Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research

Genetics in Medicine

Volumn 14, Issue 7, 2012, Pages 633-642

  Goddard, Katrina A B ^a   Knaus, William A ^b   Whitlock, Evelyn ^a   Lyman, Gary H ^c   Feigelson, Heather Spencer ^d   Schully, Sheri D ^e   Ramsey, Scott ^f   Tunis, Sean ^g   Freedman, Andrew N ^e   Khoury, Muin J ^e,h   Veenstra, David L ⁱ  

^a CENTER FOR HEALTH RESEARCH   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

^c DUKE CANCER INSTITUTE   (United States)

^d KAISER PERMANENTE   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

^f Fred Hutchinson Cancer Research Center   (United States)

^g Center for Medical Technology Policy   (United States)

^h NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

Author keywords

clinical utility; evidence generation; evidence synthesis; stakeholder

Indexed keywords

CYTOCHROME P450 2D6; EPIDERMAL GROWTH FACTOR RECEPTOR 2; TAMOXIFEN; TRASTUZUMAB;

BREAST CANCER; CANCER GENETICS; CANCER PROGNOSIS; CANCER RISK; CANCER SCREENING; COMPARATIVE EFFECTIVENESS; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; ECONOMIC EVALUATION; EVIDENCE BASED MEDICINE; FAMILY HISTORY; GENE EXPRESSION PROFILING; GENE MUTATION; GENOME ANALYSIS; GENOMICS; HEALTH CARE COST; HUMAN; MEDICAL DECISION MAKING; MEDICAL LITERATURE; MODEL; OBSERVATIONAL STUDY; ONCOGENE; PATIENT MONITORING; PHARMACOGENOMICS; PRACTICE GUIDELINE; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW (TOPIC); TRANSLATIONAL RESEARCH; TREATMENT RESPONSE; VALIDITY;

EID: 84863712298     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.16     Document Type: Review

References (72)

1. Limdi NA, Veenstra DL. Expectations, validity, and reality in pharmacogenetics. J Clin Epidemiol 2010;63:960-969.
2. SACGHS. U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services. http://oba.od.nih. gov/oba/SACGHS/reports/SACGHS-oversight-report.pdf. Accessed 15 September 2011.
3. Schully SD, Benedicto CB, Gillanders EM, Wang SS, Khoury MJ. Translational research in cancer genetics: the road less traveled. Public Health Genomics 2011;14:1-8.
4. Lauer MS. The historical and moral imperatives of comparative effectiveness research. Stat Med 2010;29:1982-4; discussion 1996.
5. Atkins D. Creating and synthesizing evidence with decision makers in mind: integrating evidence from clinical trials and other study designs. Med Care 2007;45(10 suppl 2):S16-S22.
6. Gatsonis C. The promise and realities of comparative effectiveness research. Stat Med 2010;29:1977-1981; discussion 1996.
7. Normand SL, McNeil BJ. What is evidence? Stat Med 2010;29:1985-1988; discussion 1996.
8. Agency for Healthcare Research and Quality. Glossary of terms. http://www. effectivehealthcare.ahrq.gov/index.cfm/glossary-of-terms/? pageaction=sho wterm&termid=118. Accessed 23 January 2011.
9. Congressional Budget Office. Research on the Comparative Effectiveness of Medical Treatments: Issues and Options for an Expanded Federal Role. http://www.cbo.gov/ftpdocs/88xx/doc8891/12-18-ComparativeEffectiveness. pdf. Accessed 22 January 2011.
10. Institute of Medicine. Initial National Priorities For Comparative Effectiveness Research. http://www.iom.edu/cerpriorities. Accessed 14 September 2011.
11. National Cancer Institute. Overview of Comparative Effectiveness Research (CER). http://cancercontrol.cancer.gov/cer/overview.html. Accessed 14 January 2011.
12. U.S. Department of Health and Human Services. Draft Definition of Comparative Effectiveness Research for the Federal Coordinating Council. http://www.hhs.gov/recovery/programs/cer/draftdefinition.html. Accessed 4 February 2011.
13. Institute of Medicine. Learning what works best: the nations need for evidence on comparative effectiveness in health care, 2007.http://www/iom.edu/ ebm-effectiveness.
14. Congress of the United States Congressional Budget Office. Research on the Comparative Effectiveness of Medical Treatments. Congress of the US Congressional Budget Office. Washington, DC, 2007.
15. Truffer CJ, Keehan S, Smith S, et al. Health spending projections through 2019: the recession's impact continues. Health Aff (Millwood) 2010;29:522-529.
16. Centers for Disease Control and Prevention. Genomic Testing: ACCE Model Process for Evaluating Genetic Tests. http://www.cdc.gov/genomics/gtesting/ACCE/ index.htm. Accessed 20 January 2011.
17. Goodman S, Dickerson K, Wilson R; CMTP. Effectiveness guidance document: gene expression profile tests for early stage breast cancer. http://cmtpnet.org/documents/egd-ge.pdf. Accessed 25 July 2011.
18. Ioannidis JP. Why most discovered true associations are inflated. Epidemiology 2008;19:640-648.
19. Kraft P. Curses-winner's and otherwise-in genetic epidemiology. Epidemiology 2008;19:649-651; discussion 657.
20. Chanock SJ, Manolio T, Boehnke M, et al.; NCI-NHGRI Working Group on Replication in Association Studies. Replicating genotype-phenotype associations. Nature 2007;447:655-660. (Pubitemid 46889722)
21. Goetz MP, Rae JM, Suman VJ, et al. Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol 2005;23:9312-9318.
22. Terasawa T, Dahabreh I, Castaldi P, Trikalinos T. Systematic Reviews on Selected Pharmacogenetic Tests for Cancer Treatment: CYP2D6 for Tamoxifen in Breast Cancer, KRAS for anti-EGFR antibodies in Colorectal Cancer, and BCR-ABL1 for Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia. Technology Assessment Report Project ID: GEN0609. http://www.cms.gov/DeterminationProcess/ downloads/id76TA.pdf. Accessed 16 September 2011.
23. Rae JM, Drury S, Hayes DF, et al. Lack of correlation between gene variants in tamoxifen metabolizing enzymes with primary endpoints in the ATAC trial. Program and abstracts of the 33rd Annual San Antonio Breast Cancer Symposium, 9 December 2010.
24. Leyland-Jones B, Regan MM, Bouzyk M, et al. Outcome according to CYP2D6 genotype among postmenopausal women with endocrine-responsive early invasive breast cancer randomized in the BIG 1-98 trial. Program and abstracts of the 33rd Annual San Antonio Breast Cancer Symposium, 9 December 2010.
25. Roche PC, Suman VJ, Jenkins RB, et al. Concordance between local and central laboratory HER2 testing in the breast intergroup trial N9831. J Natl Cancer Inst 2002;94:855-857. (Pubitemid 34705058)
26. Paik S, Bryant J, Tan-Chiu E, et al. Real-world performance of HER2 testing-National Surgical Adjuvant Breast and Bowel Project experience. J Natl Cancer Inst 2002;94:852-854. (Pubitemid 34705057)
27. Wolff AC, Hammond ME, Schwartz JN, et al.; American Society of Clinical Oncology; College of American Pathologists. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol 2007;25:118-145. (Pubitemid 350003059)
28. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? Genet Med 2009;11(1):66-73.
29. Zujewski JA, Kamin L. Trial assessing individualized options for treatment for breast cancer: the TAILORx trial. Future Oncol 2008;4:603-610.
30. SWOG. RxPONDER trial will evaluate whether gene expression test can drive chemotherapy choice. http://swog.org/visitors/newsletters/2011/04/index. asp?a=spotlight. Accessed 16 September 2011.
31. Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med 2010;362:986-993.
32. Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989;81:1879-1886. (Pubitemid 20026073)
33. Gwinn M, Grossniklaus DA, Yu W, et al. Horizon scanning for new genomic tests. Genet Med 2011;13:161-165.
34. Powell AE, Davies HT, Thomson RG. Using routine comparative data to assess the quality of health care: understanding and avoiding common pitfalls. Qual Saf Health Care 2003;12:122-128. (Pubitemid 36458149)
35. Schneeweiss S, Avorn J. A review of uses of health care utilization databases for epidemiologic research on therapeutics. J Clin Epidemiol 2005;58:323-337. (Pubitemid 40601980)
36. Thorpe KE, Zwarenstein M, Oxman AD, et al. A pragmatic-explanatory continuum indicator summary (PRECIS): a tool to help trial designers. J Clin Epidemiol 2009;62:464-475.
37. Schwartz D, Lellouch J. Explanatory and pragmatic attitudes in therapeutical trials. J Clin Epidemiol 2009;62:499-505.
38. Mohr PE, Tunis SR. Access with evidence development: the US experience. Pharmacoeconomics 2010;28:153-162.
39. Trueman P, Grainger DL, Downs KE. Coverage with Evidence Development: applications and issues. Int J Technol Assess Health Care 2010;26:79-85.
40. Centers for Medicare and Medicaid Services. Proposed Decision Memo for Pharmacogenomic Testing for Warfarin Response (CAG-00400N). https://www.cms.gov/ medicare-coverage-database/details/nca-proposeddecision-memo.aspx?NCAId= 224&ver=15&NcaName=Pharmacogenomic +Testing+for+Warfarin+Response& NCDId=333&ncdver=1&IsPopup=y&b c=AAAAAAAAIAAA&. Accessed 16 September 2011.
41. Eldridge S, Ashby D, Bennett C, Wakelin M, Feder G. Internal and external validity of cluster randomised trials: systematic review of recent trials. BMJ 2008;336:876-880. (Pubitemid 351580011)
42. Varnell SP, Murray DM, Janega JB, Blitstein JL. Design and analysis of group-randomized trials: a review of recent practices. Am J Public Health 2004;94:393-399. (Pubitemid 38269491)
43. Mazor KM, Sabin JE, Boudreau D, et al. Cluster randomized trials: opportunities and barriers identified by leaders of eight health plans. Med Care 2007;45(10 suppl 2):S29-S37.
44. Qureshi N, Armstrong S, Saukko P, et al. Realising the potential of the family history in risk assessment and primary prevention of coronary heart disease in primary care: ADDFAM study protocol. BMC Health Serv Res 2009;9:184.
45. Emery J, Morris H, Goodchild R, et al. The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care. Br J Cancer 2007;97:486-493. (Pubitemid 47258453)
46. O'Neill SM, Rubinstein WS, Wang C, et al.; Family Healthware Impact Trial group. Familial risk for common diseases in primary care: the Family Healthware Impact Trial. Am J Prev Med 2009;36:506-514.
47. Freidlin B, Jiang W, Simon R. The cross-validated adaptive signature design. Clin Cancer Res 2010;16:691-698.
48. Barker AD, Sigman CC, Kelloff GJ, Hylton NM, Berry DA, Esserman LJ. I-SPY 2: an adaptive breast cancer trial design in the setting of neoadjuvant chemotherapy. Clin Pharmacol Ther 2009;86:97-100.
49. Schneeweiss S. Developments in post-marketing comparative effectiveness research. Clin Pharmacol Ther 2007;82:143-156. (Pubitemid 47075343)
50. Habel LA, Shak S, Jacobs MK, et al. A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients. Breast Cancer Res 2006;8:R25.
51. Paik S, Shak S, Tang G, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med 2004;351:2817-2826. (Pubitemid 40051905)
52. Esteva FJ, Sahin AA, Cristofanilli M, et al. Prognostic role of a multigene reverse transcriptase-PCR assay in patients with node-negative breast cancer not receiving adjuvant systemic therapy. Clin Cancer Res 2005;11:3315-3319. (Pubitemid 40627881)
53. DeStefano F, Whitehead N, Lux LJ, Lohr KN. Infrastructure to monitor utilization and outcomes of gene-based applications: an assessment. (Prepared by RTI International DEcIDE Center under Contract No. HSA290220050036I.) AHRQ Publication No. 08-EHC012. Rockville, MD: Agency for Healthcare Research and Quality, May 2008.
54. 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 2011;14:59-67.
55. Basu A, Meltzer D. Modeling comparative effectiveness and the value of research. Ann Intern Med 2009;151:210-211.
56. Claxton KP, Sculpher MJ. Using value of information analysis to prioritise health research: some lessons from recent UK experience. Pharmacoeconomics 2006;24:1055-1068. (Pubitemid 44683363)
57. Gold MR, Siegel JE, Russell LB, Weinstein MC. Cost-Effectiveness in Health and Medicine. Oxford University Press: New York, 1996.
58. Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8:448-450. (Pubitemid 44289007)
59. Payne K, Shabaruddin FH. Cost-effectiveness analysis in pharmacogenomics. Pharmacogenomics 2010;11:643-646.
60. Neumann PJ, Cohen JT, Hammitt JK, et al. Willingness-to-pay for predictive tests with no immediate treatment implications: a survey of US residents. Health Econ 2012;21:238-251.
61. Regier DA, Ryan M, Phimister E, Marra CA. Bayesian and classical estimation of mixed logit: an application to genetic testing. J Health Econ 2009;28:598-610.
62. Boote J, Barber R, Cooper C. Principles and indicators of successful consumer involvement in NHS research: results of a Delphi study and subgroup analysis. Health Policy 2006;75:280-297. (Pubitemid 43042362)
63. O'Haire C, McPheeters M., Nakamoto EK, et al. Methods for Engaging Stakeholders To Identify and Prioritize Future Research Needs. Methods Future Research Needs Report No. 4. (Prepared by the Oregon Evidencebased Practice Center and the Vanderbilt Evidence-based Practice Center under Contract No. 290-2007-10057-I.) AHRQ Publication No. 11-EHC044-EF. Agency for Healthcare Research and Quality: Rockville, MD. http://www.effectivehealthcare.ahrq.gov/ ehc/products/200/698/MFRNGuide04-Engaging-Stakeholders-6-10-2011.pdf. Accessed 16 September 2011.
64. Hoffman A, Montgomery R, Aubry W, Tunis SR. How best to engage patients, doctors, and other stakeholders in designing comparative effectiveness studies. Health Aff (Millwood) 2010;29:1834-1841.
65. Helfand M, Tunis S, Whitlock EP, et al.; Methods Work Group of the National CTSA Strategic Goal Committee on Comparative Effectiveness Research. A CTSA agenda to advance methods for comparative effectiveness research. Clin Transl Sci 2011;4:188-198.
66. Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet Med 2009;11:570-574.
67. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. 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;9:665-674. (Pubitemid 350287151)
68. Lord SJ, Irwig L, Simes RJ. When is measuring sensitivity and specificity sufficient to evaluate a diagnostic test, and when do we need randomized trials? Ann Intern Med 2006;144:850-855. (Pubitemid 46780618)
69. Rubin DB. On the limitations of comparative effectiveness research. Stat Med 2010;29:1991-1995; discussion 1996.
70. Selker HP, Strom BL, Ford DE, et al. White paper on CTSA consortium role in facilitating comparative effectiveness research: September 23, 2009 CTSA consortium strategic goal committee on comparative effectiveness research. Clin Transl Sci 2010;3:29-37.
71. Tunis SR, Benner J, McClellan M. Comparative effectiveness research: Policy context, methods development and research infrastructure. Stat Med 2010;29:1963-1976.
72. Tunis SR, Benner J, McClellan M. Response to comments on 'Comparative Effectiveness Research'. Stat Med 2010;29:1996-1997.