Counterpoint: Implementing population genetic screening for lynch syndrome among newly diagnosed colorectal cancer patients - Will the ends justify the means?

JNCCN Journal of the National Comprehensive Cancer Network

Volumn 8, Issue 5, 2010, Pages 606-611

  Hall, Michael J ^a  

^a FOX CHASE CANCER CENTER   (United States)

Author keywords

Colorectal cancer; Immunohistochemistry; Microsatellite instability; Mismatch repair; MMR; MSI; Screening

Indexed keywords

B RAF KINASE; EPIDERMAL GROWTH FACTOR RECEPTOR 2; FLUOROURACIL; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

AGED; ARTICLE; CANCER CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER PATIENT; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER SURGERY; CLINICAL EFFECTIVENESS; COLONOSCOPY; COLORECTAL CANCER; COPING BEHAVIOR; DNA DETERMINATION; FAMILIAL CANCER; FEASIBILITY STUDY; FINANCIAL MANAGEMENT; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC PRIVACY; GENETIC RISK; GENETIC SCREENING; GENOMICS; HEALTH CARE ACCESS; HEALTH CARE COST; HEALTH CARE NEED; HEALTH CARE POLICY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNOHISTOCHEMISTRY; INFORMED CONSENT; LEGAL ASPECT; MICROSATELLITE INSTABILITY; MIDDLE AGED; PROGNOSIS; SOCIAL ASPECT; SOCIAL PSYCHOLOGY; UNITED STATES;

EID: 77953006470     PISSN: 15401405     EISSN: 15401413     Source Type: Journal    
DOI: 10.6004/jnccn.2010.0045     Document Type: Article

References (26)

1. Burt RW, Barthel JS, Dunn KB, et al. NCCN clinical practice guidelines in oncology: colorectal cancer screening, version 1, 2010. Available at: http://www.nccn.org/professionals/physician- gls/PDF/colorectal-screening.pdf Accessed December 1, 2009.
2. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-425.
3. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary non-polyposis colorectal cancer (Lynch Syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268. (Pubitemid 38256271)
4. Guttmacher AE, Collins FS, Carmona RH. The family history - more important than ever. N Engl J Med 2004;351:2333-2336.
5. Newcomb PA, Baron J, Cotterchio M, et al. Colon cancer family registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007;16:2331-2343.
6. Palomaki GE, McClain MR, Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009;11:42-65.
7. EGAPP Working Group. Recommendations from the EGAPP working group: genetic testing strategies in newly diagnosis individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009;11:35-41.
8. Agency for Healthcare Research and Quality. Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. Available at: http://www.ahrq.gov/clinic/tp/hnpcctp. htm. Accessed November 20, 2009.
9. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-5788.
10. Ramsey SD, Clarke L, Etzioni R, et al. Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary non-polyposis colorectal cancer. Ann Intern Med 2001;135:577-588.
11. Mvundura M, Palomaki GE, McClain MR, et al. Cost effectiveness of genetic testing for Lynch syndrome among newly diagnosed colorectal cancer patients and their first-degree relatives [abstract]. Presented at the 30th Annual Meeting of the Society for Medical Decision Making; October 19, 2008; Philadelphia, PA.
12. American Society of Clinical Oncology Policy Statement Update: genetic testing for cancer susceptibility. J Clin Oncol 2003;21:2397-2406.
13. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary non-polyposis colorectal cancer). N Engl J Med 2005;352:1851-1860.
14. Parrott S, Del Vecchio M. National Society of Genetic Counselors, Inc.: Professional Status Survey 2006. Available at: http://www. nsgc.org. Accessed April 28, 2009.
15. Manne SL, Chung DC, Weinberg DS, et al. Knowledge and attitudes about microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. Cancer Epidemiol Biomarkers Prev 2007;16:2110-2117.
16. Ormand KE, Banuvar S, Daly A, et al. Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening. Patient Educ Couns 2009;75:244-250.
17. Sargent DJ, Marsoni S, Thibodeau SN, et al. Confirmation of deficient mismatch repair (dMMR) as a predictive marker for lack of benefit from 5-FU based chemotherapy in stage II and III colon cancer (CC): a pooled molecular reanalysis of randomized chemotherapy trials [abstract]. J Clin Oncol 2009;26(Suppl 1):Abstract 4008.
18. Burgess MM. Beyond consent: ethical and social issues in genetic testing. Nat Rev Genet 2001;2:147-151.
19. Jemal A, Siegel R, Ward E, et al. Cancer Statistics 2009. CA Cancer J Clin 2009;4:225-249.
20. Graver S, Stoffel EM, Mercado RC, et al. Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol 2009;27:3981-3986.
21. Stitzenberg KB, Sigurdsen ER, Egleston BL, et al. Centralization of cancer surgery: implications for patient access to optimal care. J Clin Oncol 2009;27:4671-4678.
22. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-834.
23. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-1 criteria families without mismatch repair deficiency: familial colorectal cancer X. JAMA 2005;293:1979-1985. (Pubitemid 40570891)
24. Peters N, Domchek SM, Rose A, et al. Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer. Genet Test 2009;9:48-53. (Pubitemid 40586430)
25. Levy DE, Garber JE, Shields AE. Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med 2009;24:822-828.
26. Lerman C, Hughes C, Croyle RT, et al. Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med 2000;31:75-80. (Pubitemid 30471180)