A Rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding

Genetics in Medicine

Volumn 10, Issue 2, 2008, Pages 89-98

  McClain, Monica R ^a,c   Palomaki, Glenn E ^a   Piper, Margaret ^b   Haddow, James E ^a  

^a BROWN UNIVERSITY   (United States)

^b BlueCross BlueShield Association   (United States)

^c WOMEN AND INFANTS HOSPITAL   (United States)

Author keywords

CYP2C9; Evidence review; Severe bleeding; VKORC1; Warfarin

Indexed keywords

CYTOCHROME P450 2C9; UNCLASSIFIED DRUG; VITAMIN K GROUP; VKORC1; WARFARIN;

ALLELE; ARTICLE; BLEEDING; DISEASE SEVERITY; DOSE RESPONSE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE COST; HEALTH CARE UTILIZATION; HUMAN; MEDICAL DOCUMENTATION; MEDICAL ETHICS; MEDICAL LITERATURE; MEDICOLEGAL ASPECT; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SOCIAL ASPECT; THROMBOSIS; TREATMENT OUTCOME; VALIDATION STUDY;

ALLELES; ANTICOAGULANTS; ARYL HYDROCARBON HYDROXYLASES; DOSE-RESPONSE RELATIONSHIP, DRUG; GENOTYPE; HEMORRHAGE; HUMANS; MIXED FUNCTION OXYGENASES; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; WARFARIN;

EID: 39449109003     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31815bf924     Document Type: Article

References (64)

1. Haddow JE, Palomaki GE. ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury MJ, Little J, Burke W, editors. Human genome epidemiology: a scientific foundation for using genetic information to improve health and prevent disease. Oxford: Oxford University Press, 2003.
2. Johnston M, Harrison L, Moffat K, Willan A, et al. Reliability of the international normalized ratio for monitoring the induction phase of warfarin: comparison with the prothrombin time ratio. J Lab Clin Med 1996;128:214-217.
3. Moore TJ, Cohen MR, Furberg CD. Serious adverse drug events reported to the Food and Drug Administration, 1998-2005. Arch Intern Med 2007;167:1752-1759.
4. Gudgeon JM, McClain MR, Palomaki GE, Williams MS. Rapid ACCE: experience with a rapid and structured approach for evaluating gene-based testing. Genet Med 2007;9:473-478.
5. Flockhart DA, O'Kane D, Williams MS, Watson MS, et al. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med 2008;10:139-150.
6. Sanderson S, Emery J, Higgins J. CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis. Genet Med 2005;7:97-104.
7. Linder MW, Looney S, Adams JE III, Johnson N, et al. Warfarin dose adjustments based on CYP2C9 genetic polymorphisms. J Thromb Thrombolysis 2002;14:227-232.
8. Takahashi H, Wilkinson GR, Nutescu EA, Morita T, et al. Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans. Pharmacogenet Genomics 2006;16:101-110.
9. Rieder MJ, Reiner AP, Gage BF, Nickerson DA, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005;352:2285-2293.
10. Aquilante C L, Langaee TY, Lopez LM, Yarandi NH, et al. Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements. Clin Pharmacol Ther 2006;79:291-302.
11. D'Andrea G, D'Ambrosio RL, Di Perna P, Chetta M, et al. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood 2005;105:645-649.
12. Sconce EA, Khan TI, Wynne HA, Avery P, 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;106:2329-2333.
13. Vecsler M, Loebstein R, Almog S, Kurnik D, et al. Combined genetic profiles of components and regulators of the vitamin K-dependent gamma-carboxylation system affect individual sensitivity to warfarin. Thromb Haemost 2006;95:205-211.
14. Geisen C, Watzka M, Sittinger K, Steffens M, et al. VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost 2005;94:773-779.
15. Lee SC, Ng SS, Oldenburg J, Chong PY, et al. Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population. Clin Pharmacol Ther 2006;79:197-205.
16. Li T, Lange L, Li X, Susswein L, et al. Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation. J Med Genet 2006;43:740-744.
17. Mushiroda T, Ohnishi Y, Saito S, Takahashi A, et al. Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients. J Hum Genet 2006;51:249-253.
18. Veenstra DL, You JH, Rieder MJ, Farin FM, et al. Association of vitamin K epoxide reductase complex 1 (VKORC1) variants with warfarin dose in a Hong Kong Chinese patient population. Pharmacogenet Genomics 2005;15:687-691.
19. Aquilante CL, Lobmeyer MT, Langaee TY, Johnson JA. Comparison of cytochrome P450 2C9 genotyping methods and implications for the clinical laboratory. Pharmacotherapy 2004;24:720-726.
20. Burian M, Grosch S, Tegeder I, Geisslinger G. Validation of a new fluorogenic real-time PCR assay for detection of CYP2C9 allelic variants and CYP2C9 allelic distribution in a German population. Br J Clin Pharmacol 2002;54:518-521.
21. Eriksson S, Berg LM, Wadelius M, Alderborn A. Cytochrome p450 genotyping by multiplexed real-time DNA sequencing with pyrosequencing technology. Assay Drug Dev Technol 2002;1(1, Pt 1):49-59.
22. Hillman MA, Wilke RA, Caldwell MD, Berg RL, et al. Relative impact of covariates in prescribing warfarin according to CYP2C9 genotype. Pharmacogenetics 2004;14:539-547.
23. Pickering JW, McMillin GA, Gedge F, Hill HR, et al. Flow cytometric assay for genotyping cytochrome p450 2C9 and 2C19: comparison with a microelectronic DNA array. Am J Pharmacogenomics 2004;4:199-207.
24. WenSY, Wang H, Sun OJ, Wang SQ. Rapid detection of the known SNPs of CYP2C9 using oligonucleotide microarray. World J Gastroenterol 2003;9:1342-1346.
25. Zainuddin Z, Teh LK, Suhaimi AW, Salleh MZ, et al. A simple method for the detection of CYP2C9 polymorphisms: nested allele-specific multiplex polymerase chain reaction. Clin Chim Acta 2003;336:97-102.
26. Palomaki GE, Bradley LA, Richards CS, Haddow JE. Analytic validity of cystic fibrosis testing: a preliminary estimate. Genet Med 2003;5:15-20.
27. Palomaki GE, Haddow JE, Bradley LA, Richards CS, et al. Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing. Genet Med 2003;5:440-443.
28. Stuhrmann M, Strassburg C, Schmidtke J. Genotype-based screening for hereditary haemochromatosis. I. Technical performance, costs and clinical relevance of a German pilot study. Eur J Hum Genet 2005;13:69-78.
29. Hruska MW, Frye RF, Langaee TY. Pyrosequencing method for genotyping cytochrome P450 CYP2C8 and CYP2C9 enzymes. Clin Chem 2004;50:2392-2395.
30. Ogg MS, Brennan P, Meade T, Humphries SE. CYP2C9*3 allelic variant and bleeding complications. Lancet 1999;354:1124.
31. Margaglione M, Colaizzo D, D'Andrea G, Brancaccio V, et al. Genetic modulation of oral anticoagulation with warfarin. Thromb Haemost 2000;84:775-778.
32. Higashi MK, Veenstra DL, Kondo LM, Wittkowsky AK, et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 2002;287:1690-1698.
33. Wadelius M, Sorlin K, Wallerman O, Karlsson J, et al. Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors. Pharmacogenomics J 2004;4:40-48.
34. Lindh JD, Lundgren S, Holm L, Alfredsson L, et al. Several-fold increase in risk of overanticoagulation by CYP2C9 mutations. Clin Pharmacol Ther 2005;78:540-550.
35. Peyvandi F, Spreafico M, Siboni SM, Moia M, et al. CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy. Clin Pharmacol Ther 2004;75:198-203.
36. Wilke RA, Berg RL, Vidaillet HJ, Caldwell MD, et al. Impact of age, CYP2C9 genotype and concomitant medication on the rate of rise for prothrombin time during the first 30 days of warfarin therapy. Clin Med Res 2005;3:207-213.
37. Enyart JJ, Jones RJ. Low-dose warfarin for prevention of symptomatic thromboembolism after orthopedic surgery. Ann Pharmacother 2005;39:1002-1007.
38. Fitzgerald RH Jr, Spiro TE, Trowbridge AA, Gardiner GA Jr, et al. Prevention of venous thromboembolic disease following primary total knee arthroplasty. A randomized, multicenter, open-label, parallel-group comparison of enoxaparin and warfarin. J Bone Joint Surg Am 2001;83:900-906.
39. Francis CW, Berkowitz SD, Comp PC, Lieberman JR, et al. Comparison of ximelagatran with warfarin for the prevention of venous thromboembolism after total knee replacement. N Engl J Med 2003;349:1703-1712.
40. Freedman KB, Brookenthal KR, Fitzgerald RH Jr, Williams S, et al. A meta-analysis of thromboembolic prophylaxis following elective total hip arthroplasty. J Bone Joint Surg Am 2000;82:929-938.
41. Hull RD, Pineo GF, Francis C, Bergqvist D, et al. Low-molecular-weight heparin prophylaxis using dalteparin in close proximity to surgery vs warfarin in hip arthroplasty patients: a double-blind, randomized comparison. The North American Fragmin Trial Investigators. Arch Intern Med 2000;160:2199-2207.
42. Levine MN, Raskob G, Beyth RJ, Kearon C, et al. Hemorrhagic complications of anticoagulant treatment: the Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy. Chest 2004;126(3 suppl):287S-310S.
43. Prandoni P, Bruchi O, Sabbion P, Tanduo C, et al. Prolonged thromboprophylaxis with oral anticoagulants after total hip arthroplasty: a prospective controlled randomized study. Arch Intern Med 2002;162:1966-1971.
44. Sachs RA, Smith JH, Kuney M, Paxton L. Does anticoagulation do more harm than good? A comparison of patients treated without prophylaxis and patients treated with low-dose warfarin after total knee arthroplasty. J Arthroplasty 2003;18:389-395.
45. Stern SH, Wixson RL, O'Connor D. Evaluation of the safety and efficacy of enoxaparin and warfarin for prevention of deep vein thrombosis after total knee arthroplasty. J Arthroplasty 2000;15:153-158.
46. Vives MJ, Hozack WJ, Sharkey PF, Moriarty L, et al. Fixed minidose versus-adjusted low-dose warfarin after total joint arthroplasty: a randomized prospective study. J Arthroplasty 2001;16:1030-1037.
47. Joffe HV, Xu R, Johnson FB, Longtine J, et al. Warfarin dosing and cytochrome P450 2C9 polymorphisms. Thromb Haemost 2004;91:1123-1128.
48. Loebstein R, Yonath H, Peleg D, Almog S, et al. Interindividual variability in sensitivity to warfarin - nature or nurture? Clin Pharmacol Ther 2001;70:159-164.
49. Scordo MG, Pengo V, Spina E, Dahl ML, et al. Influence of CYP2C9 and CYP2C19 genetic polymorphisms on warfarin maintenance dose and metabolic clearance. Clin Pharmacol Ther 2002;72:702-710.
50. Tabrizi AR, Zehnbauer BA, Borecki IB, McGrath SD, et al. The frequency and effects of cytochrome P450 (CYP) 2C9 polymorphisms in patients receiving warfarin. J Am Coll Surg 2002;194:267-273.
51. Taube J, Halsall D, Baglin T. Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on longterm treatment. Blood 2000;96:1816-1819.
52. Topic E, Stefanovic M, Samardzija M. Association between the CYP2C9 polymorphism and the drug metabolism phenotype. Clin Chem Lab Med 2004;42:72-78.
53. Wadelius M, Chen LY, Downes K, Ghori J, et al. Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Pharmacogenomics J 2005;5:262-270.
54. Millican E, Jacobsen-Lenzini PA, Milligan PE, Grosso L, et al. Genetic-based dosing in orthopaedic patients beginning warfarin therapy. Blood 2007;110:1511-1515.
55. Zhu Y, Shennan M, Reynolds KK, Johnson NA, et al. Estimation of warfarin maintenance dose based on VKORC1 ( 1639G A) and CYP2C9 genotypes. Clin Chem 2007;53:1199-1205.
56. Hirsh J, Guyatt GH, Albers GW, Schunemann HJ. The seventh ACCP conference on antithrombotic and thrombolytic therapy: evidence-based guidelines. Chest 2004;126:172S-173S.
57. Hillman MA, Wilke RA, Yale SH, Vidaillet HJ, et al. A prospective, randomized pilot trial of model-based warfarin dose initiation using CYP2C9 genotype and clinical data. Clin Med Res 2005;3:137-145.
58. Higashi MK, Veenstra DL. Managed care in the genomics era: assessing the cost effectiveness of genetic tests. Am J Manag Care 2003;9:493-500.
59. You JH, Chan FW, Wong RS, Cheng G. The potential clinical and economic outcomes of pharmacogenetics-oriented management of warfarin therapy - a decision analysis. Thromb Haemost 2004;92:590-597.
60. McWilliam A, Lutter R, Nardinelli C. Health care savings from personalizing medicine using genetic testing: the case of warfarin. Working paper 06-23. Washington, DC: AEI-Brookings Joint Center for Regulatory Studies, 2006.
61. Schubert L. Ethical implications of pharmacogenetics - do slippery slope arguments atter? Bioethics 2004;18:361-378.
62. Parmacogenetics: ethical issues. London, UK: Nuffield Council on Bioethics, 2003.
63. Gollust SE, Hull SC, Wilfond BS. Limitations of direct-to-consumer advertising for clinical genetic testing. JAMA 2002;288:1762-1767.
64. Hull SC, Prasad K. Reading between the lines: direct-to-consumer advertising ofgenetic testing in the USA. Reprod Health Matters 2001;9:44-48.