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Volumn 19, Issue 2, 2017, Pages 215-223

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

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CONSENSUS; DECISION SUPPORT SYSTEM; DELPHI STUDY; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; NOMENCLATURE; PHARMACOGENETICS; PHENOTYPE; SCIENTIST; ELECTRONIC HEALTH RECORD; QUESTIONNAIRE; STANDARDS;

EID: 85011846544     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.87     Document Type: Article
Times cited : (378)

References (40)
  • 1
    • 84953343333 scopus 로고    scopus 로고
    • Report of the AMIA EHR-2020 Task Force on the status and future direction of EHRs
    • Payne TH, Corley S, Cullen TA, et al. Report of the AMIA EHR-2020 Task Force on the status and future direction of EHRs. J Am Med Inform Assoc 2015;22: 1102-1110.
    • (2015) J Am Med Inform Assoc , vol.22 , pp. 1102-1110
    • Payne, T.H.1    Corley, S.2    Cullen, T.A.3
  • 2
    • 84857165460 scopus 로고    scopus 로고
    • Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus
    • Wei WQ, Leibson CL, Ransom JE, et al. Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus. J Am Med Inform Assoc 2012;19:219-224.
    • (2012) J Am Med Inform Assoc , vol.19 , pp. 219-224
    • Wei, W.Q.1    Leibson, C.L.2    Ransom, J.E.3
  • 3
    • 84944311937 scopus 로고    scopus 로고
    • Pharmacogenomics in the clinic
    • Relling M V, Evans WE. Pharmacogenomics in the clinic. Nature. 2015;526: 343-350.
    • (2015) Nature. , vol.526 , pp. 343-350
    • Relling, M.V.1    Evans, W.E.2
  • 4
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 5
    • 84930526399 scopus 로고    scopus 로고
    • ClinGen-The Clinical Genome Resource
    • ClinGen
    • Rehm HL, Berg JS, Brooks LD, et al.; ClinGen. ClinGen-the Clinical Genome Resource. N Engl J Med 2015;372:2235-2242.
    • (2015) N Engl J Med , vol.372 , pp. 2235-2242
    • Rehm, H.L.1    Berg, J.S.2    Brooks, L.D.3
  • 6
    • 84900854522 scopus 로고    scopus 로고
    • Incorporation of pharmacogenomics into routine clinical practice: The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process
    • Caudle KE, Klein TE, Hoffman JM, et al. Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr Drug Metab 2014;15:209-217.
    • (2014) Curr Drug Metab , vol.15 , pp. 209-217
    • Caudle, K.E.1    Klein, T.E.2    Hoffman, J.M.3
  • 7
    • 84952940623 scopus 로고    scopus 로고
    • CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record
    • Shirts BH, Salama JS, Aronson SJ, et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc 2015;22:1231-1242.
    • (2015) J Am Med Inform Assoc , vol.22 , pp. 1231-1242
    • Shirts, B.H.1    Salama, J.S.2    Aronson, S.J.3
  • 8
    • 0001536179 scopus 로고
    • An experimental application of the Delphi method to the use of experts
    • Dalkey N, Helmer O. An experimental application of the Delphi method to the use of experts. Manag Sci 1963;9:458-467.
    • (1963) Manag Sci , vol.9 , pp. 458-467
    • Dalkey, N.1    Helmer, O.2
  • 9
    • 0002018661 scopus 로고    scopus 로고
    • A critical review of the Delphi technique
    • Beretta R. A critical review of the Delphi technique. Nurse Res 1996;3:79-89.
    • (1996) Nurse Res , vol.3 , pp. 79-89
    • Beretta, R.1
  • 10
    • 0033468322 scopus 로고    scopus 로고
    • Applying the Delphi technique in a study of GPs' information requirements
    • Green B, Jones M, Hughes D, Williams A. Applying the Delphi technique in a study of GPs' information requirements. Health Soc Care Community 1999;7:198-205.
    • (1999) Health Soc Care Community , vol.7 , pp. 198-205
    • Green, B.1    Jones, M.2    Hughes, D.3    Williams, A.4
  • 11
    • 84866023837 scopus 로고    scopus 로고
    • Consensus measurement in Delphi studies Review and implications for future quality assurance
    • von der Gracht HA. Consensus measurement in Delphi studies Review and implications for future quality assurance. Technol Forecast Soc Change 2012;79:125-1536.
    • (2012) Technol Forecast Soc Change , vol.79 , pp. 125-1536
    • Von Der Gracht, H.A.1
  • 12
    • 0034303001 scopus 로고    scopus 로고
    • Research guidelines for the Delphi survey technique
    • Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nurs 2000;32:1008-1015.
    • (2000) J Adv Nurs , vol.32 , pp. 1008-1015
    • Hasson, F.1    Keeney, S.2    McKenna, H.3
  • 13
    • 84962394091 scopus 로고    scopus 로고
    • Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
    • Kalman LV, Agúndez J, Appell ML, et al. Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting. Clin Pharmacol Ther 2016;99:172-185.
    • (2016) Clin Pharmacol Ther , vol.99 , pp. 172-185
    • Kalman, L.V.1    Agúndez, J.2    Appell, M.L.3
  • 14
    • 70349779297 scopus 로고    scopus 로고
    • The Delphi technique: Making sense of consensus
    • Hsu CC, Sandford BA. The Delphi technique: making sense of consensus. Practical Assess Res Eval 2007;12:1-8.
    • (2007) Practical Assess Res Eval , vol.12 , pp. 1-8
    • Hsu, C.C.1    Sandford, B.A.2
  • 15
    • 0001375579 scopus 로고    scopus 로고
    • The Delphi technique: An adaptive research tool
    • Sumsion T. The Delphi technique: an adaptive research tool. Br J Occupat Ther 1998;61:153-156.
    • (1998) Br J Occupat Ther , vol.61 , pp. 153-156
    • Sumsion, T.1
  • 16
    • 84960444228 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing
    • Gammal RS, Court MH, Haidar CE, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. Clin Pharmacol Ther 2016;99:363-369.
    • (2016) Clin Pharmacol Ther , vol.99 , pp. 363-369
    • Gammal, R.S.1    Court, M.H.2    Haidar, C.E.3
  • 17
    • 84962294272 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors
    • Hicks JK, Bishop JR, Sangkuhl K, et al.; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clin Pharmacol Ther 2015;98:127-134.
    • (2015) Clin Pharmacol Ther , vol.98 , pp. 127-134
    • Hicks, J.K.1    Bishop, J.R.2    Sangkuhl, K.3
  • 18
    • 84962207669 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing
    • Birdwell KA, Decker B, Barbarino JM, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing. Clin Pharmacol Ther 2015;98:19-24.
    • (2015) Clin Pharmacol Ther , vol.98 , pp. 19-24
    • Birdwell, K.A.1    Decker, B.2    Barbarino, J.M.3
  • 19
    • 84899417586 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update
    • Martin MA, Hoffman JM, Freimuth RR, et al.; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update. Clin Pharmacol Ther 2014;95:499-500.
    • (2014) Clin Pharmacol Ther , vol.95 , pp. 499-500
    • Martin, M.A.1    Hoffman, J.M.2    Freimuth, R.R.3
  • 20
    • 85011879912 scopus 로고    scopus 로고
    • National Center for Biotechnology Information. ClinVar. Clinical significance on ClinVar aggregate records Accessed 14 April 2016
    • National Center for Biotechnology Information. ClinVar. Clinical significance on ClinVar aggregate records. http://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/#clinsig-agg. Accessed 14 April 2016.
  • 21
    • 80052962391 scopus 로고    scopus 로고
    • Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing
    • Johnson JA, Gong L, Whirl-Carrillo M, et al.; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin Pharmacol Ther 2011;90:625-629.
    • (2011) Clin Pharmacol Ther , vol.90 , pp. 625-629
    • Johnson, J.A.1    Gong, L.2    Whirl-Carrillo, M.3
  • 22
    • 39449137238 scopus 로고    scopus 로고
    • Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin
    • Flockhart DA, O'Kane D, Williams MS, et al.; ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med 2008;10:139-150.
    • (2008) Genet Med , vol.10 , pp. 139-150
    • Flockhart, D.A.1    O'Kane, D.2    Williams, M.S.3
  • 23
    • 73849108033 scopus 로고    scopus 로고
    • Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
    • Tsuchiya KD, Shaffer LG, Aradhya S, et al. Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med 2009;11:866-873.
    • (2009) Genet Med , vol.11 , pp. 866-873
    • Tsuchiya, K.D.1    Shaffer, L.G.2    Aradhya, S.3
  • 24
    • 84963769662 scopus 로고    scopus 로고
    • Harnessing next-generation informatics for personalizing medicine: A report from AMIA's 2014 Health Policy Invitational Meeting
    • Wiley LK, Tarczy-Hornoch P, Denny JC, et al. Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting. J Am Med Inform Assoc 2016;23:413-419.
    • (2016) J Am Med Inform Assoc , vol.23 , pp. 413-419
    • Wiley, L.K.1    Tarczy-Hornoch, P.2    Denny, J.C.3
  • 25
    • 85011804247 scopus 로고    scopus 로고
    • HL7 V2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2
    • HL7 V2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 2; 2013.
    • (2013)
  • 26
    • 0037380904 scopus 로고    scopus 로고
    • LOINC, a universal standard for identifying laboratory observations: A 5-year update
    • McDonald CJ, Huff SM, Suico JG, et al. LOINC, a universal standard for identifying laboratory observations: a 5-year update. Clin Chem 2003;49:624-633.
    • (2003) Clin Chem , vol.49 , pp. 624-633
    • McDonald, C.J.1    Huff, S.M.2    Suico, J.G.3
  • 27
    • 0031897761 scopus 로고    scopus 로고
    • Development of the Logical Observation Identifier Names and Codes (LOINC) vocabulary
    • Huff SM, Rocha RA, McDonald CJ, et al. Development of the Logical Observation Identifier Names and Codes (LOINC) vocabulary. J Am Med Inform Assoc 1998;5:276-292.
    • (1998) J Am Med Inform Assoc , vol.5 , pp. 276-292
    • Huff, S.M.1    Rocha, R.A.2    McDonald, C.J.3
  • 29
    • 84893549013 scopus 로고    scopus 로고
    • Development and use of active clinical decision support for preemptive pharmacogenomics
    • Bell GC, Crews KR, Wilkinson MR, et al. Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc 2014;21(e1):e93-e99.
    • (2014) J Am Med Inform Assoc , vol.21 , Issue.E1 , pp. e93-e99
    • Bell, G.C.1    Crews, K.R.2    Wilkinson, M.R.3
  • 30
    • 84901827552 scopus 로고    scopus 로고
    • Integrating pharmacogenetic information and clinical decision support into the electronic health record
    • Goldspiel BR, Flegel WA, DiPatrizio G, et al. Integrating pharmacogenetic information and clinical decision support into the electronic health record. JAMIA. 2014;21:522-528.
    • (2014) JAMIA. , vol.21 , pp. 522-528
    • Goldspiel, B.R.1    Flegel, W.A.2    DiPatrizio, G.3
  • 31
    • 84891809093 scopus 로고    scopus 로고
    • ClinVar: Public archive of relationships among sequence variation and human phenotype
    • Database issue
    • Landrum MJ, Lee JM, Riley GR, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res 2014;42(Database issue):D980-D985.
    • (2014) Nucleic Acids Res , vol.42 , pp. D980-D985
    • Landrum, M.J.1    Lee, J.M.2    Riley, G.R.3
  • 32
    • 4544264774 scopus 로고    scopus 로고
    • The Delphi method as a research tool: An example, design considerations and applications
    • Okoli C, Pawlowski S. The Delphi method as a research tool: an example, design considerations and applications. Information and Management 2004;42: 15-29.
    • (2004) Information and Management , vol.42 , pp. 15-29
    • Okoli, C.1    Pawlowski, S.2
  • 33
    • 84857237867 scopus 로고    scopus 로고
    • Adoption of pharmacogenomic testing by US physicians: Results of a nationwide survey
    • Stanek EJ, Sanders CL, Taber KA, et al. Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin Pharmacol Ther 2012;91:450-458.
    • (2012) Clin Pharmacol Ther , vol.91 , pp. 450-458
    • Stanek, E.J.1    Sanders, C.L.2    Taber, K.A.3
  • 34
    • 84866173399 scopus 로고    scopus 로고
    • Primary care physicians' knowledge of and experience with pharmacogenetic testing
    • Haga SB, Burke W, Ginsburg GS, Mills R, Agans R. Primary care physicians' knowledge of and experience with pharmacogenetic testing. Clin Genet 2012;82:388-394.
    • (2012) Clin Genet , vol.82 , pp. 388-394
    • Haga, S.B.1    Burke, W.2    Ginsburg, G.S.3    Mills, R.4    Agans, R.5
  • 35
    • 84931835165 scopus 로고    scopus 로고
    • Physician attitudes toward adopting genome-guided prescribing through clinical decision support
    • Overby CL, Erwin AL, Abul-Husn NS, et al. Physician attitudes toward adopting genome-guided prescribing through clinical decision support. J Pers Med 2014;4:35-49.
    • (2014) J Pers Med , vol.4 , pp. 35-49
    • Overby, C.L.1    Erwin, A.L.2    Abul-Husn, N.S.3
  • 36
    • 84991952958 scopus 로고    scopus 로고
    • Attitudes of clinicians following large-scale pharmacogenomics implementation
    • e-pub ahead of print 11 August 2015
    • Peterson J F, Field JR, Shi Y, et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharmacogenomics J 2015; e-pub ahead of print 11 August 2015.
    • (2015) Pharmacogenomics J
    • Peterson, J.F.1    Field, J.R.2    Shi, Y.3
  • 37
    • 84867848963 scopus 로고    scopus 로고
    • A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record
    • Hicks JK, Crews KR, Hoffman JM, et al. A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. Clin Pharmacol Ther 2012;92:563-566.
    • (2012) Clin Pharmacol Ther , vol.92 , pp. 563-566
    • Hicks, J.K.1    Crews, K.R.2    Hoffman, J.M.3
  • 38
    • 84885101900 scopus 로고    scopus 로고
    • Electronic health record design and implementation for pharmacogenomics: A local perspective
    • Peterson J F, Bowton E, Field JR, et al. Electronic health record design and implementation for pharmacogenomics: a local perspective. Genet Med 2013;15:833-841.
    • (2013) Genet Med , vol.15 , pp. 833-841
    • Peterson, J.F.1    Bowton, E.2    Field, J.R.3
  • 39
    • 84896319867 scopus 로고    scopus 로고
    • PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics
    • Hoffman JM, Haidar CE, Wilkinson MR, et al. PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. Am J Med Genet C Semin Med Genet 2014;166C:45-55.
    • (2014) Am J Med Genet C Semin Med Genet , vol.166 C , pp. 45-55
    • Hoffman, J.M.1    Haidar, C.E.2    Wilkinson, M.R.3
  • 40
    • 84908220839 scopus 로고    scopus 로고
    • Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing
    • Caudle KE, Rettie AE, Whirl-Carrillo M, et al.; Clinical Pharmacogenetics Implementation Consortium. Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharmacol Ther 2014;96:542-548.
    • (2014) Clin Pharmacol Ther , vol.96 , pp. 542-548
    • Caudle, K.E.1    Rettie, A.E.2    Whirl-Carrillo, M.3


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