Genetic testing and economic evaluations: A systematic review of the literature

Epidemiologia e Prevenzione

Volumn 39, Issue 4, 2015, Pages 45-50

  D'Andrea, Elvira ^a   Marzuillo, Carolina ^a   Pelone, Ferruccio ^b   De Vito, Corrado ^a   Villari, Paolo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

BRCA1 2; Cost effectiveness; Genetic tests; Pharmacogenetic tests; Systematic review

Indexed keywords

BREAST NEOPLASMS; COST BENEFIT ANALYSIS; EARLY CANCER DIAGNOSIS; ECONOMICS; FEMALE; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GLOBAL HEALTH; HEALTH CARE COST; HEALTH CARE DELIVERY; HUMAN; LIFE EXPECTANCY; OVARIAN NEOPLASMS; PHARMACOGENETIC TESTING; QUALITY ADJUSTED LIFE YEAR; REIMBURSEMENT; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; COST-BENEFIT ANALYSIS; DELIVERY OF HEALTH CARE; EARLY DETECTION OF CANCER; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GLOBAL HEALTH; HEALTH CARE COSTS; HUMANS; INSURANCE, HEALTH, REIMBURSEMENT; LIFE EXPECTANCY; OVARIAN NEOPLASMS; PHARMACOGENOMIC TESTING; QUALITY-ADJUSTED LIFE YEARS;

EID: 84968919475     PISSN: 11209763     EISSN: 23851937     Source Type: Journal    
DOI: None     Document Type: Review

References (38)

1. Ministry of Health. 2014-2018 National Prevention Plan, Italy. http://www.salute.gov.it/portale/documentazione/p6-2-2-1.jsp?lingua= italiano&id=2285 (accessed May 25, 2015).
2. Khoury MJ, Gwinn M, Yoon PW, et al. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med 2007;9:665-74.
3. Khoury MJ, Coates RJ, Evans JP. Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet Med 2010; 12: 680-83.
4. Col NF. The use of gene tests to detect hereditary predisposition to chronic disease: is cost-effectiveness analysis relevant? Med Decis Making 2003;23:441-48.
5. Drummond MF, Sculpher MJ, Torrance GW, O'Brien BJ, Stoddart GL. Methods for the economic evaluation of health care programmes. Third edition. Oxford, Oxford University Press, 2005.
6. Chiou CF, Hay JW, Wallace JF, et al. Development and validation of a grading system for the quality of cost-effectiveness studies. Med Care 2003;41:32-44.
7. Carande-Kulis V, Maciosek M, Briss P, et al. Methods for systematic reviews of economic evaluations for the guide to community preventive services. Am J Prev Med 2000;18(1S):75-91.
8. Shemilt I, Mugford M, Byford S, et al. Chapter 15. Incorporating economics evidence. In:Higgins JPT, Green S (eds).Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 [updated March 2011]. The Cochrane Collaboration, 2011. http://www.cochrane-handbook.org
9. Centre for Reviews and Dissemination (CRD). Chapter 5: Systematic Reviews of Economic Evaluations. In: Systematic reviews: CRD's guidance for undertaking reviews in health care. York, CRD, 2009.
10. Gold M, Siegel J, Russel L, Weinstein M. Cost-effectiveness in Health and Medicine. New York, Oxford University Press, 1996.
11. Cost-effectiveness Analysis (CEA) Registry. Boston, Tufts Medical Center; 2015. https://research.tufts-nemc.org/cear4/ (accessed May 26, 2015).
12. Assasi N, Schwartz L, Tarride JE, Goeree R, Xie F. Economic evaluations conducted for assessment of genetic testing technologies: a systematic review. Genet Test Mol Biomarkers 2012;16:1322-35.
13. Beaulieu M, de Denus S, Lachaine J. Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics 2010;11:1573-90.
14. Djalalov S, Musa Z, Mendelson M, Siminovitch K, Hoch J. A review of economic evaluations of genetic testing services and interventions (2004-2009). Genet Med 2011;13:89-94.
15. Giacomini M, Miller F, O'Brien BJ. Economic considerations for health insurance coverage of emerging genetic tests. Community Genet 2003;6:61-73.
16. Carlson JJ, Henrikson NB, Veenstra DL, Ramsey SD. Economic analyses of human genetics services: a systematic review. Genet Med 2005;7:519-23.
17. Phillips KA, Van Bebber SL. A systematic review of cost-effectiveness analyses of pharmacogenomic interventions. Pharmacogenomics 2004;5:1139-49.
18. Wong WB, Carlson JJ, Thariani R, Veenstra DL. Cost effectiveness of pharmacogenomics: a critical and systematic review. Pharmacoeconomics 2010;28:1001-13.
19. Rogowski W. Genetic screening by DNA technology: a systematic review of health economic evidence. Int J Technol Assess Health Care 2006;22:327-37.
20. Sullivan W, Evans DG, Newman WG, Ramsden SC, Scheffer H, Payne K. Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence? Genet Test Mol Biomarkers 2012;16:580-91.
21. 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;26:569-87.
22. Verhoef TI, Redekop WK, Darba J, et al. A systematic review of cost-effectiveness analyses of pharmacogenetic-guided dosing in treatment with coumarin derivatives. Pharmacogenomics 2010;11:989-1002.
23. US. Preventive Services Task Force (USPSTF). Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer. Systematic Review to Update the U.S. Preventive Services Task Force Recommendation. Evidence Syntheses, No. 101. Rockville (MD), Agency for Healthcare Research and Quality, 2013.
24. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007;25:1329-33.
25. Grann VR, Whang W, Jacobson JS, Heitjan DF, Antman KH, Neugut AI. Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. J Clin Oncol 1999;17:494-500.
26. Rubinstein WS, Jiang H, Dellefave L, Rademaker AW. Cost-effectiveness of population-based BRCA 1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue. Genet Med 2009;11:629-39.
27. Manchanda R, Legood R, Burnell M, et al. Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing. J Natl Cancer Inst 2014;107:380.
28. Holland ML, Huston A, Noyes K. Cost-effectiveness of testing for breast cancer susceptibility genes. Value Health 2009;12:207-16.
29. Balmaña J1, Sanz J, Bonfill X, et al. Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio. Int J Cancer 2004;112:647-52.
30. Tengs TO, Berry DA The cost effectiveness of testing for the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes. Dis Manage Clin Outcomes 2000;1:15-24.
31. Kwon JS, Gutierrez-Barrera AM, Young D, et al. Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol 2009;28:4214-20.
32. Heimdal K, Maehle L, Møller P. Costs and benefits of diagnosing familial breast cancer. Dis Markers 1999; 15(1-3):167-73.
33. Kwon JS, Daniels MS, Sun CC, Lu KH. Preventing future cancers by testing women with ovarian cancer for BRCA mutations. J Clin Oncol 2010;28:675-82.
34. Centers for Disease Control and Prevention. Public Health Genomics. Genomic Tests and Family History by Levels of Evidence. http://www.cdc.gov/genomics/gtesting/tier.htm(accessed May 25, 2015).
35. Phillips KA, Ann Sakowski J, Trosman J, Douglas MP, Liang SY, Neumann P. The economic value of personalized medicine tests: what we know and what we need to know. Genet Med 2014;16:251-7.
36. Grosse SD. Economic analyses of genetic tests in personalized medicine: clinical utility first, then cost utility. Genet Med 2014;16:225-7.
37. Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 2009;10:489-95.
38. Cohen JT, Neumann PJ, Weinstein MC. Does preventive care save money? Health economics and the presidential candidates. N Engl J Med 2008;358:661-63.