Determination of genotypes using a fully automated molecular detection system

Archives of Pathology and Laboratory Medicine

Volumn 139, Issue 6, 2015, Pages 805-811

  Spizz, Gwendolyn ^a   Chen, Zongyuan ^a   Li, Peng ^a,c   McGuire, I Cristina ^a   Klimkiewicz, Paulina ^a,d   Zysling, Devin ^a   Yasmin, Rubina ^a   Hungerford, Whitney ^a   Thomas, Benjamin ^a   Wilding, Gregory ^b   Mouchka, Gregory ^a   Young, Lincoln ^a,e   Zhou, Peng ^a   Montagna, Richard A ^a  

^a Rheonix Inc   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c Thermo Fisher Scientific   (United States)

^d ROCHESTER INSTITUTE OF TECHNOLOGY   (United States)

^e INEng LLC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYP2C9 PROTEIN, HUMAN; CYTOCHROME P450 2C9; ISOENZYME; VITAMIN K EPOXIDE REDUCTASE; VKORC1 PROTEIN, HUMAN;

COMPUTER PROGRAM; DEVICES; DNA SEQUENCE; GENETICS; GENOTYPE; GENOTYPING TECHNIQUE; HUMAN; POLYMERASE CHAIN REACTION; PROCEDURES; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

CYTOCHROME P-450 CYP2C9; GENOTYPE; GENOTYPING TECHNIQUES; HUMANS; ISOENZYMES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; SOFTWARE; VITAMIN K EPOXIDE REDUCTASES;

EID: 84930394739     PISSN: 00039985     EISSN: 15432165     Source Type: Journal    
DOI: 10.5858/arpa.2014-0059-OA     Document Type: Article

References (41)

1. Giacomini KM, Yee SW, Ratain MJ, Weinshilboum RM, Kamatani N, Nakamura Y. Pharmacogenomics and patient care: one size does not fit all. Sci Transl Med. 2012;4(153):153ps18. doi:10.1126/scitranslmed.3003471.
2. McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5(189):189sr4. doi:10.1126/scitranslmed.3005785.
3. Hresko A, Haga S. Insurance coverage policies for personalized medicine. J Pers Med. 2012:2(4):201-216.
4. Sorenson C, Drummond M, Khan BB. Medical Technology as a key driver of rising healthcare expenditure: disengaging the relationship. Clinicoecon Outcomes Res. 2013;223-234. doi:10.2147/CEOR.S39634.
5. Bogousslavsky J, Regli F. Anticoagulant-induced intracerebral bleeding in brain ischemia. Evaluation in 200 patients with TIAs, emboli from the heart, and progressing stroke. Acta Neurol Scand. 1985;71(6):464-471.
6. Gullov AL, Koefoed BG, Peterson P. Bleeding complications to long-term oral anticoagulant therapy. J Thromb Thrombolysis. 1994;1(1):17-25.
7. Landefeld C, Beyth RJ. Anticoagulant-related bleeding: clinical epidemiology, prediction, and prevention. Am J Med. 1993;95(3):315-328.
8. Budnitz DS, Lovegrove MC, Shehab N, Richards CL. Emergency hospitalizations for adverse drug events in older Americans. N Engl J Med. 2011;365(21):2002-2012.
9. 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(4):625-629.
10. Gage BF, Eby C, Johnson JA, et al. Use of pharmacogenomic and clinical factors to predict the therapeutic doses of warfarin. Clin Pharmacol Ther. 2008;84(3):236-331.
11. Waldelius M, Chen LY, Lindh JD, et al. The largest prospective warfarin-treated cohort supports genetic forecasting. Blood. 2009;113(4):784-792.
12. Pavini A, Naushad SM, Rupasree Y, et al. Optimization of warfarin dose by population-specific pharmacogenomic algorithm. Pharmacogenomics J. 2012;12(4):306-311.
13. Kamali F. Genetic influences on the response to warfarin. Curr Opin Hematol. 2006;13(5):357-361.
14. Reider MJ, Reiner AP, Gage BF, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med. 2005;352(22):2285-2293.
15. Bristol-Myers Squibb. Coumadin product insert 1205736A4. Princeton, NJ: Bristol-Myers Squibb. http://packageinserts.bms.com/pi/pi-coumadin.pdf. Updated October 2011. Accessed July 8, 2013.
16. Meckley LM, Neuman PJ. Personalized medicine: factors influencing reimbursement. Health Policy. 2010;94(2):91-100.
17. Spizz G, Young L, Yasmin R, et al. Rheonix CARD technology: an innovative and fully automated molecular diagnostic device. Point Care. 2012;11(1):42-51.
18. nd ed. New York, NY: Humana Press; 2011:173-185. Methods in Molecular Biology; vol 688.
19. Boom R, Sol CJ, Salimans MM, Jansen CL, Wertheim-van Dillen PM, van der Noordaa J. Rapid and simple method for purification of nucleic acids. J Clin Microbiol. 1990;28(3):495-503.
20. Zhou P, Young L, Chen Z. Weak solvent based chip lamination and characterization of on-chip valve and pump. Biomed Microdevices. 2010;12(5):821-832.
21. You Y, Moreira BG, Behlke MA, Owczarzy R. Design of LNA probes that improve mismatch discrimination. Nucl Acids Res. 2006;34(8):e60 doi:10.1093/nar/gkl175.
22. Nakas CT, Yiannoutsos CT. Ordered multiple-class ROC analysis with continuous measurements. Stat Med. 2004;23(22):3437-3449.
23. Nakas CT, Alonzo TA, Yiannoutsos CT. Accuracy and cut-off point selection in three-class classification problems using a generalization of the Youden index. Stat Med. 2010;29(28):2946-2955.
24. Piazza G, Nguyen TN, Cios D, et al. Anticoagulation-associated adverse drug events. Am J Med. 2011;124(12):1136-1142.
25. Hirsch J, Fuster V, Ansell J, Halperin JL; American Heart Association/American College of Cardiology Foundation. American Heart Association/American College of Cardiology Foundation guide to warfarin therapy. J Am Coll Cardiol. 2003;41(9):1633-1652.
26. Douketis JD, Foster GA, Crowther MA, Prins MH, Ginsberg JS. Clinical risk factors and timing of recurrent venous thromboembolism during the initial 3 months of anticoagulant therapy. Arch Intern Med. 2000;160(22):3431-3436.
27. Kimmel SE, French B, Kasner SE, et al COAG Investigators. A pharmacogenetic versus a clinical algorithm for warfarin dosing. New Eng J Med. 2013;369(24):2283-2293.
28. Verhoef TI, Ragia G, de Boer A, et al EU-PACT Group. A randomized trial of genotype-guided dosing of acenocoumarol and phenprocoumon. New Eng J Med. 2013;369(24):2304-2312.
29. Pirmohamed M, Burnside G, Eriksson N, et al EU-PACT Group. A randomized trial of genotype-guided dosing of warfarin. New Engl J Med. 2013;369(24):2294-2303.
30. Zineh I, Pacanowski M, Woodcock J. Pharmacogenetics and coumarin dosing-recalibrating expectations. New Eng J Med. 2013;369(24):2273-2275.
31. Mega JL, Close SL, Wiviott SD, et al. Cytochrome P-450 polymorphisms and response to clopidogrel. New Engl J Med. 2009;360(4):354-362.
32. Bristol-Myers Squibb. Plavix (clopidogrel bisulfate) product insert. Bridgewater, New Jersey: Bristol-Myers Squibb. http://packageinserts.bms.com/pi/pi-plavix.pdf. Updated December 2013. Accessed December 13, 2013.
33. Gurbel PA, Tantry US. Drug insight: clopidogrel nonresponsiveness. Nat Clin Pract Cardiovasc Med. 2006;3(7):387-395.
34. Gurbel PA, Bliden KP, Hiatt BL, O'Connor CM. Clopidogrel for coronary stenting: response variability, drug resistance, and the effect of pretreatment platelet reactivity. Circulation. 2003;107(23):2908-2913.
35. Angiolillo DJ, Fernandez-Ortiz A, Bernardo E, et al. Variability in individual responsiveness to clopidogrel: clinical implications, management, and future perspectives. J Am Coll Cardiol. 2007;49(14):1505-1516.
36. O'Donoghue M, Wiviott SD. Clopidogrel response variability and future therapies: clopidogrel: does one size fit all? Circulation. 2006;114(22):e600-e606. doi:10.1161/CIRCULATIONAHA.106.643171.
37. Shehab N, Sperling LS, Kegler SR, Budnitz D/s. National estimates of emergency department visits for hemorrhage-related adverse events from clopidogrel plus aspirin and from warfarin. Arch Intern Med. 2010;170(21):1926-1933.
38. Perry CG, Shuldiner AR. Pharmacogenomics of anti-platelet therapy: how much evidence is enough for clinical implementation? J Hum Genet. 2013;58(6):339-345.
39. Manolio TA, Chisholm RL, Ozenberger B, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013;15(4):258-267.
40. McClain MR, Palomaki GE, Piper M, Haddow JE. A rapid-ACCE review of CYP2C9 and VKORC1 alleles to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding. Genet Med. 2008;10(2):89-98.
41. Zhang Y, Coyne MY, Will SG, Levenson CH, Kawasaki ES. Single-base mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides. Nucleic Acids Res. 1991;19(14):3929-3933.