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Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?
M Verbelen, M E Weale, C M Lewis
The Pharmacogenomics Journal · 2017 · Review
Abstract
Pharmacogenetics (PGx) has the potential to personalize pharmaceutical treatments. Many relevant gene-drug associations have been discovered, but PGx guided treatment needs to be cost-effective as well as clinically beneficial to be incorporated into standard healthcare. Progress in this area can be assessed by reviewing economic evaluations to determine the cost-effectiveness of PGx testing versus standard treatment. We performed a review of economic evaluations for PGx associations listed in the US Food and Drug Administration (FDA) Table of Pharmacogenomic Biomarkers in Drug Labeling ( http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm ). We determined the proportion of evaluations that found PGx guided treatment to be cost-effective or dominant over the alternative strategies, and we estimated the impact on this proportion of removing the cost of genetic testing. Of the 130 PGx associations in the FDA table, 44 economic evaluations, relating to 10 drugs, were identified. Of these evaluations, 57% drew conclusions in favour of PGx testing, of which 30% were cost-effective and 27% were dominant (cost-saving). If genetic information was freely available, 75% of economic evaluations would support PGx guided treatment, of which 25% would be cost-effective and 50% would be dominant. Thus, PGx guided treatment can be a cost-effective and even cost-saving strategy. Having genetic information readily available in the clinical health record is a realistic future prospect, and would make more genetic tests economically worthwhile. However, few drugs with PGx associations have been studied and more economic evaluations are needed to underpin the uptake of genetic testing in clinical practice.
References 77
- 1.
Mallal S, Phillips E, Carosi G, Molina J-M, Workman C, Tomažič J et al. HLA-B* 5701 screening for hypersensitivity to abacavir. N Engl J Med 2008; 358: 568–579.
Not in our library10.1056/nejmoa0706135
- 2.
Chung W-H, Hung S-I, Hong H-S, Hsih M-S, Yang L-C, Ho H-C et al. Medical genetics: a marker for Stevens–Johnson syndrome. Nature 2004; 428: 486–486.
Not in our library10.1038/428486a
- 3.
Wadelius M, Chen LY, Eriksson N, Bumpstead S, Ghori J, Wadelius C et al. Association of warfarin dose with genes involved in its action and metabolism. Hum Genet 2007; 121: 23–34.
Not in our library10.1007/s00439-006-0260-8
- 4.
U.S. Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labeling. Available at http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm (accessed on 18 September 2015).
Not in our library
- 5.
Centers for Disease Control and Prevention. Genomic Tests and Family Health History by Levels of Evidence: Public Health Genomics. Available at http://www.cdc.gov/genomics/gtesting/tier.htm (accessed on 17 February 2016).
Not in our library
- 6.
Rubinstein WS, Maglott DR, Lee JM, Kattman BL, Malheiro AJ, Ovetsky M et al. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res 2013; 41: 925–935.
Not in our library10.1093/nar/gks1173
- 7.
Haycox A, Pirmohamed M, McLeod C, Houten R, Richards S. Through a glass darkly: economics and personalised medicine. Pharmacoeconomics 2014; 32: 1055–1061.
Not in our library10.1007/s40273-014-0190-6
- 8.
Phillips KA, Van Bebber SL. A systematic review of cost-effectiveness analyses of pharmacogenomic interventions. Pharmacogenomics 2004; 5: 1139–1149.
Not in our library10.1517/14622416.5.8.1139
- 9.
Vegter S, Boersma C, Rozenbaum M, Wilffert B, Navis G, Postma MJ. Pharmacoeconomic evaluations of pharmacogenetic and genomic screening programmes: a systematic review on content and adherence to guidelines. PharmacoEconomics 2008; 26: 569–587.
Not in our library10.2165/00019053-200826070-00005
- 10.
Hatz MHM, Schremser K, Rogowski WH. Is individualized medicine more cost-effective? A systematic review. PharmacoEconomics 2014; 32: 443–455.
Not in our library10.1007/s40273-014-0143-0
- 11.
Phillips KA, Ann Sakowski J, Trosman J, Douglas MP, Liang S-Y, Neumann P. The economic value of personalized medicine tests: what we know and what we need to know. Genet Med 2014; 16: 251–257.
Not in our library10.1038/gim.2013.122
- 12.
Beaulieu M, de Denus S, Lachaine J. Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics 2010; 11: 1573–1590.
Not in our library10.2217/pgs.10.145
- 13.
Payne K, Shabaruddin FH. Cost-effectiveness analysis in pharmacogenomics. Pharmacogenomics 2010; 11: 643–646.
Not in our library10.2217/pgs.10.45
- 14.
Shabaruddin FH, Fleeman ND, Payne K. Economic evaluations of personalized medicine: existing challenges and current developments. PharmacoEcon Personalized Med 2015; 8: 115–126.
Not in our library10.2147/pgpm.s35063
- 15.
Vegter S, Jansen E, Postma MJ, Boersma C. Economic evaluations of pharmacogenetic and genomic screening programs: update of the literature. Drug Dev Res 2010; 71: 492–501.
Not in our library
- 16.
Wong WB, Carlson JJ, Thariani R, Veenstra DL. Cost effectiveness of pharmacogenomics: a critical and systematic review. PharmacoEconomics 2010; 28: 1001–1013.
Not in our library10.2165/11537410-000000000-00000
- 17.
Nixon J, Stoykova B, Christie J, Glanville J, Kleijnen J, Drummond M. NHS Economic Evaluation Database for healthcare decision makers. BMJ 2000; 321: 32.
Not in our library10.1136/bmj.321.7252.32
- 18.
University of York Centre for Reviews and Dissemination. Welcome to the CRD Database Available at http://www.crd.york.ac.uk/CRDWeb/HomePage.asp (accessed on 30 October 2015).
Not in our library
- 19.
Beresniak A, Medina-Lara A, Auray JP, De Wever A, Praet JC, Tarricone R et al. Validation of the underlying assumptions of the quality-adjusted life-years outcome: results from the ECHOUTCOME European project. PharmacoEconomics 2015; 33: 61–69.
Not in our library10.1007/s40273-014-0216-0
- 20.
McCabe C, Claxton K, Culyer A. The NICE Cost-Effectiveness Threshold. PharmacoEconomics 2008; 26: 733–744.
Not in our library10.2165/00019053-200826090-00004
- 21.
Dong D, Sung C, Finkelstein EA. Cost-effectiveness of HLA-B*1502 genotyping in adult patients with newly diagnosed epilepsy in Singapore. Neurology 2012; 79: 1259–1267.
Not in our library10.1212/wnl.0b013e31826aac73
- 22.
Pink J, Pirmohamed M, Lane S, Hughes DA. Cost-effectiveness of pharmacogenetics-guided warfarin therapy vs. alternative anticoagulation in atrial fibrillation. Clin Pharmacol Ther 2014; 95: 199–207.
Not in our library10.1038/clpt.2013.190
- 23.
Nshimyumukiza L, Duplantie J, Gagnon M, Douville X, Fournier D, Lindsay C et al. Dabigatran versus warfarin under standard or pharmacogenetic-guided management for the prevention of stroke and systemic thromboembolism in patients with atrial fibrillation: a cost/utility analysis using an analytic decision model. Thromb J 2013; 11: 14.
Not in our library10.1186/1477-9560-11-14
- 24.
Patrick AR, Avorn J, Choudhry NK. Cost-effectiveness of genotype-guided warfarin dosing for patients with atrial fibrillation. Circ Cardiovasc Qual Outcomes 2009; 2: 429–436.
Not in our library10.1161/circoutcomes.108.808592
- 25.
Sorich MJ, Horowitz JD, Sorich W, Wiese MD, Pekarsky B, Karnon JD. Cost-effectiveness of using CYP2C19 genotype to guide selection of clopidogrel or ticagrelor in Australia. Pharmacogenomics 2013; 14: 2013–2021.
Not in our library10.2217/pgs.13.164
- 26.
Lala A, Berger JS, Sharma G, Hochman JS, Scott Braithwaite R, Ladapo JA. Genetic testing in patients with acute coronary syndrome undergoing percutaneous coronary intervention: a cost-effectiveness analysis. J Thromb Haemost 2013; 11: 81–91.
Not in our library10.1111/jth.12059
- 27.
Wiley Online Library, John Wiley & Sons Ltd. HEED: Health Economic Evaluations Database. Available at: http://onlinelibrary.wiley.com/book/10.1002/9780470510933 (accessed on 28 January 2016).
Not in our library
- 28.
Altar CA, Carhart J, Allen JD, Hall-Flavin D, Winner J, Dechairo B. Clinical utility of combinatorial pharmacogenomics-guided antidepressant therapy: evidence from three clinical studies. Mol Neuropsychiatry 2015; 1: 145–155.
Not in our library10.1159/000430915
- 29.
Hornberger J, Li Q, Quinn B. Cost-effectiveness of combinatorial pharmacogenomic testing for treatment-resistant major depressive disorder patients. Am J Manag Care 2014; 21: e357–e365.
Not in our library
- 30.
You JH. Pharmacogenetic-guided selection of warfarin versus novel oral anticoagulants for stroke prevention in patients with atrial fibrillation: a cost-effectiveness analysis. Pharmacogenet Genomics 2014; 24: 6–14.
Not in our library10.1097/fpc.0000000000000014
- 31.
Stergiopoulos K, Brown DL. Genotype-guided vs clinical dosing of warfarin and its analogues: meta-analysis of randomized clinical trials. JAMA Intern Med 2014; 174: 1330–1338.
Not in our library10.1001/jamainternmed.2014.2368
- 32.
U.S. Food and Drug Administration. Ziagen Prescribing Information. Available at http://www.accessdata.fda.gov/drugsatfda_docs/label/2015/020977s030,020978s034lbl.pdf (accessed on 2 February 2016).
Not in our library
- 33.
23andMe Inc. 23andMe: Welcome. Available at https://www.23andme.com/en-gb (accessed on 1 February 2016).
Not in our library
- 34.
- 35.
Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP). Available at www.genome.gov/sequencingcostsdata (accessed on 27 January 2016).
Not in our library
- 36.
Genomics England: Genomics England is delivering the 100,000 Genomes Project. Available at http://www.genomicsengland.co.uk (accessed on 31 March 2016).
Not in our library
- 37.
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther 2012; 92: 414–417.
Not in our library10.1038/clpt.2012.96
- 38.
Hughes DA, Vilar FJ, Ward CC, Alfirevic A, Park BK, Pirmohamed M. Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity. Pharmacogenetics 2004; 14: 335–342.
Not in our library10.1097/00008571-200406000-00002
- 39.
Schackman BR, Scott CA, Walensky RP, Losina E, Freedberg KA, Sax PE. The cost-effectiveness of HLA-B*5701 genetic screening to guide initial antiretroviral therapy for HIV. AIDS 2008; 22: 2025–2033.
Not in our library10.1097/qad.0b013e3283103ce6
- 40.
Kauf TL, Farkouh RA, Earnshaw SR, Watson ME, Maroudas P, Chambers MG. Economic efficiency of genetic screening to inform the use of abacavir sulfate in the treatment of HIV. Pharmacoeconomics 2010; 28: 1025–1039.
Not in our library10.2165/11535540-000000000-00000
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