Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

L. V. Kalman; J. A.G. Agúndez; M. Lindqvist Appell; J. L. Black; G. C. Bell; S. Boukouvala; C. Bruckner; E. Bruford; K. Caudle; S. A. Coulthard; A. K. Daly; A. L. Del Tredici; J. T. Den Dunnen; K. Drozda; R. E. Everts; D. Flockhart; R. R. Freimuth; A. Gaedigk; H. Hachad; T. Hartshorne; M. Ingelman-Sundberg; T. E. Klein; V. M. Lauschke; D. R. Maglott; H. L. McLeod; G. A. McMillin; U. A. Meyer; D. J. Müller; D. A. Nickerson; W. S. Oetting; M. Pacanowski; V. M. Pratt; M. V. Relling; A. Roberts; W. S. Rubinstein; K. Sangkuhl; M. Schwab; S. A. Scott; S. C. Sim; R. K. Thirumaran; L. H. Toji; R. F. Tyndale; R. H.N. Van Schaik; M. Whirl-Carrillo; K. T.J. Yeo; U. M. Zanger

doi:10.1002/cpt.280

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

L. V. Kalman, J. A.G. Agúndez, M. Lindqvist Appell, J. L. Black, G. C. Bell, S. Boukouvala, C. Bruckner, E. Bruford, K. Caudle, S. A. Coulthard, A. K. Daly, A. L. Del Tredici, J. T. Den Dunnen, K. Drozda, R. E. Everts, D. Flockhart, R. R. Freimuth, A. Gaedigk, H. Hachad, T. HartshorneM. Ingelman-Sundberg, T. E. Klein, V. M. Lauschke, D. R. Maglott, H. L. McLeod, G. A. McMillin, U. A. Meyer, D. J. Müller, D. A. Nickerson, W. S. Oetting, M. Pacanowski, V. M. Pratt, M. V. Relling, A. Roberts, W. S. Rubinstein, K. Sangkuhl, M. Schwab, S. A. Scott, S. C. Sim, R. K. Thirumaran, L. H. Toji, R. F. Tyndale, R. H.N. Van Schaik, M. Whirl-Carrillo, K. T.J. Yeo, U. M. Zanger

Experimental and Clinical Pharmacology

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Abstract

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.

Original language	English (US)
Pages (from-to)	172-185
Number of pages	14
Journal	Clinical pharmacology and therapeutics
Volume	99
Issue number	2
DOIs	https://doi.org/10.1002/cpt.280
State	Published - Feb 1 2016

Bibliographical note

Funding Information:
The authors thank Rosane Charlab Orbach and Anuradha Ramamoorthy for thoughtful comments on the manuscript and also Alain Silk, Kellie Kelm and _Zivana Te_zak from FDA’s Center for Devices and Radiological Health for participating in the working group and providing comments on the manuscript. J.A.G.A. acknowledges financial support from RD12/0013/ 0002, ISCIII, and FEDER. T.E.K., K.S., and M.W.C. acknowledge financial support from NIH NIGMS R24 GM61374. This work was funded in part by the NIH/NIGMS (U19 GM61388; the Pharmacogenomics Research Network) (R.R.F.) and R24GM115264 (M.V.R., K.E.C., T.E.K., and M.W.C.). V.M.L. was supported by a MarieCurie IEF fellowship for career development in the context of the European FP7 framework programme. S.A.S. was supported by the National Institute of General Medical Sciences (NIGMS) of the National Institutes of Health (NIH) through grant K23 GM104401. M.S. and U.M.Z. were supported by the Robert Bosch Foundation, Stuttgart, Germany. A.G. acknowledges financial support from 2 R01 GM088076-05 and R01 DA035736. This research was supported (in part) by the Intramural Research Program of the NIH, National Library of Medicine. E.B. was funded by the National Human Genome Research Institute (NHGRI) grant U41HG003345 and Wellcome Trust grant 099129/Z/12/Z. This work was also supported by the IGNITE project grant U01HG007762 (V.M.P.). V.M.P. was supported by the Indiana University Health – Indiana University School of Medicine Strategic Research Initiative. PharmGKB is supported by the NIH/NIGMS R24 GM61374.

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Kalman, L. V., Agúndez, J. A. G., Appell, M. L., Black, J. L., Bell, G. C., Boukouvala, S., Bruckner, C., Bruford, E., Caudle, K., Coulthard, S. A., Daly, A. K., Del Tredici, A. L., Den Dunnen, J. T., Drozda, K., Everts, R. E., Flockhart, D., Freimuth, R. R., Gaedigk, A., Hachad, H., ... Zanger, U. M. (2016). Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting. Clinical pharmacology and therapeutics, 99(2), 172-185. https://doi.org/10.1002/cpt.280

Kalman, LV, Agúndez, JAG, Appell, ML, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Del Tredici, AL, Den Dunnen, JT, Drozda, K, Everts, RE, Flockhart, D, Freimuth, RR, Gaedigk, A, Hachad, H, Hartshorne, T, Ingelman-Sundberg, M, Klein, TE, Lauschke, VM, Maglott, DR, McLeod, HL, McMillin, GA, Meyer, UA, Müller, DJ, Nickerson, DA, Oetting, WS, Pacanowski, M, Pratt, VM, Relling, MV, Roberts, A, Rubinstein, WS, Sangkuhl, K, Schwab, M, Scott, SA, Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, RF, Van Schaik, RHN, Whirl-Carrillo, M, Yeo, KTJ & Zanger, UM 2016, 'Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting', Clinical pharmacology and therapeutics, vol. 99, no. 2, pp. 172-185. https://doi.org/10.1002/cpt.280

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abstract = "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.",

author = "Kalman, {L. V.} and Ag{\'u}ndez, {J. A.G.} and Appell, {M. Lindqvist} and Black, {J. L.} and Bell, {G. C.} and S. Boukouvala and C. Bruckner and E. Bruford and K. Caudle and Coulthard, {S. A.} and Daly, {A. K.} and {Del Tredici}, {A. L.} and {Den Dunnen}, {J. T.} and K. Drozda and Everts, {R. E.} and D. Flockhart and Freimuth, {R. R.} and A. Gaedigk and H. Hachad and T. Hartshorne and M. Ingelman-Sundberg and Klein, {T. E.} and Lauschke, {V. M.} and Maglott, {D. R.} and McLeod, {H. L.} and McMillin, {G. A.} and Meyer, {U. A.} and M{\"u}ller, {D. J.} and Nickerson, {D. A.} and Oetting, {W. S.} and M. Pacanowski and Pratt, {V. M.} and Relling, {M. V.} and A. Roberts and Rubinstein, {W. S.} and K. Sangkuhl and M. Schwab and Scott, {S. A.} and Sim, {S. C.} and Thirumaran, {R. K.} and Toji, {L. H.} and Tyndale, {R. F.} and {Van Schaik}, {R. H.N.} and M. Whirl-Carrillo and Yeo, {K. T.J.} and Zanger, {U. M.}",

note = "Funding Information: The authors thank Rosane Charlab Orbach and Anuradha Ramamoorthy for thoughtful comments on the manuscript and also Alain Silk, Kellie Kelm and _Zivana Te_zak from FDA{\textquoteright}s Center for Devices and Radiological Health for participating in the working group and providing comments on the manuscript. J.A.G.A. acknowledges financial support from RD12/0013/ 0002, ISCIII, and FEDER. T.E.K., K.S., and M.W.C. acknowledge financial support from NIH NIGMS R24 GM61374. This work was funded in part by the NIH/NIGMS (U19 GM61388; the Pharmacogenomics Research Network) (R.R.F.) and R24GM115264 (M.V.R., K.E.C., T.E.K., and M.W.C.). V.M.L. was supported by a MarieCurie IEF fellowship for career development in the context of the European FP7 framework programme. S.A.S. was supported by the National Institute of General Medical Sciences (NIGMS) of the National Institutes of Health (NIH) through grant K23 GM104401. M.S. and U.M.Z. were supported by the Robert Bosch Foundation, Stuttgart, Germany. A.G. acknowledges financial support from 2 R01 GM088076-05 and R01 DA035736. This research was supported (in part) by the Intramural Research Program of the NIH, National Library of Medicine. E.B. was funded by the National Human Genome Research Institute (NHGRI) grant U41HG003345 and Wellcome Trust grant 099129/Z/12/Z. This work was also supported by the IGNITE project grant U01HG007762 (V.M.P.). V.M.P. was supported by the Indiana University Health – Indiana University School of Medicine Strategic Research Initiative. PharmGKB is supported by the NIH/NIGMS R24 GM61374.",

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doi = "10.1002/cpt.280",

language = "English (US)",

volume = "99",

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T1 - Pharmacogenetic Allele Nomenclature

T2 - International Workgroup Recommendations for Test Result Reporting

AU - Kalman, L. V.

AU - Agúndez, J. A.G.

AU - Appell, M. Lindqvist

AU - Black, J. L.

AU - Bell, G. C.

AU - Boukouvala, S.

AU - Bruckner, C.

AU - Bruford, E.

AU - Caudle, K.

AU - Coulthard, S. A.

AU - Daly, A. K.

AU - Del Tredici, A. L.

AU - Den Dunnen, J. T.

AU - Drozda, K.

AU - Everts, R. E.

AU - Flockhart, D.

AU - Freimuth, R. R.

AU - Gaedigk, A.

AU - Hachad, H.

AU - Hartshorne, T.

AU - Ingelman-Sundberg, M.

AU - Klein, T. E.

AU - Lauschke, V. M.

AU - Maglott, D. R.

AU - McLeod, H. L.

AU - McMillin, G. A.

AU - Meyer, U. A.

AU - Müller, D. J.

AU - Nickerson, D. A.

AU - Oetting, W. S.

AU - Pacanowski, M.

AU - Pratt, V. M.

AU - Relling, M. V.

AU - Roberts, A.

AU - Rubinstein, W. S.

AU - Sangkuhl, K.

AU - Schwab, M.

AU - Scott, S. A.

AU - Sim, S. C.

AU - Thirumaran, R. K.

AU - Toji, L. H.

AU - Tyndale, R. F.

AU - Van Schaik, R. H.N.

AU - Whirl-Carrillo, M.

AU - Yeo, K. T.J.

AU - Zanger, U. M.

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Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

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