메뉴 건너뛰기




Volumn 15, Issue 6, 2013, Pages 437-443

How can polygenic inheritance be used in population screening for common diseases?

Author keywords

evidence based medicine; genetics; genomics; polygenic model; public health; risk assessment; screening

Indexed keywords

ARTICLE; BREAST CANCER; CANCER MORTALITY; CANCER SCREENING; CLINICAL PRACTICE; COLORECTAL CANCER; GENETIC RISK; GENETIC SCREENING; GENOMICS; HEALTH CARE COST; HEALTH CARE SYSTEM; HEREDITY; HUMAN; MAMMOGRAPHY; MASS SCREENING; MORBIDITY; OUTCOME ASSESSMENT; PROSTATE CANCER; RISK ASSESSMENT; RISK FACTOR;

EID: 84878841277     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.182     Document Type: Article
Times cited : (47)

References (59)
  • 1
    • 84878860183 scopus 로고    scopus 로고
    • Incorporating genomics in breast and prostate cancer screening: Assessing the implications
    • e-pub ahead of print February 14
    • Chowdhury S, Dent T, Pashayan N, et al. Incorporating genomics in breast and prostate cancer screening: assessing the implications. Genet Med 2013, e-pub ahead of print February 14.
    • (2013) Genet Med
    • Chowdhury, S.1    Dent, T.2    Pashayan, N.3
  • 2
    • 79960481627 scopus 로고    scopus 로고
    • Reconsidering the criteria for evaluating proposed screening programs: Reflections from 4 current and former members of the U.S. Preventive Services Task Force
    • Harris R, Sawaya GF, Moyer VA, Calonge N. Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive Services Task Force. Epidemiol Rev 2011;33: 20-35.
    • (2011) Epidemiol Rev , vol.33 , pp. 20-35
    • Harris, R.1    Sawaya, G.F.2    Moyer, V.A.3    Calonge, N.4
  • 4
    • 79960476408 scopus 로고    scopus 로고
    • Overview of screening: Where we are and where we may be headed
    • Harris R. Overview of screening: where we are and where we may be headed. Epidemiol Rev 2011;33:1-6.
    • (2011) Epidemiol Rev , vol.33 , pp. 1-6
    • Harris, R.1
  • 5
    • 84878889524 scopus 로고    scopus 로고
    • United States Prevent ive Services Task Force Accessed 18 November 2012
    • United States Prevent ive Services Task Force. http://www. uspreventiveservicestaskforce.org/index.html Accessed 18 November 2012.
  • 6
    • 79952431304 scopus 로고    scopus 로고
    • Predictive, personalized, preventive, participatory (P4) cancer medicine
    • Hood L, Friend SH. Predictive, personalized, preventive, participatory (P4) cancer medicine. Nat Rev Clin Oncol 2011;8:184-187.
    • (2011) Nat Rev Clin Oncol , vol.8 , pp. 184-187
    • Hood, L.1    Friend, S.H.2
  • 7
    • 72049100691 scopus 로고    scopus 로고
    • Screening for breast cancer: USPSTF recommendation statement
    • US Preventive Services Task Force
    • US Preventive Services Task Force. Screening for breast cancer: USPSTF recommendation statement. Ann Int Med 2010;151:716-726.
    • (2010) Ann Int Med , vol.151 , pp. 716-726
  • 9
    • 84863961968 scopus 로고    scopus 로고
    • Screening for prostate cancer: U.S. Preventive Services Task Force recommendation statement
    • U.S. Preventive Services Task Force
    • Moyer VA; U.S. Preventive Services Task Force. Screening for prostate cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2012;157:120-134.
    • (2012) Ann Intern Med , vol.157 , pp. 120-134
    • Moyer, V.A.1
  • 10
    • 79960053980 scopus 로고    scopus 로고
    • Genetic architecture of cancer and other complex diseases: Lessons learned and future directions
    • Hindorff LA, Gillanders EM, Manolio TA. Genetic architecture of cancer and other complex diseases: lessons learned and future directions. Carcinogenesis 2011;32:945-954.
    • (2011) Carcinogenesis , vol.32 , pp. 945-954
    • Hindorff, L.A.1    Gillanders, E.M.2    Manolio, T.A.3
  • 12
    • 80955144198 scopus 로고    scopus 로고
    • Whole exome and whole genome sequencing
    • Bick D, Dimmock D. Whole exome and whole genome sequencing. Curr Opin Pediatr 2011;23:594-600.
    • (2011) Curr Opin Pediatr , vol.23 , pp. 594-600
    • Bick, D.1    Dimmock, D.2
  • 13
    • 80053533776 scopus 로고    scopus 로고
    • Genomics reaches the clinic: From basic discoveries to clinical impact
    • Manolio TA, Green ED. Genomics reaches the clinic: from basic discoveries to clinical impact. Cell 2011;147:14-16.
    • (2011) Cell , vol.147 , pp. 14-16
    • Manolio, T.A.1    Green, E.D.2
  • 14
    • 84878856804 scopus 로고    scopus 로고
    • National Newborn Screening and Genetics Resource Center Accessed 19 November 2012
    • National Newborn Screening and Genetics Resource Center. http://genes-r-us. uthscsa.edu/Accessed 19 November 2012.
  • 15
    • 33745297628 scopus 로고    scopus 로고
    • Expanded newborn screening for biochemical disorders: The effect of a false-positive result
    • DOI 10.1542/peds.2005-2294
    • Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 2006;117:1915-1921. (Pubitemid 46071234)
    • (2006) Pediatrics , vol.117 , Issue.6 , pp. 1915-1921
    • Gurian, E.A.1    Kinnamon, D.D.2    Henry, J.J.3    Waisbren, S.E.4
  • 16
    • 24644456397 scopus 로고    scopus 로고
    • Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement
    • US Preventive Services Task Force
    • US Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Int Med 2005;143:355-361.
    • (2005) Ann Int Med , vol.143 , pp. 355-361
  • 17
    • 55749085431 scopus 로고    scopus 로고
    • Screening for colorectal cancer: Recommendation statement
    • U S Preventive Services Task Force
    • U S Preventive Services Task Force. Screening for colorectal cancer: recommendation statement. Ann Int Med 2008;149:627-637.
    • (2008) Ann Int Med , vol.149 , pp. 627-637
  • 19
    • 59849108362 scopus 로고    scopus 로고
    • Recommendation 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
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group
    • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group. Recommendation 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.
    • (2009) Genet Med , vol.11 , pp. 35-41
  • 20
    • 0030694698 scopus 로고    scopus 로고
    • An approximate model of polygenic inheritance
    • Lange K. An approximate model of polygenic inheritance. Genetics 1997;147:1423-1430. (Pubitemid 27467480)
    • (1997) Genetics , vol.147 , Issue.3 , pp. 1423-1430
    • Lange, K.1
  • 21
    • 40849097776 scopus 로고    scopus 로고
    • Heritability in the genomics era-concepts and misconceptions
    • Visscher PM, Hill WG, Wray NR. Heritability in the genomics era-concepts and misconceptions. Nat Rev Genet 2008;9:255-266.
    • (2008) Nat Rev Genet , vol.9 , pp. 255-266
    • Visscher, P.M.1    Hill, W.G.2    Wray, N.R.3
  • 22
    • 80053050838 scopus 로고    scopus 로고
    • GWAS Integrator: A bioinformatics tool to explore human genetic associations reported in published genome-wide association studies
    • Yu W, Yesupriya A, Wulf A, et al. GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies. Eur J Hum Genet 2011;19:1095-1099.
    • (2011) Eur J Hum Genet , vol.19 , pp. 1095-1099
    • Yu, W.1    Yesupriya, A.2    Wulf, A.3
  • 23
    • 80755140152 scopus 로고    scopus 로고
    • A methodological perspective on genetic risk prediction studies in type 2 diabetes: Recommendations for future research
    • Willems SM, Mihaescu R, Sijbrands EJ, van Duijn CM, Janssens AC. A methodological perspective on genetic risk prediction studies in type 2 diabetes: recommendations for future research. Curr Diab Rep 2011;11:511-518.
    • (2011) Curr Diab Rep , vol.11 , pp. 511-518
    • Willems, S.M.1    Mihaescu, R.2    Sijbrands, E.J.3    Van Duijn, C.M.4    Janssens, A.C.5
  • 24
    • 84857233884 scopus 로고    scopus 로고
    • Genetic risk profiling for prediction of type 2 diabetes
    • Mihaescu R, Meigs J, Sijbrands E, et al. Genetic risk profiling for prediction of type 2 diabetes. PLoS Curr 2011;11:3RRN1208.
    • (2011) PLoS Curr , vol.11
    • Mihaescu, R.1    Meigs, J.2    Sijbrands, E.3
  • 26
    • 47649099448 scopus 로고    scopus 로고
    • Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk
    • DOI 10.1093/jnci/djn180
    • Gail MH. Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. J Natl Cancer Inst 2008;100:1037-1041. (Pubitemid 352019794)
    • (2008) Journal of the National Cancer Institute , vol.100 , Issue.14 , pp. 1037-1041
    • Gail, M.H.1
  • 27
    • 77949578084 scopus 로고    scopus 로고
    • Performance of common genetic variants in breast-cancer risk models
    • Wacholder S, Hartge P, Prentice R, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med 2010;362:986-993.
    • (2010) N Engl J Med , vol.362 , pp. 986-993
    • Wacholder, S.1    Hartge, P.2    Prentice, R.3
  • 29
    • 59849083008 scopus 로고    scopus 로고
    • Clinical utility of five genetic variants for predicting prostate cancer risk and mortality
    • Salinas CA, Koopmeiners JS, Kwon EM, et al. Clinical utility of five genetic variants for predicting prostate cancer risk and mortality. Prostate 2009;69:363-372.
    • (2009) Prostate , vol.69 , pp. 363-372
    • Salinas, C.A.1    Koopmeiners, J.S.2    Kwon, E.M.3
  • 31
    • 79959924526 scopus 로고    scopus 로고
    • Translating genomics into improved population screening: Hype or hope?
    • Pashayan N, Pharoah P. Translating genomics into improved population screening: hype or hope? Hum Genet 2011;130:19-21.
    • (2011) Hum Genet , vol.130 , pp. 19-21
    • Pashayan, N.1    Pharoah, P.2
  • 32
    • 84862999273 scopus 로고    scopus 로고
    • Family history: Still relevant in the genomics era
    • Doerr M, Teng K. Family history: still relevant in the genomics era. Cleve Clin J Med 2012;79:331-336.
    • (2012) Cleve Clin J Med , vol.79 , pp. 331-336
    • Doerr, M.1    Teng, K.2
  • 33
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-753.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 34
    • 84863669137 scopus 로고    scopus 로고
    • Personalized medicine: Hope or hype
    • Wald NJ, Morris JK. Personalized medicine: hope or hype. Eur Heart J 2012;33:1553-1554.
    • (2012) Eur Heart J , vol.33 , pp. 1553-1554
    • Wald, N.J.1    Morris, J.K.2
  • 35
    • 84869451873 scopus 로고    scopus 로고
    • Effect of three decades of screening mammography on breast-cancer incidence
    • Bleyer A, Welch HG. Effect of three decades of screening mammography on breast-cancer incidence. N Engl J Med 2012;367:1998-2005.
    • (2012) N Engl J Med , vol.367 , pp. 1998-2005
    • Bleyer, A.1    Welch, H.G.2
  • 36
    • 84872014977 scopus 로고    scopus 로고
    • Adding age and genetic risk to PSA test could improve screening for prostate cancer
    • Kmietowicz Z. Adding age and genetic risk to PSA test could improve screening for prostate cancer. BMJ 2012;345:e7467.
    • (2012) BMJ , vol.345
    • Kmietowicz, Z.1
  • 37
    • 70349762057 scopus 로고    scopus 로고
    • A model of prostate-specific antigen screening outcomes for low-to high-risk men: Information to support informed choices
    • Howard K, Barratt A, Mann GJ, Patel MI. A model of prostate-specific antigen screening outcomes for low-to high-risk men: information to support informed choices. Arch Intern Med 2009;169:1603-1610.
    • (2009) Arch Intern Med , vol.169 , pp. 1603-1610
    • Howard, K.1    Barratt, A.2    Mann, G.J.3    Patel, M.I.4
  • 38
    • 84878881727 scopus 로고    scopus 로고
    • Agency for Healthcare Research Quality, technical report: multigene panels in prostate cancer risk assessment Accessed 19 November 2012
    • Agency for Healthcare Research Quality, technical report: multigene panels in prostate cancer risk assessment. http://effectivehealthcare.ahrq.gov/ index.cfm/search-for-guides-reviews-and-reports/?pageaction=displayproduct& product id=1172 Accessed 19 November 2012.
  • 40
    • 77954013977 scopus 로고    scopus 로고
    • The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer
    • Hawken SJ, Greenwood CM, Hudson TJ, et al. The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. Hum Genet 2010;128:89-101.
    • (2010) Hum Genet , vol.128 , pp. 89-101
    • Hawken, S.J.1    Greenwood, C.M.2    Hudson, T.J.3
  • 41
    • 30544437445 scopus 로고    scopus 로고
    • Relative and absolute risk of colorectal cancer for individuals with a family history: A meta-analysis
    • DOI 10.1016/j.ejca.2005.09.023, PII S0959804905009457
    • Butterworth AS, Higgins JP, Pharoah P. Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis. Eur J Cancer 2006;42:216-227. (Pubitemid 43083493)
    • (2006) European Journal of Cancer , vol.42 , Issue.2 , pp. 216-227
    • Butterworth, A.S.1    Higgins, J.P.T.2    Pharoah, P.3
  • 43
    • 80052502060 scopus 로고    scopus 로고
    • How much colonoscopy screening should be recommended to individuals with various degrees of family history of colorectal cancer?
    • Wilschut JA, Steyerberg EW, van Leerdam ME, Lansdorp-Vogelaar I, Habbema JD, van Ballegooijen M. How much colonoscopy screening should be recommended to individuals with various degrees of family history of colorectal cancer? Cancer 2011;117:4166-4174.
    • (2011) Cancer , vol.117 , pp. 4166-4174
    • Wilschut, J.A.1    Steyerberg, E.W.2    Van Leerdam, M.E.3    Lansdorp-Vogelaar, I.4    Habbema, J.D.5    Van Ballegooijen, M.6
  • 44
    • 84857955703 scopus 로고    scopus 로고
    • Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis
    • Ku CS, Wu M, Cooper DN, et al. Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis. Expert Rev Mol Diagn 2012;12:159-173.
    • (2012) Expert Rev Mol Diagn , vol.12 , pp. 159-173
    • Ku, C.S.1    Wu, M.2    Cooper, D.N.3
  • 45
    • 82355161521 scopus 로고    scopus 로고
    • Genetic epidemiology with a capital E, ten years after
    • Khoury MJ, Gwinn M, Clyne M, Yu W. Genetic epidemiology with a capital E, ten years after. Genet Epidemiol 2011;35:845-852.
    • (2011) Genet Epidemiol , vol.35 , pp. 845-852
    • Khoury, M.J.1    Gwinn, M.2    Clyne, M.3    Yu, W.4
  • 46
    • 33748797136 scopus 로고    scopus 로고
    • Genes, environment and the value of prospective cohort studies
    • DOI 10.1038/nrg1919, PII NRG1919
    • Manolio TA, Bailey-Wilson JE, Collins FS. Genes, environment and the value of prospective cohort studies. Nat Rev Genet 2006;7:812-820. (Pubitemid 44413225)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.10 , pp. 812-820
    • Manolio, T.A.1    Bailey-Wilson, J.E.2    Collins, F.S.3
  • 47
    • 84860607102 scopus 로고    scopus 로고
    • New models for large prospective studies: Is there a better way?
    • Manolio TA, Weis BK, Cowie CC, et al. New models for large prospective studies: is there a better way? Am J Epidemiol 2012;175:859-866.
    • (2012) Am J Epidemiol , vol.175 , pp. 859-866
    • Manolio, T.A.1    Weis, B.K.2    Cowie, C.C.3
  • 48
    • 84863705458 scopus 로고    scopus 로고
    • Personalized medicine: Hope or hype?
    • Salari K, Watkins H, Ashley EA. Personalized medicine: hope or hype? Eur Heart J 2012;33:1564-1570.
    • (2012) Eur Heart J , vol.33 , pp. 1564-1570
    • Salari, K.1    Watkins, H.2    Ashley, E.A.3
  • 49
    • 84869506047 scopus 로고    scopus 로고
    • The prostate cancer conundrum revisited: Treatment changes and prostate cancer mortality declines
    • Etzioni R, Gulati R, Tsodikov A, et al. The prostate cancer conundrum revisited: treatment changes and prostate cancer mortality declines. Cancer 2012;118:5955-5963.
    • (2012) Cancer , vol.118 , pp. 5955-5963
    • Etzioni, R.1    Gulati, R.2    Tsodikov, A.3
  • 51
    • 59849108152 scopus 로고    scopus 로고
    • The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP working group
    • Teutsch SM, Bradley LA, Palomaki GE, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP working group. Genet Med 2009;11:3-14.
    • (2009) Genet Med , vol.11 , pp. 3-14
    • Teutsch, S.M.1    Bradley, L.A.2    Palomaki, G.E.3
  • 52
    • 84863712298 scopus 로고    scopus 로고
    • Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
    • Goddard KA, Knaus WA, Whitlock E, et al. Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research. Genet Med 2012;14:633-642.
    • (2012) Genet Med , vol.14 , pp. 633-642
    • Goddard, K.A.1    Knaus, W.A.2    Whitlock, E.3
  • 53
    • 78649631900 scopus 로고    scopus 로고
    • A formal riskbenefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice
    • Veenstra DL, Roth JA, Garrison LP Jr, Ramsey SD, Burke W. A formal riskbenefit framework for genomic tests: facilitating the appropriate translation of genomics into clinical practice. Genet Med 2010;12:686-693.
    • (2010) Genet Med , vol.12 , pp. 686-693
    • Veenstra, D.L.1    Roth, J.A.2    Garrison Jr., L.P.3    Ramsey, S.D.4    Burke, W.5
  • 55
    • 77953937865 scopus 로고    scopus 로고
    • The rules remain the same for genomic medicine: The case against "reverse genetic exceptionalism"
    • Evans JP, Burke W, Khoury M. The rules remain the same for genomic medicine: the case against "reverse genetic exceptionalism." Genet Med 2010;12:342-343.
    • (2010) Genet Med , vol.12 , pp. 342-343
    • Evans, J.P.1    Burke, W.2    Khoury, M.3
  • 56
    • 69549110336 scopus 로고    scopus 로고
    • Personal utility and genomic information: Look before you leap
    • Grosse SD, McBride CM, Evans JP, Khoury MJ. Personal utility and genomic information: look before you leap. Genet Med 2009;11:575-576.
    • (2009) Genet Med , vol.11 , pp. 575-576
    • Grosse, S.D.1    McBride, C.M.2    Evans, J.P.3    Khoury, M.J.4
  • 57
    • 84863607440 scopus 로고    scopus 로고
    • Direct-to-consumer genetic testing: Introduction to the special issue
    • Myers MF, Bernhardt BA. Direct-to-consumer genetic testing: introduction to the special issue. J Genet Couns 2012;21:357-360.
    • (2012) J Genet Couns , vol.21 , pp. 357-360
    • Myers, M.F.1    Bernhardt, B.A.2
  • 58
    • 82755190462 scopus 로고    scopus 로고
    • Direct-to-consumer genetic testing: Reliable or risky?
    • Spencer DH, Lockwood C, Topol E, et al. Direct-to-consumer genetic testing: reliable or risky? Clin Chem 2011;57:1641-1644.
    • (2011) Clin Chem , vol.57 , pp. 1641-1644
    • Spencer, D.H.1    Lockwood, C.2    Topol, E.3
  • 59
    • 69549126536 scopus 로고    scopus 로고
    • The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop
    • Khoury MJ, McBride CM, Schully SD, et al. The Scientific Foundation for Personal Genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med 2009;11:559-567.
    • (2009) Genet Med , vol.11 , pp. 559-567
    • Khoury, M.J.1    McBride, C.M.2    Schully, S.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.