Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Genetics in Medicine

Volumn 11, Issue 9, 2009, Pages 629-639

  Rubinstein, Wendy S ^a,b   Jiang, Hongmei ^a,b   Dellefave, Lisa ^c   Rademaker, Alfred W ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

BRCA1; BRCA2; Decision analysis; Ovarian carcinoma; Population based genetic screening

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; CANCER INCIDENCE; CANCER PREVENTION; CANCER SURVIVAL; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; OUTCOME ASSESSMENT; OVARY CARCINOMA; QUALITY ADJUSTED LIFE YEAR;

ADULT; BRCA1 PROTEIN; BRCA2 PROTEIN; COST-BENEFIT ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; JEWS; LIFE EXPECTANCY; MIDDLE AGED; OVARIAN NEOPLASMS;

EID: 70349665340     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181afd322     Document Type: Article

References (72)

1. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-646.
2. Peto J, Collins N, Barfoot R, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999;91:943-949.
3. de SS, Leone M, Berez V, et al. Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 2003;106:588-593.
4. Warlam-Rodenhuis CC, Koot VC, van der Luijt RB, Vasen HF, Ausems MG. A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. Eur J Cancer 2005;41:1409-1415.
5. Hopper JL, Southey MC, Dite GS, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev 1999;8:741-747.
6. Moller P, Hagen AI, Apold J, et al. Genetic epidemiology of BRCA mutations-family history detects less than 50% of the mutation carriers. Eur J Cancer 2007;43:1713-1717.
7. Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst 2001;93:1215-1223.
8. Lubinski J, Gorski B, Huzarski T, et al. BRCA1-positive breast cancers in young women from Poland. Breast Cancer Res Treat 2006;99:71-76. (Pubitemid 44168605)
9. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005; 104:2807-2816.
10. Goodman MT, Correa CN, Tung KH, et al. Stage at diagnosis of ovarian cancer in the United States, 1992-1997. Cancer 2003;97(suppl 10):2648-2659.
11. Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201-211.
12. 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.
13. U.S. Census Bureau. 2008. Available at: www.census.gov. Accessed December 24, 2008.
14. Singer D, Grossman L, editors. American Jewish Year Book 2004. New York: American Jewish Committee, 2005.
15. National Jewish Population Survey 2000-2001. Strength, challenge and diversity in the American Jewish population. United Jewish Communities, 2008. Available at: www.ujc.org. Accessed December 24, 2008.
16. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-187.
17. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-1408.
18. Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 1999;64:963-970
19. Struewing JP, Abeliovich D, Peretz T, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200.
20. Rebbeck TR, Friebel T, Wagner T, et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2005;23:7804-7810.
21. Finch A, Beiner M, Lubinski J, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 2006;296:185-192.
22. Kauff ND, Satagopan JM, Robson ME, et al. Risk-reducing salpingooophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002;346:1609-1615.
23. Friebel TM, Domchek SM, Neuhausen SL, et al. Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. Clin Breast Cancer 2007;7:875-882.
24. Bradbury AR, Ibe CN, Dignam JJ, et al. Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers. Genet Med 2008;10:161-166.
25. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616-1622.
26. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2002;94:1221-1226.
27. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007;25:1329-1333.
28. Edwards BK, Brown ML, Wingo PA, et al. Annual report to the nation on the status of cancer, 1975-2002, featuring population-based trends in cancer treatment. J Natl Cancer Inst 2005;97:1407-1427.
29. Richards CS, Ward PA, Roa BB, et al. Screening for 185delAG in the Ashkenazim. Am J Hum Genet 1997;60:1085-1098.
30. Boyd J, Sonoda Y, Federici MG, et al. Clinicopathologic features of BRCAlinked and sporadic ovarian cancer. JAMA 2000;283:2260-2265.
31. Arias E. United States Life Tables, 2003. National Vital Statistics Reports 54-14-. Hyattsville, MD, 2006:1-40.
32. Anderson K, Jacobson JS, Heitjan DF, et al. Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med 2006;144:397-406.
33. Pal T, Permuth-Wey J, Kapoor R, Cantor A, Sutphen R. Improved survival in BRCA2 carriers with ovarian cancer. Fam Cancer 2007;6:113-119.
34. Byrd LM, Shenton A, Maher ER, et al. Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer. Cancer Epidemiol Biomarkers Prev 2008;17:1535-1542.
35. SEER 2004. Survival rates for the year 1994 of diagnosis. Surveillance epidemiology and end results (SEER), 2008. Available at: www.seer.cancer. gov/csr/1975-2005/. Accessed December 24, 2008.
36. Cummings P, Rivara FP, Olson CM, Smith KM. Changes in traffic crash mortality rates attributed to use of alcohol, or lack of a seat belt, air bag, motorcycle helmet, or bicycle helmet, United States, 1982-2001. Inj Prev 2006;12:148-154.
37. Neumann PJ, Rosen AB, Weinstein MC. Medicare and cost-effectiveness analysis. N Engl J Med 2005;353:1516-1522.
38. Tabar L, Vitak B, Yen MF, Chen HH, Smith RA, Duffy SW. Number needed to screen: lives saved over 20 years of follow-up in mammographic screening. J Med Screen 2004;11:126-129.
39. Holland ML, Huston A, Noyes K. Cost-effectiveness of testing for breast cancer susceptibility genes. Value Health 2009;12:207-216.
40. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159(suppl 3):S192-S195.
41. Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE. Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol 2008;26:5393-5400.
42. Grann VR, Panageas KS, Whang W, Antman KH, Neugut AI. Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients. J Clin Oncol 1998;16:979-985.
43. Grann VR, Jacobson JS, Whang W, et al. Prevention with tamoxifen or other hormones versus prophylactic surgery in BRCA1/2-positive women: a decision analysis. Cancer J Sci Am 2000;6:13-20.
44. Cella DF, Pratt A, Holland JC. Persistent anticipatory nausea, vomiting, and anxiety in cured Hodgkin's disease patients after completion of chemotherapy. Am J Psychiatry 1986;143:641-643.
45. Grann VR, Whang W, Jacobson JS, Heitjan DF, Antman KH, Neugut AI. Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. J Clin Oncol 1999;17:494-500.
46. Reynolds T. NCI-Myriad agreement offers BRCA testing at reduced cost. J Natl Cancer Inst 2000;92:596.
47. von BA. Next-generation sequencing: the race is on. Cell 2008;132:721-723.
48. Struewing JP, Lerman C, Kase RG, Giambarresi TR, Tucker MA. Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol Biomarkers Prev 1995;4:169-173.
49. Rubinstein WS. Hereditary breast cancer in Jews. Fam Cancer 2004;3:249-257.
50. Bennett CL, Golub RM, Calhoun EA, et al. Cost-utility assessment of amifostine as first-line therapy for ovarian cancer. Int J Gynecol Cancer 1998;8:64-72.
51. Grann VR, Jacobson JS, Sundararajan V, Albert SM, Troxel AB, Neugut AI. The quality of life associated with prophylactic treatments for women with BRCA1/2 mutations. Cancer J Sci Am 1999;5:283-292.
52. Madalinska JB, Hollenstein J, Bleiker E, et al. Quality-of-life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer. J Clin Oncol 2005; 23:6890-6898.
53. Madalinska JB, van BM, Bleiker EM, et al. The impact of hormone replacement therapy on menopausal symptoms in younger high-risk women after prophylactic salpingo-oophorectomy. J Clin Oncol 2006;24:3576-3582.
54. Armstrong K, Schwartz JS, Randall T, Rubin SC, Weber B. Hormone replacement therapy and life expectancy after prophylactic oophorectomy in women with BRCA1/2 mutations: a decision analysis. J Clin Oncol 2004; 22:1045-1054. (Pubitemid 41095037)
55. Eisen A, Lubinski J, Gronwald J, et al. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 2008;100: 1361-1367.
56. Rubinstein WS. Surgical management of BRCA1 and BRCA2 carriers: bitter choices slightly sweetened. J Clin Oncol 2005;23:7772-7774.
57. Schrag D, Kuntz KM, Garber JE, Weeks JC. Decision analysis- effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations-published erratum appears in N Engl J Med 1997;337:434
58. N Engl J Med 1997;336:1465-1471.
59. Tengs TO, Winer EP, Paddock S, Aguilar-Chavez O, Berry DA. Testing for the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes: a decision analysis. Med Decis Making 1998;18:365-375.
60. Grann VR, Jacobson JS, Thomason D, Hershman D, Heitjan DF, Neugut AI. Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis. J Clin Oncol 2002;20:2520-2529.
61. van Roosmalen MS, Verhoef LC, Stalmeier PF, Hoogerbrugge N, Van Daal WA. Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy. J Clin Oncol 2002;20:2092-2100.
62. Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007;57:75-89. (Pubitemid 46535708)
63. Yu J, Park A, Morris E, et al. MRI screening in a clinic population with a family history of breast cancer. Ann Surg Oncol 2008;15:452-461.
64. Plevritis SK, Kurian AW, Sigal BM, et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA 2006;295:2374-2384.
65. O'Neill SM, Rubinstein WS, Sener SF, et al. Psychological impact of recall in high-risk breast MRI screening. Breast Cancer Res Treat 2009;115:365-371.
66. Rebbeck TR, Levin AM, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 1999;91:1475-1479.
67. Jewish Genetic Disease Consortium, 2008. Available at: jewishgeneticdiseases. org. Accessed December 24, 2008.
68. Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-1490.
69. Kauff ND, Perez-Segura P, Robson ME, et al. Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet 2002;39:611-614.
70. Brandt-Rauf SI, Raveis VH, Drummond NF, Conte JA, Rothman SM. Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease. Am J Public Health 2006;96:1979-1988.
71. Matloff E, Caplan A. Direct to confusion: lessons learned from marketing BRCA testing. Am J Bioeth 2008;8:5-8.
72. Baruch S, Hudson K. Civilian and military genetics: nondiscrimination policy in a post-GINA world. Am J Hum Genet 2008;83:435-444.