521aa0752a39
File Type:

Supporting Files

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