When is a genetic test suitable for prime time? predicting the risk of prostate cancer as a case-example

Public Health Genomics

Volumn 13, Issue 1, 2009, Pages 55-62

  Li Wan Po, A ^a   Farndon, P ^a   Cooley, C ^a   Lithgow, J ^a  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

Clinical validity; Gene expression signature; Pharmacogenetics; Test validation; Translational research

Indexed keywords

PROSTATE SPECIFIC ANTIGEN;

CANCER INCIDENCE; CANCER RISK; DEVELOPED COUNTRY; ETHNICITY; FAMILY HISTORY; FOLLOW UP; GENETIC ANALYSIS; GENOTYPE; HUMAN; PRIORITY JOURNAL; PROSTATE CANCER; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSTATIC NEOPLASMS; RISK FACTORS; TUMOR MARKERS, BIOLOGICAL;

EID: 77951095967     PISSN: 16624246     EISSN: None     Source Type: Journal    
DOI: 10.1159/000218710     Document Type: Review

References (47)

1. Burke W, Zimmern RL: Ensuring the appropriate use of genetic tests. Nat Rev Genet 2004; 5: 955-959.
2. Lilja H, Ulmert D, Bjork T, Becker C, Serio AM, Nilsson JA, Abrahamsson PA, Vickers AJ, Berglund G: Long-term prediction of prostate cancer up to 25 years before diagnosis of prostate cancer using prostate kallikreins measured at age 44 to 50 years. J Clin Oncol 2007; 25: 431-436.
3. Ulmert D, Serio AM, O'Brien MF, Becker C, Eastham JA, Scardino PT, Bjork T, Berglund G, Vickers AJ, Lilja H: Long-term prediction of prostate cancer: prostate-specific antigen (PSA) velocity is predictive but does not improve the predictive accuracy of a single PSA measurement 15 years or more before cancer diagnosis in a large, representative, unscreened population. J Clin Oncol 2008; 26: 835-841.
4. Gronberg H: Prostate cancer epidemiology. Lancet 2003; 361: 859-864.
5. Thompson IM, Pauler DK, Goodman PJ, Tangen CM, Lucia MS, Parnes HL, Minasian LM, Ford LG, Lippman SM, Crawford ED, Crowley JJ, Coltman CA Jr: Prevalence of prostate cancer among men with a prostate- specific antigen level ! or = 4.0 ng per milliliter. N Engl J Med 2004; 350: 2239-2246.
6. Canby-Hagino E, Hernandez J, Brand TC, Troyer DA, Higgins B, Ankerst DP, Thompson IM, Leach RJ, Parekh DJ: Prostate cancer risk with positive family history, normal prostate examination findings, and PSA less than 4.0 ng/ml. Urology 2007; 70: 748-752.
7. Ruckle HC, Klee GG, Oesterling JE: Prostate- specific antigen: concepts for staging prostate cancer and monitoring response to therapy. Mayo Clin Proc 1994; 69: 69-79.
8. U.S. Preventive Services Task Force: Screening for prostate cancer: recommendation and rationale. Ann Intern Med 2002; 137: 915-916.
9. Weir HK, Thun MJ, Hankey BF, Ries LA, Howe HL, Wingo PA, Jemal A, Ward E, Anderson RN, Edwards BK: Annual report to the nation on the status of cancer, 1975- 2000, featuring the uses of surveillance data for cancer prevention and control. J Natl Cancer Inst 2003; 95: 1276-1299.
10. Sirovich BE, Schwartz LM, Woloshin S: Screening men for prostate and colorectal cancer in the United States: does practice reflect the evidence? JAMA 2003; 289: 1414-1420.
11. Catalona WJ, Loeb S, Han M: Viewpoint: expanding prostate cancer screening. Ann Intern Med 2006; 144: 441-443.
12. Hoffman RM: Viewpoint: limiting prostate cancer screening. Ann Intern Med 2006; 144: 438-440.
13. Barry MJ: The PSA Conundrum. Arch Intern Med 2006; 166: 7-8.
14. Yao SL, Lu-Yao G: Understanding and appreciating overdiagnosis in the PSA era. J Natl Cancer Inst 2002; 94: 958-960.
15. Rosner W: Proscar and propecia - a therapeutic perspective. J Clin Endocrinol Metab 2004; 89: 3096-3098.
16. Haiman CA, Patterson N, Freedman ML, Myers SR, Pike MC, Waliszewska A, Neubauer J, Tandon A, Schirmer C, McDonald GJ, Greenway SC, Stram DO, Le Marchand L, Kolonel LN, Frasco M, Wong D, Pooler LC, Ardlie K, Oakley-Girvan I, Whittemore AS, Cooney KA, John EM, Ingles SA, Altshuler D, Henderson BE, Reich D: Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet 2007; 39: 638-644.
17. Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft P, Wacholder S, Minichiello MJ, Fearnhead P, Yu K, Chatterjee N, Wang Z, Welch R, Staats BJ, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Gelmann EP, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hunter DJ, Chanock SJ, Thomas G: Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet 2007; 39: 645-649. (Pubitemid 46676108)
18. Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A, Rafnar T, Bergthorsson JT, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Xu J, Blondal T, Kostic J, Sun J, Ghosh S, Stacey SN, Mouy M, Saemundsdottir J, Backman VM, Kristjansson K, Tres A, Partin AW, Albers-Akkers MT, Godino-Ivan Marcos J, Walsh PC, Swinkels DW, Navarrete S, Isaacs SD, Aben KK, Graif T, Cashy J, Ruiz-Echarri M, Wiley KE, Suarez BK, Witjes JA, Frigge M, Ober C, Jonsson E, Einarsson GV, Mayordomo JI, Kiemeney LA, Isaacs WB, Catalona WJ, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K: Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007; 39: 631-637.
19. Zheng SL, Sun J, Cheng Y, Li G, Hsu FC, Zhu Y, Chang BL, Liu W, Kim JW, Turner AR, Gielzak M, Yan G, Isaacs SD, Wiley KE, Sauvageot J, Chen HS, Gurganus R, Mangold LA, Trock BJ, Gronberg H, Duggan D, Carpten JD, Partin AW, Walsh PC, Xu J, Isaacs WB: Association between two unlinked loci at 8q24 and prostate cancer risk among European Americans. J Natl Cancer Inst 2007; 99: 1525-1533.
20. Zheng SL, Sun J, Wiklund F, Smith S, Stattin P, Li G, Adami HO, Hsu FC, Zhu Y, Balter K, Kader AK, Turner AR, Liu W, Bleecker ER, Meyers DA, Duggan D, Carpten JD, Chang BL, Isaacs WB, Xu J, Gronberg H: Cumulative association of five genetic variants with prostate cancer. N Engl J Med 2008; 358: 910-919.
21. Sun J, Chang BL, Isaacs SD, Wiley KE, Wiklund F, Stattin P, Duggan D, Carpten JD, Trock BJ, Partin AW, Walsh PC, Gronberg H, Xu J, Isaacs WB, Zheng SL: Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations. Prostate 2008; 68: 1257-1262.
22. Gelmann EP: Complexities of prostate-cancer risk. N Engl J Med 2008; 358: 961-963.
23. Kolata G: $300 to learn the risk of cancer of the prostate. New York Times 2008, January 17.
24. Coates RJ, Khoury MJ, Gwinn M: Five genetic variants associated with prostate cancer. N Engl J Med 2008; 358: 2738.
25. Janssens AC, Van Duijn CM: Five genetic variants associated with prostate cancer (Letter). N Engl J Med 2008; 358: 2739.
26. Gartner CE, Barendregt JJ, Hall WD: Five genetic variants associated with prostate cancer (Letter). N Engl J Med 2008; 358: 2738-2739.
27. Thorat MA: Five genetic variants associated with prostate cancer (Letter). N Engl J Med 2008; 358: 2740.
28. Eisinger F: Five genetic variants associated with prostate cancer (Letter). N Engl J Med 2008; 358: 2740-2741.
29. 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.
30. Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Cazier JB, Sainz J, Jakobsdottir M, Kostic J, Magnusdottir DN, Ghosh S, Agnarsson K, Birgisdottir B, Le Roux L, Olafsdottir A, Blondal T, Andresdottir M, Gretarsdottir OS, Bergthorsson JT, Gudbjartsson D, Gylfason A, Thorleifsson G, Manolescu A, Kristjansson K, Geirsson G, Isaksson H, Douglas J, Johansson JE, Balter K, Wiklund F, Montie JE, Yu X, Suarez BK, Ober C, Cooney KA, Gronberg H, Catalona WJ, Einarsson GV, Barkardottir RB, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K: A common variant associated with prostate cancer in European and African populations. Nat Genet 2006; 38: 652-658.
31. Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A, Rafnar T, Gudbjartsson D, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Blondal T, Stacey SN, Helgason A, Gunnarsdottir S, Olafsdottir A, Kristinsson KT, Birgisdottir B, Ghosh S, Thorlacius S, Magnusdottir D, Stefansdottir G, Kristjansson K, Bagger Y, Wilensky RL, Reilly MP, Morris AD, Kimber CH, Adeyemo A, Chen Y, Zhou J, So WY, Tong PC, Ng MC, Hansen T, Andersen G, Borch-Johnsen K, Jorgensen T, Tres A, Fuertes F, Ruiz- Echarri M, Asin L, Saez B, van Boven E, Klaver S, Swinkels DW, Aben KK, Graif T, Cashy J, Suarez BK, van Vierssen Trip O, Frigge ML, Ober C, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Palmer CN, Rotimi C, Chan JC, Pedersen O, Sigurdsson G, Benediktsson R, Jonsson E, Einarsson GV, Mayordomo JI, Catalona WJ, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K: Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007; 39: 977-983.
32. Johns LE, Houlston RS: A systematic review and meta-analysis of familial prostate cancer risk. BJU Int 2003; 91: 789-794.
33. Lu Q, Elston RC: Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type diabetes. Am J Hum Genet 2008; 82: 641-651.
34. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE: Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet 2009; 5:e1000337.
35. Centre for Epidemiology. Cancer incidence in Sweden 2004. Stockholm: The National Board of Health and Welfare, 2005. Available at http://www. socialstyrelsen.se/NR/rdonlyres/ A23BCC9E-23B5-4747-AAA9-23BB9 CDF4B75/4753/20054291.pdf.
36. Greenland S, Robins JM: Conceptual problems in the definition and interpretation of attributable fractions. Am J Epidemiol 1988; 128: 1185-1197.
37. Severi G, Byrnes GB, Hopper JL: Five genetic variants associated with prostate cancer. N Engl J Med 2008; 358: 2739-2740.
38. Ulmert D, Cronin AM, Bjork T, O'Brien MF, Scardino PT, Eastham JA, Becker C, Berglund G, Vickers AJ, Lilja H: Prostate-specific antigen at or before age 50 as a predictor of advanced prostate cancer diagnosed up to years later: a case-control study. BMC Med 2008; 6: 6.
39. Lilja H, Ulmert D, Vickers AJ: Prostate-specific antigen and prostate cancer: prediction, detection and monitoring. Nat Rev Cancer 2008; 8: 268-278.
40. Vickers A, Lilja H, Scardino P: Five genetic variants associated with prostate cancer. N Engl J Med 2008; 358: 2740.
41. Thompson IM, Ankerst DP, Chi C, Lucia MS, Goodman PJ, Crowley JJ, Parnes HL, Coltman CA Jr: Operating characteristics of prostate-specific antigen in men with an initial PSA level of 3.0 ng/ml or lower. JAMA 2005; 294: 66-70. (Pubitemid 41002840)
42. Thompson IM, Goodman PJ, Tangen CM, Lucia MS, Miller GJ, Ford LG, Lieber MM, Cespedes RD, Atkins JN, Lippman SM, Carlin SM, Ryan A, Szczepanek CM, Crowley JJ, Coltman CA Jr: The influence of finasteride on the development of prostate cancer. N Engl J Med 2003; 349: 215-224.
43. Scardino PT: The prevention of prostate cancer - the dilemma continues. N Engl J Med 2003; 349: 297-299.
44. Guston DH: Innovation policy: not just a jumbo shrimp. Nature 2008; 454: 940-941.
45. Shurin SB, Nabel EG: Pharmacogenomics - ready for prime time? N Engl J Med 2008; 358: 1061-1063.
46. Xu J, Isaacs WB, Gronberg H: Five genetic variants associated with prostate cancer. N Eng J Med 2008; 358: 2741.
47. Zheng SL, Sun J, Wiklund F, Gao Z, Stattin P, Purcell LD, Adami HO, Hsu FC, Zhu Y, Adolfsson J, Johansson JE, Turner AR, Adams TS, Liu W, Duggan D, Carpten JD, Chang BL, Isaacs WB, Xu J, Gronberg H: Genetic variants and family history predict prostate cancer similar to prostate-specific antigen. Clin Cancer Res 2009; 15: 1105-1111.