Issues surrounding the health economic evaluation of genomic technologies

Pharmacogenomics

Volumn 14, Issue 15, 2013, Pages 1833-1847

  Buchanan, James ^a   Wordsworth, Sarah ^a   Schuh, Anna ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Cost benefit analysis; Cost effectiveness analysis; Costs; Economic evaluation; Effectiveness; Extra welfarism; Genetics; Genomics; Outcomes; Review; Welfarism

Indexed keywords

ANALYTIC METHOD; ARTICLE; BIOTECHNOLOGY; COST BENEFIT ANALYSIS; COST EFFECTIVENESS ANALYSIS; DATA ANALYSIS; ECONOMIC EVALUATION; GENETIC PROCEDURES; GENOMICS; HEALTH CARE COST; HEALTH ECONOMICS; HEALTH PERSONNEL ATTITUDE; INFORMATION PROCESSING; OUTCOME ASSESSMENT; PATIENT ATTITUDE; QUALITY CONTROL; STANDARDIZATION;

COST-BENEFIT ANALYSIS; GENOMICS; HUMANS; TECHNOLOGY;

EID: 84893475657     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/PGS.13.183     Document Type: Article

References (78)

1. Trusheim MR, Berndt ER, Douglas FL. Stratified medicine: strategic and economic implications of combining drugs and clinical biomarkers. Nat. Rev. Drug Discov. 6(4), 287-293 (2007). (Pubitemid 46505879)
2. Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet. 24(3), 133-141 (2008).
3. Ioannidis JPA, Khoury MJ. Are randomized trials obsolete or more important than ever in the genomic era? Genome Med. 5(4), 32 (2013).
4. Payne K. Fish and chips all round? Regulation of DNA-based genetic diagnostics. Health Econ. 18(11), 1233-1236 (2009).
5. Van Rooij T, Wilson DM, Marsh S. Personalized medicine policy challenges: measuring clinical utility at point of care. Expert Rev. Pharmacoecon. Outcomes Res. 12(3), 289-295 (2012).
6. Rogowski WH, Grosse SD, John J et al. Points to consider in assessing and appraising predictive genetic tests. J. Community Genet. 1(4), 185-194 (2010).
7. Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics 13(2), 106-115 (2010).
8. Giacomini M, Miller F, O'Brien BJ. Economic considerations for health insurance coverage of emerging genetic tests. Community Genet. 6(2), 61-73 (2003). (Pubitemid 37323444)
9. 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. 13(2), 89-94 (2011).
10. Evans JP, Berg JS, Olshan AF, Magnuson T, Rimer BK. We screen newborns, don't we?: realizing the promise of public health genomics. Genet. Med. 15(5), 332-334 (2013).
11. Rogowski WH. Current impact of gene technology on healthcare. A map of economic assessments. Health Policy 80(2), 340-357 (2007).
12. Rogowski WH. The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study. Med. Decis. Making 29(2), 224-238 (2009).
13. Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat. Rev. Genet. 10(7), 489-495 (2009). • Notes that the evidence surrounding the benefits and harms of genetic and genomic tests is frequently weak, and discusses ways in which the translational research agenda can be improved to resolve some of these issues.
14. Rogowski WH. Genetic screening by DNA technology: a systematic review of health economic evidence. Int. J. Technol. Assess. Health Care 22(3), 327-337 (2006).
15. Goddard KA, Knaus WA, Whitlock E et al. Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research. Genet. Med. 14(7), 633-642 (2012).
16. Lin X, Tang W, Ahmad S et al. Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear. Res. 288(1-2), 67-76 (2012).
17. Conti R, Veenstra DL, Armstrong K, Lesko LJ, Grosse SD. Personalized medicine and genomics: challenges and opportunities in assessing effectiveness, cost-effectiveness, and future research priorities. Med. Decis. Making 30(3), 328-340 (2010).
18. Rogowski W. Current impact of gene technology on healthcare. A map of economic assessments. Health Policy 80(2), 340-357 (2007). (Pubitemid 44914099)
19. Ransohoff DF, Khoury MJ. Personal genomics: information can be harmful. Eur. J. Clin. Invest. 40(1), 64-68 (2010).
20. Roth JA, Garrison LP Jr, Burke W, Ramsey SD, Carlson R, Veenstra DL. Stakeholder perspectives on a risk-benefit framework for genetic testing. Public Health Genomics 14(2), 59-67 (2011).
21. Mihaescu R, van Hoek M, Sijbrands EJ et al. Evaluation of risk prediction updates from commercial genome-wide scans. Genet. Med. 11(8), 588-594 (2009).
22. Grosse SD, Kalman L, Khoury MJ. Evaluation of the validity and utility of genetic testing for rare diseases. Adv. Exp. Med. Biol. 686, 115-131 (2010).
23. Alberts SR, Yu T, Behrens RJ et al. Real-world comparative economics of a 12-gene assay for prognosis in stage II colon cancer. J. Clin. Oncol. 31(4), 391 (2013).
24. Holt S, Bertelli G, Humphreys I et al. A decision impact, decision conflict and economic assessment of routine Oncotype DX testing of 146 women with node-negative or pNImi, ER-positive breast cancer in the UK. Br. J. Cancer 108(11), 2250-2258 (2013).
25. Wordsworth S, Buchanan J, Papanicolas I, Taylor J, Frayling I, Tomlinson I. Molecular testing for somatic mutations in common cancers: the views of UK oncologists. J. Clin. Pathol. 61(6), 761-765 (2008). (Pubitemid 351859971)
26. Hall PS, McCabe C, Stein RC, Cameron D. Economic evaluation of genomic test-directed chemotherapy for early-stage lymph node-positive breast cancer. J. Natl Cancer Inst. 104(1), 56-66 (2012).
27. Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet. Med. 7(7), 495-500 (2005). (Pubitemid 41445490)
28. Ladabaum U, Wang G, Terdiman J et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer. Ann. Intern. Med. 155(2), 69-79 (2011).
29. Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet. Med. 12(2), 93-104 (2010).
30. McCormick P. Development of personalised medicines for rare genetic conditions: some problems. In: Society for Genomics Policy and Population Health, Spring Conference. London, UK (2012).
31. Feero W, Wicklund C, Veenstra DL. The economics of genomic medicine: insights from the iom roundtable on translating genomic-based research for health. JAMA 309(12), 1235-1236 (2013).
32. Payne K. Towards an economic evidence base for pharmacogenetics: consideration of outcomes is key. Pharmacogenomics 9(1), 1-4 (2007). (Pubitemid 351560527)
33. Faulkner E, Annemans L, Garrison L et al. Challenges in the development and reimbursement of personalized medicine- payer and manufacturer perspectives and implications for health economics and outcomes research: a report of the ISPOR Personalized Medicine Special Interest Group. Value Health 15(8), 1162-1171 (2012). • Highlights the key gaps in health economics and outcomes research best practices in genetics and genomics, and suggests ways in which health economists can improve current practice in this field.
34. Singer DRJ, Watkins J. Using companion and coupled diagnostics within strategy to personalize targeted medicines. Pers. Med. 9(7), 751-761 (2012).
35. Veenstra DL, Higashi MK, Phillips KA. Assessing the cost-effectiveness of pharmacogenomics. AAPS PharmSci. 2(3), E29 (2000).
36. Wordsworth S, Buchanan J, Regan R et al. Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom. Genomic Med. 1(1-2), 35-45 (2007). (Pubitemid 47319597)
37. Vataire AL, Laas E, Aballea S, Gligorov J, Rouzier R, Chereau E. Cost-effectiveness of a chemotherapy predictive test. Bull. Cancer 99(10), 907-914 (2012).
38. Deverka PA, Schully SD, Ishibe N et al. Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies. Genet. Med. 14(7), 656-662 (2012).
39. Malhotra AK, Zhang JP, Lencz T. Pharmacogenetics in psychiatry: translating research into clinical practice. Mol. Psychiatry 17(8), 760-769 (2012).
40. De Leon J. Pharmacogenomics: the promise of personalized medicine for CNS disorders. Neuropsychopharmacology 34(1), 159-172 (2009).
41. Van Den Akker-Van Marle ME, Gurwitz D, Detmar SB et al. Cost-effectiveness of pharmacogenomics in clinical practice: a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe. Pharmacogenomics 7(5), 783-792 (2006). (Pubitemid 44225913)
42. Knight SJL, Yau C, Clifford R et al. Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia. Leukemia 26(7), 1564-1575 (2012).
43. Gurwitz D, Zika E, Hopkins MM, Gaisser S, Ibarreta D. Pharmacogenetics in Europe: barriers and opportunities. Public Health Genomics 12(3), 134-141 (2009).
44. Jarrett J, Mugford M. Genetic health technology and economic evaluation: a critical review. Appl. Health Econ. Health Policy 5(1), 27-35 (2006). (Pubitemid 43927197)
45. Bajaj PS, Veenstra DL. A risk-benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics. Genet. Med. 15(5), 374-381 (2013).
46. Grosse SD, Wordsworth S, Payne K. Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis. Genet. Med. 10(9), 648-654 (2008). • Discusses the relative merits of different economic methods for valuing the outcomes of genetic testing and recommends that decision-makers more comprehensively consider the nonhealth outcomes of genetic testing.
47. Guzauskas GF, Garrison LP, Stock J, Au S, Doyle DL, Veenstra DL. Stakeholder perspectives on decision-analytic modeling frameworks to assess genetic services policy. Genet. Med. 15(1), 84-87 (2013).
48. Veenstra DL, Piper M, Haddow JE et al. Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet. Med. 15(1), 14-24 (2013).
49. Payne K, McAllister M, Davies LM. Valuing the economic benefits of complex interventions: when maximising health is not sufficient. Health Econ. 22(3), 258-271 (2012). • Notes that complex interventions may be problematic for health economists to evaluate and suggests that a more considered approach is required to account for the perceived value of nonhealth outcomes of genetic testing.
50. Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet. Med. 11(8), 570-574 (2009). • Evaluates whether existing measures of utility are sufficient to evaluate genetic tests and details how health economists may go about measuring personal utility more effectively.
51. Garau M, Towse A, Garrison L, Housman L, Ossa D. Can and should value based pricing be applied to molecular diagnostics? Personalized Medicine 10(1), 61-72 (2013).
52. Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet. Med. 8(7), 448-450 (2006). (Pubitemid 44289007)
53. Asch DA, Hershey JC, Pauly MV, Patton JP, Jedrziewski MK, Mennuti MT. Genetic screening for reproductive planning: methodological and conceptual issues in policy analysis. Am. J. Public Health 86(5), 684-690 (1996). (Pubitemid 26145482)
54. Caughey AB. Cost-effectiveness analysis of prenatal diagnosis: methodological issues and concerns. Gynecol. Obstet. Invest. 60(1), 11-18 (2005). (Pubitemid 41096234)
55. Grosse SD, McBride CM, Evans JP, Khoury MJ. Personal utility and genomic information: look before you leap. Genet. Med. 11(8), 575-576 (2009).
56. Khoury MJ, Gwinn M, Dotson WD, Bowen MS. Is there a need for PGxceptionalism? Genet. Med. 13(10), 866-867 (2011).
57. Issa AM. Evaluating the value of genomic diagnostics: implications for clinical practice and public policy. Adv. Health Econ. Health Serv. Res. 19, 191-206 (2008).
58. Issa A, Tufail W, Ajike R, Tenorio J, McKeever J. Breast and colorectal cancer patients' preferences for pharmacogenomics: a discrete choice experiment. Presented at: 27th International Conference on Pharmacoepidemiology and Therapeutic Risk Management Chicago, IL, USA, 14-17 August 2011.
59. Van Bebber SL, Liang SY, Phillips KA, Marshall D, Walsh J, Kulin N. Valuing personalized medicine: willingness to pay for genetic testing for colorectal cancer risk. Pers. Med. 4(3), 341-350 (2007). (Pubitemid 47354517)
60. Phillips KA, Liang SY, Van Bebber S et al. Challenges to the translation of genomic information into clinical practice and health policy: utilization, preferences and economic value. Curr. Opin. Mol. Ther. 10(3), 260-266 (2008). (Pubitemid 351799277)
61. Thariani R, Veenstra DL, Carlson JJ, Garrison LP, Ramsey S. Paying for personalized care: cancer biomarkers and comparative effectiveness. Mol. Oncol. 6(2), 260-266 (2012).
62. Van Bebber SL, Keegan HL, Phillips KA, Issa AM. Novel personalized medicine technology: UGT1A1 testing for irinotecan as a case study. Pers. Med. 3(4), 415-419 (2006). (Pubitemid 46017514)
63. Khoury MJ, Rich EC, Randhawa G, Teutsch SM, Niederhuber J. Comparative-effectiveness research and genomic medicine: an evolving partnership for 21st century medicine. Genet. Med. 11(10), 707-711 (2009).
64. Beauchamp JP, David C, Magnus J et al. Molecular genetics and economics. J. Econ. Perspect. 25(4), 57-82 (2011).
65. Rogowski WH, Grosse SD, Meyer E, John J, Palmer S. Using value of information analysis in decision making about applied research: the case of genetic screening for hemochromatosis in Germany. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 55(5), 700-709 (2012).
66. Flowers CR, Veenstra D. The role of cost-effectiveness analysis in the era of pharmacogenomics. Pharmacoeconomics 22(8), 481-493 (2004). (Pubitemid 38858292)
67. Regier DA, Friedman JM, Marra CA. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am. J. Hum. Genet. 86(5), 765-772 (2010).
68. National Institute for Health and Clinical Excellence: Familial breast cancer: the classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care (2006). www.nice.org.uk/nicemedia/pdf/ cg41niceguidance.pdf
69. US FDA: Drugs@FDA online database (2013). www.accessdata.fda.gov/scripts/ cder/drugsatfda
70. Genomic Health: Annual Report (2012). http://investor.genomichealth.com/ annuals. cfm
71. NICE. Diagnostics consultation document: gene expression profiling and expanded immunohistochemistry tests to guide the use of adjuvant chemotherapy in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat (2013). www.nice.org.uk/nicemedia/live/13283/58040/58040.pdf
72. House of Lords Science and Technology Committee: Genomic Medicine (2009). www.publications.parliament.uk/pa/ld200809/ldselect/ldsctech/107/107i.pdf
73. PHG Foundation: next steps in the sequence: the implications of whole genome sequencing for health in the UK (2011). www.phgfoundation.org/reports/ 10364 • Considers the consequences of more widespread use of whole-genome sequencing, noting that outcomes evidence and health economic modeling of the impact of genomic analyses are urgently needed to identify costs and savings.
74. CDC: Genomic testing (2012). www.cdc.gov/genomics/gtesting
75. NIH. US National Library of Health. Medical Subject Headings. www.nlm.nih.gov/mesh
76. The Academy of Medical Sciences: realising the potential of stratified medicine (2013). www.acmedsci.ac.uk/p118.html
77. Wetterstrand KA. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP) (2013). www.genome.gov/sequencingcosts
78. National Institute for Health and Clinical Excellence. Methods for the development of NICE public health guidance (3rd Edition) (2012). http://publications.nice.org.uk/methods-for-the-development-of-nice-public- health-guidance-third-edition-pmg4