"Is it really worth it to get tested?": Primary care patients' impressions of predictive SNP testing for colon cancer

Journal of Genetic Counseling

Volumn 22, Issue 1, 2013, Pages 138-151

  Leventhal, Kara Grace ^a   Tuong, William ^a   Peshkin, Beth N ^a   Salehizadeh, Yasmin ^a   Fishman, Mary B ^b   Eggly, Susan ^c   Fitzgerald, Kevin ^a   Schwartz, Marc D ^a   Graves, Kristi D ^a  

^a GEORGETOWN UNIVERSITY   (United States)

^b GEORGETOWN UNIVERSITY HOSPITAL   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Attitudes; Colorectal cancer risk; Focus group; Genomics; Single nucleotide polymorphisms; Translational research

Indexed keywords

ADULT; AGED; ARTICLE; COLON TUMOR; CROSS-SECTIONAL STUDY; FEMALE; GENETICS; HUMAN; INFORMATION PROCESSING; MALE; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; COLONIC NEOPLASMS; CROSS-SECTIONAL STUDIES; FEMALE; FOCUS GROUPS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

MLCS; MLOWN;

EID: 84873059225     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-012-9530-x     Document Type: Conference Paper

References (62)

1. Audrain, J., Boyd, N. R., Roth, J., Main, D., Caporaso, N. F., & Lerman, C. (1997). Genetic susceptibility testing in smoking-cessation treatment: one-year outcomes of a randomized trial. Addictive Behaviors, 22(6), 741-751.
2. Battista, R. N., Blancquaert, I., Laberge, A. M., van Schendel, N., & Leduc, N. (2012). Genetics in health care: an overview of current and emerging models. Public Health Genomics, 15(1), 34-45.
3. Biankin, A. V., & Chanock, S. J. (2011). The road ahead: less travelled and more arduous than initially envisioned. Human Genetics, 130(1), 1-2.
4. Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genomewide profiling to assess disease risk. The New England Journal of Medicine, 364(6), 524-534.
5. Borry, P., Cornel, M. C., & Howard, H. C. (2010). Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market. Journal of Community Genetics, 1(3), 101-106.
6. Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77-101.
7. Burke, W. (2004). Genetic testing in primary care. Annual Reviews Genomics and Human Genetics, 5, 1-14.
8. Burke, W., & Psaty, B. M. (2007). Personalized medicine in the era of genomics. JAMA, 298(14), 1682-1684.
9. Carpenter, M. J., Strange, C., Jones, Y., Dickson, M. R., Carter, C., Moseley, M. A., et al. (2007). Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Annals of Behavioral Medicine, 33(1), 22-28.
10. Chanock, S. J. (2011). The heritable component of cancer: insights from genome-wide association studies and beyond. Opening Plenary Session: The Future of Cancer Research: Challenges and Opportunities. American Association of Cancer Research (AACR) 102nd Annual Meeting, April 3, 2011, Orlando, FL. http://webcast.aacr.org/console/player/14274?mediaType=podiumVideo. Accessed 5 September 2011.
11. Cheng, T. L., Cohn, R. D., & Dover, G. J. (2008). The genetics revolution and primary care pediatrics. JAMA, 299(4), 451-453.
12. Cherkas, L. F., Harris, J. M., Levinson, E., Spector, T. D., & Prainsack, B. (2010). A survey of UK public interest in internet-based personal genome testing. PLoS One, 5(10), e13473.
13. Edwards, A., Elwyn, G., Hood, K., Atwell, C., Robling, M., Houston, H., et al. (2004). Patient-based outcome results from a cluster randomized trial of shared decision making skill development and use of risk communication aids in general practice. Family Practice, 21(4), 347-354.
14. Epstein, C. J. (2004). Genetic testing: hope or hype? Genetics in Medicine, 6(4), 165-172.
15. Ertmanski, S., Metcalfe, K., Trempala, J., Glowacka, M. D., Lubinski, J., Narod, S. A., et al. (2009). Identification of patients at high risk of psychological distress after BRCA1 genetic testing. Genetic Testing and Molecular Biomarkers, 13(3), 325-330.
16. Evans, J. P., Burke, W., & Khoury, M. (2010). The rules remain the same for genomic medicine: the case against reverse genetic exceptionalism. Genetics in Medicine, 12(6), 342-343.
17. Facio, F. M., Brooks, S., Loewenstein, J., Green, S., Biesecker, L. G., & Biesecker, B. B. (2011). Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. European Journal of Human Genetics, 19(12), 1213-1217. doi: 10.1038/ejhg.2011.123.
18. Giacomini, M. K., & Cook, D. J. (2000). Users' guides to the medical literature: XXIII. Qualitative research in health care A. Are the results of the study valid? Evidence-Based Medicine Working Group. JAMA, 284(3), 357-362.
19. Goodwin, K. (2008). Information overload? As genetic testing kits sold directly to consumers gain popularity, medical professionals and lawmakers wonder if more regulation is needed. State Legislatures, 34(8), 30-33.
20. Graves, K. D., Peshkin, B. N., Luta, G., Tuong, W., & Schwartz, M. D. (2011). Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics, 14(3), 178-189.
21. Graves, K. D., Vegella, P., Poggi, E. A., Peshkin, B. N., Tong, A., Isaacs, C., et al. (2012). Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice. Cancer Epidemiology, Biomarkers & Prevention, 21(3), 445-455.
22. Green, E. D., Guyer, M. S., & National Human Genome Research Institute. (2011). Charting a course for genomic medicine from base pairs to bedside. Nature, 470(7333), 204-213.
23. Haga, S. B., Khoury, M. J., & Burke, W. (2003). Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nature Genetics, 34(4), 347-350.
24. Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C., et al. (2005). Men's decision-making about predictive BRCA1/2 testing: the role of family. Journal of Genetic Counseling, 14(3), 207-217.
25. Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., et al. (2009). Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences of the United States of America, 106(23), 9362-9367.
26. Hunter, D. J., Altshuler, D., & Rader, D. J. (2008). From Darwin's finches to canaries in the coal mine-mining the genome for new biology. The New England Journal of Medicine, 358(26), 2760-2763.
27. Institute of Medicine. (2005). Implications of Genomics for Public Health: Workshop Summary. Washington: The National Academies Press.
28. Institute of Medicine. (2011). Generating Evidence for Genomic Diagnostic Test Development: Workshop Summary. Washington: The National Academies Press.
29. Ito, H., Matsuo, K., Wakai, K., Saito, T., Kumimoto, H., Okuma, K., et al. (2006). An intervention study of smoking cessation with feedback on genetic cancer susceptibility in Japan. Preventive Medicine, 42(2), 102-108.
30. Kaufman, D. J., Bollinger, J. M., Dvoskin, R. L., & Scott, J. A. (2012). Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. Journal of Genetic Counseling. doi: 10.1007/s10897-012-9483-0.
31. Khoury, M. J., & Mensah, G. A. (2005). Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action. Preventing Chronic Disease, 2(2), A05.
32. Khoury, M. J., McBride, C. M., Schully, S. D., Ioannidis, J. P., Feero, W. G., Janssens, A. C., et al. (2009). The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine, 11(8), 559-567.
33. Klitzman, R. L. (2010). Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling, 19(5), 430-446.
34. Kolor, K., Liu, T., St Pierre, J., & Khoury, M. J. (2009). Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genetics in Medicine, 11(8), 595.
35. Kraft, P., Wacholder, S., Cornelis, M. C., Hu, F. B., Hayes, R. B., Thomas, G., et al. (2009). Beyond odds ratios-communicating disease risk based on genetic profiles. Nature Reviews. Genetics, 10(4), 264-269.
36. Lerman, C., Gold, K., Audrain, J., Lin, T. H., Boyd, N. R., Orleans, C. T., et al. (1997). Incorporating biomarkers of exposure and genetic susceptibility into smoking cessation treatment: effects on smoking-related cognitions, emotions, and behavior change. Health Psychology, 16(1), 87-99.
37. Lunshof, J. E., Pirmohamed, M., & Gurwitz, D. (2006). Personalized medicine: decades away? Pharmacogenomics, 7(2), 237-241.
38. McBride, C. M., Bepler, G., Lipkus, I. M., Lyna, P., Samsa, G., Albright, J., et al. (2002). Incorporating genetic susceptibility feedback into a smoking cessation program for African-American smokers with low income. Cancer Epidemiology, Biomarkers & Prevention, 11(6), 521-528.
39. McBride, C. M., Bowen, D., Brody, L. C., Condit, C. M., Croyle, R. T., Gwinn, M., et al. (2010). Future health applications of genomics: priorities for communication, behavioral, and social sciences research. American Journal of Preventive Medicine, 38(5), 556-565.
40. McGuire, A. L., Diaz, C. M., Wang, T., & Hilsenbeck, S. G. (2009). Social networkers' attitudes toward direct-to-consumer personal genome testing. The American Journal of Bioethics, 9(6-7), 3-10.
41. Michie, S., Dormandy, E., & Marteau, T. M. (2003). Informed choice: understanding knowledge in the context of screening uptake. Patient Education and Counseling, 50(3), 247-253.
42. Miller, S. M. (1987). Monitoring and blunting: validation of a questionnaire to assess styles of information seeking under threat. Journal of Personality and Social Psychology, 52(2), 345-353.
43. Morgan, D. L. (1998). The focus group guidebook: Focus group kit 1. Thousand Oaks: Sage.
44. Myers, R. E., Manne, S. L., Wilfond, B., Sifri, R., Ziring, B., Wolf, T. A., et al. (2011). A randomized trial of genetic and environmental risk assessment (GERA) for colorectal cancer risk in primary care: trial design and baseline findings. Contemporary Clinical Trials, 32(1), 25-31.
45. Neumann, P. J., Cohen, J. T., Hammitt, J. K., Concannon, T. W., Auerbach, H. R., Fang, C., et al. (2012). Willingness-to-pay for predictive tests with no immediate treatment implications: a survey of US residents. Health Economics, 21(3), 238-251. doi: 10.1002/hec.1704.
46. Norrgard, K. (2008). Genetic variation and disease: GWAS. Nature Education, 1(1).
47. O'Connor, A. M., & O'Brien-Pallas, L. L. (1989). Decisional conflict. In G. K. McFarland & E. A. Mcfarlane (Eds.), Nursing diagnosis and intervention: Planning for patient care (pp. 486-496). Toronto: Mosby.
48. O'Connor, A. M., Tugwell, P., Wells, G. A., Elmslie, T., Jolly, E., Hollingworth, G., et al. (1998). A decision aid for women considering hormone therapy after menopause: decision support framework and evaluation. Patient Education and Counseling, 33(3), 267-279.
49. O'Daniel, J. M. (2010). The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors. Journal of Genetic Counseling, 19(4), 315-327.
50. Pagon, R. A. (2002). Genetic testing for disease susceptibilities: consequences for genetic counseling. Trends in Molecular Medicine, 8(6), 306-307.
51. Papp, K. K., Stoller, E. P., Sage, P., Aikens, J. E., Owens, J., Avidan, A., et al. (2004). The effects of sleep loss and fatigue on resident-physicians: a multi-institutional, mixed-method study. Academic Medicine, 79(5), 394-406.
52. Peshkin, B. N., DeMarco, T. A., Brogan, B. M., Lerman, C., & Isaacs, C. (2001). BRCA1/2 testing: complex themes in result interpretation. Journal of Clinical Oncology, 19(9), 2555-2565.
53. Pope, C., & Mays, N. (1995). Reaching the parts other methods cannot reach: an introduction to qualitative methods in health and health services research. BMJ, 311(6996), 42-45.
54. Rafi, I., Qureshi, N., Lucassen, A., Modell, M., Elmslie, F., Kai, J., et al. (2009). 'Over-the-counter' genetic testing: what does it really mean for primary care? The British Journal of General Practice, 59(561), 283-287.
55. Robson, M. E., Storm, C. D., Weitzel, J., Wollins, D. S., Offit, K., & American Society of Clinical Oncology. (2010). American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28(5), 893-901.
56. Rogers, E. M. (2003). Diffusion of innovations (5th ed.). New York: Free.
57. Rose, A. L., Peters, N., Shea, J. A., & Armstrong, K. (2005). Attitudes and misconceptions about predictive genetic testing for cancer risk. Community Genetics, 8(3), 145-151.
58. Sandelowski, M. (2000). Combining qualitative and quantitative sampling, data collection, and analysis techniques in mixed-method studies. Research in Nursing & Health, 23(3), 246-255.
59. Sanderson, S. C., O'Neill, S. C., Bastian, L. A., Bepler, G., & McBride, C. M. (2010). What can interest tell us about uptake of genetic testing? Intention and behavior amongst smokers related to patients with lung cancer. Public Health Genomics, 13(2), 116-124.
60. Schwartz, M. D., Peshkin, B. N., Hughes, C., Main, D., Isaacs, C., & Lerman, C. (2002). Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. Journal of Clinical Oncology, 20(2), 514-520.
61. Schwartz, M. D., Lerman, C., Brogan, B., Peshkin, B. N., Halbert, C. H., DeMarco, T., et al. (2004). Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. Journal of Clinical Oncology, 22(10), 1823-1829.
62. Sulmasy, D. P., Astrow, A. B., He, M. K., Seils, D. M., Meropol, N. J., Micco, E., et al. (2010). The culture of faith and hope: patients' justifications for their high estimations of expected therapeutic benefit when enrolling in early phase oncology trials. Cancer, 116(15), 3702-3711.