Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population

Cancer Prevention Research

Volumn 4, Issue 1, 2011, Pages 9-22

  Dinh, Tuan A ^a   Rosner, Benjamin I ^a   Atwood, James C ^a   Boland, C Richard ^b   Syngal, Sapna ^c   Vasen, Hans F A ^d   Gruber, Stephen B ^e   Burt, Randall W ^f  

^a Archimedes Inc   (United States)

^b BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF MICHIGAN   (United States)

^f UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER SCREENING; COLORECTAL CANCER; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; ENDOMETRIUM CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; HEALTH INSURANCE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MISMATCH REPAIR; MUTATION; OUTCOME ASSESSMENT; PATIENT COMPLIANCE; POPULATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; QUALITY ADJUSTED LIFE YEAR; RISK ASSESSMENT; RISK FACTOR; SIMULATION; UTERINE CERVIX CANCER;

ADULT; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; COST-BENEFIT ANALYSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC TESTING; HUMANS; INCIDENCE; MICHIGAN; MUTATION; NEOPLASM PROTEINS; QUALITY-ADJUSTED LIFE YEARS; RISK ASSESSMENT; STANDARD OF CARE;

EID: 78650801916     PISSN: 19406207     EISSN: 19406215     Source Type: Journal    
DOI: 10.1158/1940-6207.CAPR-10-0262     Document Type: Article

References (82)

1. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009;11:42-65.
2. Meyer LA, Broaddus RR, Lu KH. Endometrial cancer and Lynch syndrome: clinical and pathologic considerations. Cancer Control 2009;16:14-22.
3. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;110: 1020-7.
4. Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006;296:1479-87.
5. Singh H, Schiesser R, Anand G, Richardson PA, El-Serag HB. Underdiagnosis of Lynch syndrome involves more than family history criteria. Clin Gastroenterol Hepatol 2010;8:523-9.
6. Grover S, Stoffel EM, Bussone L, Tschoegl E, Syngal S. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2004;2:813-9. (Pubitemid 39200720)
7. Renkonen-Sinisalo L, Aarnio M, Mecklin JP, Jarvinen HJ. Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 2000;24:137-42.
8. Jarvinen HJ, Aarnio M, Mustonen H, Aktan-Collan K, Aaltonen LA, Peltomaki P, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34. (Pubitemid 30243745)
9. Schmeler KM, Lynch HT, Chen LM, Munsell MF, Soliman PT, Clark MB, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354:261-9.
10. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 2003;21:2397-406.
11. Nelson HD, Huffman LH, Fu R, Harris EL. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med 2005;143:362-79.
12. National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology.Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer. 2010. Available from: www.nccn.org/professionals/physician-gls/PDF/genetics- screening.pdf. Accessed August 10, 2010.
13. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010;28:893-901.
14. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007;44:353-62.
15. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009;11:35-41.
16. Lynch PM. Standards of care in diagnosis and testing for hereditary colon cancer. Fam Cancer 2008;7:65-72.
17. Balmana J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006;296:1469-78.
18. Schlessinger L, Eddy DM. Archimedes: a new model for simulating health care systems-the mathematical formulation. J Biomed Inform 2002;35:37-50. (Pubitemid 35216430)
19. Kahn R, Alperin P, Eddy D, Borch-Johnsen K, Buse J, Feigelman J, et al. Age at initiation and frequency of screening to detect type 2 diabetes: a cost-effectiveness analysis. Lancet 2010;375:1365-74.
20. Surveillance Epidemiology and End Results (SEER) Program Populations (1969-2006). NCI, DCCPS, Surveillance Research Program, Cancer Statistics Branch, released February 2009. Available from: www.seer.cancer.gov/popdata.
21. Clinical Outcomes Research Initiative. 2007. Available from: www.cori.org.
22. Lieberman DA, Weiss DG, Bond JH, Ahnen DJ, Garewal H, Chejfec G. Use of colonoscopy to screen asymptomatic adults for colorectal cancer. Veterans Affairs Cooperative Study Group 380. N Engl J Med 2000;343:162-8.
23. Eddy DM, Schlessinger L. Validation of the archimedes diabetes model. Diabetes Care 2003;26:3102-10.
24. Bajdik CD, Raboud JM, Schechter MT, McGillivray BC, Gallagher RP. A computer model to simulate family history of breast/ovarian cancer in BRCA1 mutation carriers. Math Biosci 2001;171:99-111.
25. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 2008;123:444-9.
26. Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, et al. The PREMM 1,2,6 model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2010 Epub ahead of print.
27. Ramsey SD, Yoon P, Moonesinghe R, Khoury MJ. Population-based study of the prevalence of family history of cancer: implications for cancer screening and prevention. Genet Med 2006;8:571-5.
28. Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Familial Cancer 2005;4:219-25. Accessed December 28 2009. www.stoet.nl.
29. Gross CP, McAvay GJ, Krumholz HM, Paltiel AD, Bhasin D, Tinetti ME. The effect of age and chronic illness on life expectancy after a diagnosis of colorectal cancer: implications for screening. Ann Intern Med 2006;145:646-53. (Pubitemid 46768839)
30. Siegel JE, Weinstein MC, Russell LB, Gold MR. Recommendations for reporting cost-effectiveness analyses. Panel on Cost-Effectiveness in Health and Medicine. JAMA 1996;276:1339-41.
31. Hirth RA, Chernew ME, Miller E, Fendrick AM, Weissert WG. Willingness to pay for a quality-adjusted life year: in search of a standard. Med Decis Making 2000;20:332-42.
32. Braithwaite RS, Meltzer DO, King JT, Jr., Leslie D, Roberts MS. What does the value of modern medicine say about the $50,000 per quality-adjusted life-year decision rule? Med Care 2008;46:349-56.
33. Burt RW, Barthel JS, Dunn KB, David DS, Drelichman E, Ford JM, et al. NCCN clinical practice guidelines in oncology. Colorectal cancer screening. J Natl Compr Canc Netw 2010;8:8-61.
34. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 2004;292:1480-9.
35. Mitchell RJ, Brewster D, Campbell H, Porteous ME, Wyllie AH, Bird CC, et al. Accuracy of reporting of family history of colorectal cancer. Gut 2004;53:291-5. (Pubitemid 38125521)
36. Burn J, Bishop DT, Mecklin JP, Macrae F, Moslein G, Olschwang S, et al. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 2008;359:2567-78.
37. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, Menko FH, Taal BG, Kleibeuker JH, et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 2002;45:1588-94.
38. Maciosek MV, Coffield AB, Edwards NM, Flottemesch TJ, Goodman MJ, Solberg LI. Priorities among effective clinical preventive services: results of a systematic review and analysis. Am J Prev Med 2006;31:52-61.
39. Sonnenberg A, Delco F, Inadomi JM. Cost-effectiveness of colonoscopy in screening for colorectal cancer. Ann Intern Med 2000;133: 573-84.
40. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-60.
41. Mecklin JP, Aarnio M, Laara E, Kairaluoma MV, Pylvanainen K, Peltomaki P, et al. Development of colorectal tumors in colonoscopic surveillance in Lynch syndrome. Gastroenterology 2007; 133: 1093-8. (Pubitemid 47494464)
42. Liljegren A, Barker G, Elliott F, Bertario L, Bisgaard ML, Eccles D, et al. Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2. J Clin Oncol 2008;26: 3434-9.
43. Lindgren G, Liljegren A, Jaramillo E, Rubio C, Lindblom A. Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 2002;50:228-34.
44. Rijcken FE, Hollema H, Kleibeuker JH. Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformation. Gut 2002;50:382-6.
45. de Jong AE, Morreau H, Van Puijenbroek M, Eilers PH, Wijnen J, Nagengast FM, et al. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology 2004;126:42-8. (Pubitemid 38040722)
46. Pino MS, Mino-Kenudson M, Wildemore BM, Ganguly A, Batten J, Sperduti I, et al. Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas. J Mol Diagn 2009;11: 238-47.
47. Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004;127:17-25.
48. Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, et al. Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet 2004;74:1262-9.
49. Dunlop MG, Farrington SM, Carothers AD, Wyllie AH, Sharp L, Burn J, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.
50. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet 2005;42: 491-6. (Pubitemid 40847237)
51. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, et al. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 2001; 38:318-22.
52. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-28.
53. Barrow E, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, et al. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 2008;74:233-42.
54. Stoffel E, Mukherjee B, Raymond VM, Tayob N, Kastrinos F, Sparr J, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch Syndrome. Gastroenterology 2009;137: 1621-7.
55. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-7.
56. Gryfe R, Kim H, Hsieh ET, Aronson MD, Holowaty EJ, Bull SB, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000;342:69-77. (Pubitemid 30036597)
57. Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-63.
58. Watson P, Lin KM, Rodriguez-Bigas MA, Smyrk T, Lemon S, Shashidharan M, et al. Colorectal carcinoma survival among hereditary nonpolyposis colorectal carcinoma family members. Cancer 1998;83:259-66. (Pubitemid 28317805)
59. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 1996;110:682-7.
60. Aarnio M, Mustonen H, Mecklin JP, Jarvinen HJ. Prognosis of colorectal cancer varies in different high-risk conditions. Ann Med 1998;30:75-80.
61. Lin KM, Shashidharan M, Thorson AG, Ternent CA, Blatchford GJ, Christensen MA, et al. Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 1998;2:67-71. (Pubitemid 128423466)
62. Mecklin JP, Jarvinen HJ. Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 1986;29:160-4.
63. Rodriguez-Bigas MA, Vasen HF, Pekka-Mecklin J, Myrhoj T, Rozen P, Bertario L, et al. Rectal cancer risk in hereditary nonpolyposis colorectal cancer after abdominal colectomy. International Collaborative Group on HNPCC. Ann Surg 1997;225:202-7.
64. Hampel H, Stephens JA, Pukkala E, Sankila R, Aaltonen LA, Mecklin JP, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. Gastroenterology 2005;129:415-21.
65. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-8. (Pubitemid 29144749)
66. Jenkins MA, Baglietto L, Dowty JG, Van Vliet CM, Smith L, Mead LJ, et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol 2006;4:489-98.
67. Schmeler KM, Lu KH. Gynecologic cancers associated with Lynch syndrome/HNPCC. Clin Transl Oncol 2008;10:313-7.
68. Boks DE, Trujillo AP, Voogd AC, Morreau H, Kenter GG, Vasen HF. Survival analysis of endometrial carcinoma associated with hereditary nonpolyposis colorectal cancer. Int J Cancer 2002;102:198-200.
69. Rex DK. Colonoscopy: a review of its yield for cancers and adenomas by indication. Am J Gastroenterol 1995;90:353-65.
70. Dijkhuizen FP, Mol BW, Brolmann HA, Heintz AP. The accuracy of endometrial sampling in the diagnosis of patients with endometrial carcinoma and hyperplasia: a meta-analysis. Cancer 2000;89: 1765-72.
71. Dove-Edwin I, Boks D, Goff S, Kenter GG, Carpenter R, Vasen HF, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 2002;94:1708-12.
72. Stoffel EM, Garber JE, Grover S, Russo L, Johnson J, Syngal S. Cancer surveillance is often inadequate in people at high risk for colorectal cancer. J Med Genet 2003;40:e54.
73. Wagner A, van Kessel I, Kriege MG, Tops CM, Wijnen JT, Vasen HF, et al. Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. Fam Cancer 2005;4:295-300. (Pubitemid 41795804)
74. Collins V, Meiser B, Gaff C, St John DJ, Halliday J. Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. Cancer 2005;104:273-81.
75. Ramsey SD, Burke W, Clarke L. An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med 2003;5:353-63.
76. Kwon JS, Sun CC, Peterson SK, White KG, Daniels MS, Boyd-Rogers SG, et al. Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome. Cancer 2008;113:326-35.
77. Zauber AG, Lansdorp-Vogelaar I, Wilschut J, Knudsen AB, van Ballegooijen M, Kuntz KM. Cost-effectiveness of DNA stool testing to screen for colorectal cancer: Report to Agency for Healthcare Research and Quality (AHRQ) and CMS from the Cancer Intervention and Surveillance Modeling Network (CISNET) for MISCAN and SimCRC Models. 2007.
78. Ness RM, Holmes AM, Klein R, Dittus R. Utility valuations for outcome states of colorectal cancer. Am J Gastroenterol 1999;94:1650-7.
79. Van Duijvendijk P, Slors JF, Taat CW, Oosterveld P, Sprangers MA, Obertop H, et al. Quality of life after total colectomy with ileorectal anastomosis or proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 2000;87:590-6.
80. Ara R, Brazier J. Deriving an algorithm to convert the eight mean SF-36 dimension scores into a mean EQ-5D preference-based score from published studies (where patient level data are not available). Value Health 2008;11:1131-43.
81. Gritz ER, Peterson SK, Vernon SW, Marani SK, Baile WF, Watts BG, et al. Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol 2005;23:1902-10.
82. 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 2010; 12;93-104.