Pharmacogenetic biomarkers for predicting drug response

Expert Review of Molecular Diagnostics

Volumn 14, Issue 6, 2014, Pages 723-735

  Bank, Paul Christiaan ^a   Swen, Joachim Jesse ^a   Guchelaar, Henk Jan ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Drug efficacy; Drug safety; Implementation; Pharmacodynamics; Pharmacogenetics; Pharmacogenomics; Pharmacokinetics

Indexed keywords

ABACAVIR; ACENOCOUMAROL; ALLOPURINOL; BIOLOGICAL MARKER; CAPECITABINE; CARBAMAZEPINE; COUMARIN; FLUCLOXACILLIN; FLUOROPYRIMIDINE; IRINOTECAN; METHOTREXATE; PHENPROCOUMON; WARFARIN;

CLINICAL PRACTICE; DIARRHEA; DRUG ABSORPTION; DRUG DISTRIBUTION; DRUG EFFECT; DRUG EFFICACY; DRUG EXCRETION; DRUG INDUCED DISEASE; DRUG METABOLISM; DRUG RESPONSE; DRUG SAFETY; DRUG WITHDRAWAL; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE SYSTEM; HUMAN; LEUKOPENIA; PHARMACODYNAMICS; PHARMACOGENETICS; PRACTICE GUIDELINE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TOXIC HEPATITIS; UNSPECIFIED SIDE EFFECT; PROCEDURES; TREATMENT OUTCOME;

BIOLOGICAL MARKERS; GENETIC VARIATION; HUMANS; PHARMACOGENETICS; TREATMENT OUTCOME;

EID: 84903200362     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2014.923759     Document Type: Review

References (148)

1. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001;291(5507):1304-51 (Pubitemid 32173090)
2. Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001;285(5):540-4 (Pubitemid 32656320)
3. Homer JJ, Frewer JD, Swallow J, Semple P. An audit of post-operative analgesia in children following tonsillectomy. J Laryngol Otol 2002;116(5):367-70 (Pubitemid 34454523)
4. Sutters KA, Miaskowski C, Holdridge-Zeuner D, et al. A randomized clinical trial of the effectiveness of a scheduled oral analgesic dosing regimen for the management of postoperative pain in children following tonsillectomy. Pain 2004; 110(1-2):49-55 (Pubitemid 38953267)
5. Desmeules J, Gascon MP, Dayer P, Magistris M. Impact of environmental and genetic factors on codeine analgesia. Eur J Clin Pharmacol 1991;41(1):23-6
6. Eckhardt K, Li S, Ammon S, et al. Same incidence of adverse drug events after codeine administration irrespective of the genetically determined differences in morphine formation. Pain 1998;76(1-2): 27-33 (Pubitemid 28304939)
7. Poulsen L, Riishede L, Brosen K, et al. Codeine in post-operative pain. Study of the influence of sparteine phenotype and serum concentrations of morphine and morphine-6-glucuronide. Eur J Clin Pharmacol 1998;54(6):451-4 (Pubitemid 28418810)
8. Ciszkowski C, Madadi P, Phillips MS, et al. Codeine, ultrarapid- metabolism genotype, and postoperative death. N Engl J Med 2009;361(8):827-8
9. Kelly LE, Rieder M, van den Anker J, et al. More codeine fatalities after tonsillectomy in North American children. Pediatrics 2012; 129(5):e1343-7
10. Wilffert B, Swen J, Mulder H, et al. From evidence based medicine to mechanism based medicine. Reviewing the role of pharmacogenetics. Int J Clin Pharm 2011; 33(1):3-9
11. Spear BB, Heath-Chiozzi M, Huff J. Clinical application of pharmacogenetics. Trends Mol Med 2001;7(5):201-4
12. Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: A meta-Analysis of prospective studies. JAMA 1998;279(15): 1200-5 (Pubitemid 28193431)
13. Phillips KA, Veenstra DL, Oren E, et al. Potential role of pharmacogenomics in reducing adverse drug reactions: A systematic review. JAMA 2001;286(18):2270-9 (Pubitemid 33063150)
14. Grice GR, Seaton TL, Woodland AM, McLeod HL. Defining the opportunity for pharmacogenetic intervention in primary care. Pharmacogenomics 2006;7(1):61-5
15. Wilson PW, D'Agostino RB, Levy D, et al. Prediction of coronary heart disease using risk factor categories. Circulation 1998; 97(18):1837-47 (Pubitemid 28213628)
16. D'Agostino RB Sr, Vasan RS, Pencina MJ, et al. General cardiovascular risk profile for use in primary care: The Framingham Heart Study. Circulation 2008;117(6):743-53 (Pubitemid 351640675)
17. Law MR, Morris JK, Wald NJ. Use of blood pressure lowering drugs in the prevention of cardiovascular disease: Meta-Analysis of 147 randomised trials in the context of expectations from prospective epidemiological studies. BMJ 2009;338: B1665
18. Van Cutsem E, Nordlinger B, Cervantes A. Advanced colorectal cancer: ESMO Clinical Practice Guidelines for treatment. Ann Oncol 2010;21(Suppl 5):v93-7
19. Dahl ML, Johansson I, Bertilsson L, et al. Ultrarapid hydroxylation of debrisoquine in a Swedish population. Analysis of the molecular genetic basis. J Pharmacol Exp Ther 1995;274(1):516-20
20. Heggie GD, Sommadossi JP, Cross DS, et al. Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile. Cancer Res 1987;47(8): 2203-6 (Pubitemid 17074634)
21. Van Cutsem E, Twelves C, Cassidy J, et al. Oral capecitabine compared with intravenous fluorouracil plus leucovorin in patients with metastatic colorectal cancer: Results of a large phase III study. J Clin Oncol 2001;19(21):4097-106 (Pubitemid 33049527)
22. Etienne MC, Lagrange JL, Dassonville O, et al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol 1994;12(11):2248-53 (Pubitemid 24346691)
23. Lu Z, Zhang R, Diasio RB. Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: Population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 1993;53(22): 5433-8 (Pubitemid 23342163)
24. Diasio RB, Beavers TL, Carpenter JT. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J Clin Invest 1988;81(1):47-51 (Pubitemid 18092231)
25. van Kuilenburg AB, Muller EW, Haasjes J, et al. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: Frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clin Cancer Res 2001;7(5): 1149-53 (Pubitemid 32708664)
26. Wei X, McLeod HL, McMurrough J, et al. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 1996;98(3):610-15 (Pubitemid 26349163)
27. McLeod HL, Collie-Duguid ES, Vreken P, et al. Nomenclature for human DPYD alleles. Pharmacogenetics 1998;8(6):455-9 (Pubitemid 29043377)
28. Deenen MJ, Tol J, Burylo AM, et al. Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin Cancer Res 2011;17(10):3455-68
29. Seck K, Riemer S, Kates R, et al. Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. Clin Cancer Res 2005;11(16):5886-92 (Pubitemid 41170317)
30. Loganayagam A, Arenas-Hernandez M, Fairbanks L, et al. The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. Cancer Chemother Pharmacol 2010;65(2):403-6
31. van Kuilenburg AB, Meijer J, Mul AN, et al. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet 2010;128(5):529-38
32. Kobilka BK, Dixon RA, Frielle T, et al. cDNA for the human beta 2-Adrenergic receptor: A protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci USA 1987;84(1):46-50 (Pubitemid 17013575)
33. Ortega VE, Meyers DA. Pharmacogenetics: Implications of race and ethnicity on defining genetic profiles for personalized medicine. J Allergy Clin Immunol 2014; 133(1):16-26
34. Chung LP, Waterer G, Thompson PJ. Pharmacogenetics of beta2 adrenergic receptor gene polymorphisms, long-Acting beta-Agonists and asthma. Clin Exp Allergy 2011;41(3):312-26
35. Reihsaus E, Innis M, MacIntyre N, Liggett SB. Mutations in the gene encoding for the beta 2-Adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol 1993;8(3):334-9
36. Dishy V, Sofowora GG, Xie HG, et al. The effect of common polymorphisms of the beta2-Adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med 2001;345(14):1030-5
37. Rosendaal FR. The Scylla and Charybdis of oral anticoagulant treatment. N Engl J Med 1996;335(8):587-9 (Pubitemid 26272315)
38. James AH, Britt RP, Raskino CL, Thompson SG. Factors affecting the maintenance dose of warfarin. J Clin Pathol 1992;45(8):704-6
39. Rettie AE, Korzekwa KR, Kunze KL, et al. Hydroxylation of warfarin by human cDNA-expressed cytochrome P-450: A role for P-4502C9 in the etiology of (S)-warfarin-drug interactions. Chem Res Toxicol 1992;5(1):54-9
40. Kaminsky LS, Zhang ZY. Human P450 metabolism of warfarin. Pharmacol Ther 1997;73(1):67-74 (Pubitemid 26425815)
41. Takahashi H, Echizen H. Pharmacogenetics of warfarin elimination and its clinical implications. Clin Pharmacokinet 2001; 40(8):587-603 (Pubitemid 32758581)
42. The human cytochrome P450 (CYP) allele nomenclature database. Available from: Http://www.cypalleles.ki.se/
43. Crespi CL, Miller VP. The R144C change in the CYP2C9 2 allele alters interaction of the cytochrome P450 with NADPH: Cytochrome P450 oxidoreductase. Pharmacogenetics 1997;7(3):203-10 (Pubitemid 27290634)
44. Haining RL, Hunter AP, Veronese ME, et al. Allelic variants of human cytochrome P450 2C9: Baculovirus-mediated expression, purification, structural characterization, substrate stereoselectivity, and prochiral selectivity of the wild-Type and I359L mutant forms. Arch Biochem Biophys 1996; 333(2):447-58 (Pubitemid 26304913)
45. Steward DJ, Haining RL, Henne KR, et al. Genetic association between sensitivity to warfarin and expression of CYP2C9 3. Pharmacogenetics 1997;7(5):361-7
46. Aithal GP, Day CP, Kesteven PJ, Daly AK. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 1999;353(9154): 717-19 (Pubitemid 29103806)
47. Taube J, Halsall D, Baglin T. Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-Anticoagulation in patients on long-Term treatment. Blood 2000;96(5): 1816-19 (Pubitemid 30661066)
48. Higashi MK, Veenstra DL, Kondo LM, et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 2002;287(13):1690-8 (Pubitemid 34289221)
49. Wadelius M, Sorlin K, Wallerman O, et al. Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors. Pharmacogenomics J 2004;4(1):40-8 (Pubitemid 38256604)
50. Gage BF, Eby C, Milligan PE, et al. Use of pharmacogenetics and clinical factors to predict the maintenance dose of warfarin. Thromb Haemost 2004;91(1):87-94 (Pubitemid 38111225)
51. Li T, Chang CY, Jin DY, et al. Identification of the gene for vitamin K epoxide reductase. Nature 2004;427(6974): 541-4 (Pubitemid 38209111)
52. Rost S, Fregin A, Ivaskevicius V, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004;427(6974): 537-41 (Pubitemid 38209110)
53. D'Andrea G, D'Ambrosio RL, Di PP, et al. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-Anticoagulant effect of warfarin. Blood 2005;105(2):645-9 (Pubitemid 40070748)
54. Rieder MJ, Reiner AP, Gage BF, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005;352(22):2285-93 (Pubitemid 40740552)
55. Sconce EA, Khan TI, Wynne HA, et al. The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: Proposal for a new dosing regimen. Blood 2005;106(7):2329-33 (Pubitemid 41510803)
56. Smith DA, Schmid EF. Drug withdrawals and the lessons within. Curr Opin Drug Discov Devel 2006;9(1):38-46 (Pubitemid 43099074)
57. Wilke RA, Lin DW, Roden DM, et al. Identifying genetic risk factors for serious adverse drug reactions: Current progress and challenges. Nat Rev Drug Discov 2007; 6(11):904-16 (Pubitemid 350042398)
58. Becquemont L. Pharmacogenomics of adverse drug reactions: Practical applications and perspectives. Pharmacogenomics 2009; 10(6):961-9
59. Daly AK, Donaldson PT, Bhatnagar P, et al. HLA-B 5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet 2009;41(7): 816-19
60. McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A 3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011;364(12):1134-43
61. Mallal S, Phillips E, Carosi G, et al. HLA-B 5701 screening for hypersensitivity to abacavir. N Engl J Med 2008;358(6): 568-79 (Pubitemid 351214284)
62. Kaniwa N, Saito Y, Aihara M, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics 2008;9(11):1617-22
63. van Schie RM, Wessels JA, le Cessie S, et al. Loading and maintenance dose algorithms for phenprocoumon and acenocoumarol using patient characteristics and pharmacogenetic data. Eur Heart J 2011;32(15):1909-17
64. Jones G, Halbert J, Crotty M, et al. The effect of treatment on radiological progression in rheumatoid arthritis: A systematic review of randomized placebo-controlled trials. Rheumatology (Oxford) 2003;42(1):6-13 (Pubitemid 36131560)
65. Pincus T, Ferraccioli G, Sokka T, et al. Evidence from clinical trials and long-Term observational studies that disease-modifying anti-rheumatic drugs slow radiographic progression in rheumatoid arthritis: Updating a 1983 review. Rheumatology (Oxford) 2002;41(12):1346-56
66. Aletaha D, Smolen JS. The rheumatoid arthritis patient in the clinic: Comparing more than 1,300 consecutive DMARD courses. Rheumatology (Oxford) 2002; 41(12):1367-74 (Pubitemid 36004312)
67. Maetzel A, Wong A, Strand V, et al. Meta-Analysis of treatment termination rates among rheumatoid arthritis patients receiving disease-modifying anti-rheumatic drugs. Rheumatology (Oxford) 2000;39(9): 975-81
68. Wessels JA, van der Kooij SM, le Cessie S, et al. A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis. Arthritis Rheum 2007;56(6): 1765-75 (Pubitemid 47110376)
69. Morel A, Boisdron-Celle M, Fey L, et al. Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer Ther 2006;5(11):2895-904 (Pubitemid 44849017)
70. van Kuilenburg AB, Meinsma R, Zoetekouw L, van Gennip AH. High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-Associated toxicity. Pharmacogenetics 2002;12(7):555-8 (Pubitemid 35177085)
71. Amstutz U, Farese S, Aebi S, Largiader CR. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: A haplotype assessment. Pharmacogenomics 2009;10(6):931-44
72. Gross E, Ullrich T, Seck K, et al. Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Hum Mutat 2003;22(6):498
73. Deenen MJ, Cats A, Sechterberger J, et al. Safety, pharmacokinetics (PK), and cost-effectiveness of upfront genotyping of PDYD in fluoropyrimidine therapy. J Clin Oncol 2011;29(suppl):Abstract 3606
74. Schwab M, Zanger UM, Marx C, et al. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: A prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol 2008;26(13):2131-8
75. Gupta E, Lestingi TM, Mick R, et al. Metabolic fate of irinotecan in humans: Correlation of glucuronidation with diarrhea. Cancer Res 1994;54(14):3723-5 (Pubitemid 24241187)
76. Kawato Y, Aonuma M, Hirota Y, et al. Intracellular roles of SN-38, a metabolite of the camptothecin derivative CPT-11, in the antitumor effect of CPT-11. Cancer Res 1991;51(16):4187-91
77. Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333(18):1171-5
78. Iyer L, King CD, Whitington PF, et al. Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J Clin Invest 1998;101(4): 847-54 (Pubitemid 28096082)
79. Iyer L, Hall D, Das S, et al. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther 1999; 65(5):576-82 (Pubitemid 29237332)
80. Innocenti F, Undevia SD, Iyer L, et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 2004;22(8):1382-8 (Pubitemid 41103619)
81. Palomaki GE, Bradley LA, Douglas MP, et al. Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecañ An evidence-based review. Genet Med 2009;11(1):21-34
82. Ramchandani RP, Wang Y, Booth BP, et al. The role of SN-38 exposure, UGT1A1 28 polymorphism, and baseline bilirubin level in predicting severe irinotecan toxicity. J Clin Pharmacol 2007;47(1):78-86 (Pubitemid 44974001)
83. Lucena MI, Molokhia M, Shen Y, et al. Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. Gastroenterology 2011;141(1): 338-47
84. Goetz MP, Rae JM, Suman VJ, et al. Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol 2005;23(36):9312-18
85. Reitsma PH, van der Heijden JF, Groot AP, et al. A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. PLoS Med 2005;2(10):e312
86. Liu CY, Chen PM, Chiou TJ, et al. UGT1A1 28 polymorphism predicts irinotecan-induced severe toxicities without affecting treatment outcome and survival in patients with metastatic colorectal carcinoma. Cancer 2008;112(9):1932-40
87. Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther 2011;89(3):464-7
88. van Schie RM, el Khedr N, Verhoef TI, et al. Validation of the acenocoumarol EU-PACT algorithms: Similar performance in the Rotterdam Study cohort as in the original study. Pharmacogenomics 2012; 13(11):1239-45
89. Khoury MJ, Gwinn M, Dotson WD, Bowen MS. Is there a need for PGxceptionalism? Genet Med 2011;13(10): 866-7
90. Altman RB. Pharmacogenomics: "noninferiority" is sufficient for initial implementation. Clin Pharmacol Ther 2011;89(3):348-50
91. Pirmohamed M, Hughes DA. Pharmacogenetic tests: The need for a level playing field. Nat Rev Drug Discov 2013; 12(1):3-4
92. Guyatt G, Cairns J, Churchill D. Evidence-based medicine. A new approach to teaching the practice of medicine. JAMA 1992;268(17):2420-5
93. Strauss SE, Glasziou P, Richardson WS, Haynes RB. Evidence based medicine. 4th. Edition. Churchill Livingstone Elsevier; Toronto, Canada: 2011
94. The periodic health examination: 2. 1985 update. Canadian Task Force on the Periodic Examination. CMAJ 1986;134(7): 724-7
95. French J, Gronseth G. Lost in a jungle of evidence: We need a compass. Neurology 2008;71(20):1634-8
96. Lee SK, Singhal N, Aziz K, Cronin CM. The EPIQ evidence reviews-practical tools for an integrated approach to knowledge translation. Paediatr Child Health 2011; 16(10):629-30
97. Dahl ML, Bertilsson L. Genetically variable metabolism of antidepressants and neuroleptic drugs in man. Pharmacogenetics 1993;3(2):61-70
98. Lewis DF, Lake BG, Dickins M. Substrates of human cytochromes P450 from families CYP1 and CYP2: Analysis of enzyme selectivity and metabolism. Drug Metabol Drug Interact 2004;20(3):111-42 (Pubitemid 39388608)
99. Hicks JK, Swen JJ, Thorn CF, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants. Clin Pharmacol Ther 2013; 93(5):402-8
100. Haddow JE, Palomaki GE. ACCE: A model approach for evaluating data on emerging genetic tests. In: Human genome epidemiology. Khoury MJ, Little J, Burke W, editors. 1st. Edition. Oxford University Press; NY, USA: 2013. p. 217-33
101. Khoury MJ. Dealing with the evidence dilemma in genomics and personalized medicine. Clin Pharmacol Ther 2010;87(6): 635-8
102. Schackman BR, Scott CA, Walensky RP, et al. The cost-effectiveness of HLA-B 5701 genetic screening to guide initial antiretroviral therapy for HIV. AIDS 2008;22(15):2025-33
103. Pirmohamed M, Burnside G, Eriksson N, et al. A randomized trial of genotype-guided dosing of warfarin. N Engl J Med 2013; 369(24):2294-303
104. Anderson JL, Horne BD, Stevens SM, et al. A randomized and clinical effectiveness trial comparing two pharmacogenetic algorithms and standard care for individualizing warfarin dosing (CoumaGen-II). Circulation 2012;125(16):1997-2005
105. Caraco Y, Blotnick S, Muszkat M. CYP2C9 genotype-guided warfarin prescribing enhances the efficacy and safety of anticoagulation: A prospective randomized controlled study. Clin Pharmacol Ther 2008;83(3):460-70 (Pubitemid 351272635)
106. Anderson JL, Horne BD, Stevens SM, et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation 2007;116(22):2563-70 (Pubitemid 350179221)
107. Gong IY, Tirona RG, Schwarz UI, et al. Prospective evaluation of a pharmacogenetics-guided warfarin loading and maintenance dose regimen for initiation of therapy. Blood 2011;118(11):3163-71
108. Kimmel SE, French B, Kasner SE, et al. A pharmacogenetic versus a clinical algorithm for warfarin dosing. N Engl J Med 2013;369(24):2283-93
109. Genotype-Guided Dosing of Vitamin K Antagonists. N Engl J Med 2014;370(18): 1761-6
110. Johnson JA, Klein TE, Relling MV. Clinical implementation of pharmacogenetics: More than one gene at a time. Clin Pharmacol Ther 2013;93(5):384-5
111. Swen JJ, Wilting I, de Goede AL, et al. Pharmacogenetics: From bench to byte. Clin Pharmacol Ther 2008;83(5):781-7 (Pubitemid 351556025)
112. Swen JJ, Nijenhuis M, de BA, et al. Pharmacogenetics: From bench to byte-An update of guidelines. Clin Pharmacol Ther 2011;89(5):662-73
113. Whirl-Carrillo M, McDonagh EM, Hebert JM, et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther 2012;92(4):414-17
114. Harper AR, Topol EJ. Pharmacogenomics in clinical practice and drug development. Nat Biotechnol 2012;30(11):1117-24
115. Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet 2010;375(9725):1525-35
116. Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014; 311(10):1035-45
117. Simon R, Maitournam A. Evaluating the efficiency of targeted designs for randomized clinical trials. Clin Cancer Res 2004;10(20): 6759-63 (Pubitemid 39383023)
118. Maitournam A, Simon R. On the efficiency of targeted clinical trials. Stat Med 2005; 24(3):329-39 (Pubitemid 40227650)
119. Simon R, Wang SJ. Use of genomic signatures in therapeutics development in oncology and other diseases. Pharmacogenomics J 2006;6(3):166-73 (Pubitemid 43811567)
120. Bauer P. Multiple testing in clinical trials. Stat Med 1991;10(6):871-89
121. Mandrekar SJ, Grothey A, Goetz MP, Sargent DJ. Clinical trial designs for prospective validation of biomarkers. Am J Pharmacogenomics 2005;5(5):317-25 (Pubitemid 41425609)
122. Sargent DJ, Conley BA, Allegra C, Collette L. Clinical trial designs for predictive marker validation in cancer treatment trials. J Clin Oncol 2005;23(9): 2020-7 (Pubitemid 46211382)
123. Liu A, Liu C, Li Q, et al. A threshold sample-enrichment approach in a clinical trial with heterogeneous subpopulations. Clin Trials 2010;7(5):537-45
124. Wang SJ, O'Neill RT, Hung HM. Approaches to evaluation of treatment effect in randomized clinical trials with genomic subset. Pharm Stat 2007;6(3):227-44 (Pubitemid 47455262)
125. Qin R, Kohli M. Pharmacogenetics-And pharmacogenomics-based rational clinical trial designs in oncology. Per Med 2013; 10(8):859-69
126. Mandrekar SJ, Sargent DJ. Clinical trial designs for predictive biomarker validation: Theoretical considerations and practical challenges. J Clin Oncol 2009;27(24): 4027-34
127. Mandrekar SJ, Sargent DJ. Clinical trial designs for predictive biomarker validation: One size does not fit all. J Biopharm Stat 2009;19(3):530-42
128. Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003;21(23):4342-9 (Pubitemid 46621810)
129. Kelley RK, Van Bebber SL, Phillips KA, Venook AP. Personalized medicine and oncology practice guidelines: A case study of contemporary biomarkers in colorectal cancer. J Natl Compr Canc Netw 2011; 9(1):13-25
130. Duffy MJ, O'Donovan N, Crown J. Use of molecular markers for predicting therapy response in cancer patients. Cancer Treat Rev 2011;37(2):151-9
131. Amado RG, Wolf M, Peeters M, et al. Wild-Type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol 2008;26(10):1626-34
132. Romond EH, Perez EA, Bryant J, et al. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N Engl J Med 2005;353(16):1673-84 (Pubitemid 41464706)
133. Shepherd FA, Rodrigues PJ, Ciuleanu T, et al. Erlotinib in previously treated non-small-cell lung cancer. N Engl J Med 2005;353(2):123-32 (Pubitemid 41058344)
134. Tsao MS, Sakurada A, Cutz JC, et al. Erlotinib in lung cancer-molecular and clinical predictors of outcome. N Engl J Med 2005;353(2):133-44 (Pubitemid 41058345)
135. Rosell R, Moran T, Queralt C, et al. Screening for epidermal growth factor receptor mutations in lung cancer. N Engl J Med 2009;361(10):958-67
136. Kinch MS, Haynesworth A, Kinch SL, Hoyer D. An overview of FDA-Approved new molecular entities: 1827-2013. Drug Discov Today 2014. [Epub ahead of print]
137. 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(3): 450-8
138. de Denus S, Letarte N, Hurlimann T, et al. An evaluation of pharmacists' expectations towards pharmacogenomics. Pharmacogenomics 2013;14(2):165-75
139. Rogausch A, Prause D, Schallenberg A, et al. Patients' and physicians' perspectives on pharmacogenetic testing. Pharmacogenomics 2006;7(1):49-59
140. Haga SB, O'Daniel JM, Tindall GM, et al. Survey of US public attitudes toward pharmacogenetic testing. Pharmacogenomics J 2012;12(3):197-204
141. Opdam FL, Swen JJ, Wessels JA, Gelderblom H. SNPs and haplotypes in DPYD and outcome of capecitabine-Letter. Clin Cancer Res 2011;17(17):5833-4
142. Di Francia R, Berretta M, Catapano O, et al. Molecular diagnostics for pharmacogenomic testing of fluoropyrimidine based-Therapy: Costs, methods and applications. Clin Chem Lab Med 2011;49(7):1105-11
143. Shuldiner AR, Relling MV, Peterson JF, et al. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Overcoming challenges of real-world implementation. Clin Pharmacol Ther 2013;94(2):207-10
144. Crews KR, Cross SJ, McCormick JN, et al. Development and implementation of a pharmacist-managed clinical pharmacogenetics service. Am J Health Syst Pharm 2011;68(2):143-50
145. 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(1):45-55
146. O'Donnell PH, Bush A, Spitz J, et al. The 1200 patients project: Creating a new medical model system for clinical implementation of pharmacogenomics. Clin Pharmacol Ther 2012;92(4):446-9
147. O'Donnell PH, Danahey K, Jacobs M, et al Adoption of a clinical pharmacogenomics implementation program during outpatient care-initial results of the University of Chicago "1,200 Patients Project". Am J Med Genet C Semin Med Genet 2014;166C(1):68-75
148. Van Driest SL, Shi Y, Bowton EA, et al. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing. Clin Pharmacol Ther 2014;95(4):423-31.