메뉴 건너뛰기




Volumn 7, Issue 1, 2015, Pages

So rare we need to hunt for them: Reframing the ethical debate on incidental findings

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; PROTEIN P53;

EID: 84939146777     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0198-3     Document Type: Article
Times cited : (17)

References (34)
  • 1
    • 84939168302 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man.
    • Online Mendelian Inheritance in Man. http://www.omim.org .
  • 2
    • 44949211505 scopus 로고    scopus 로고
    • Managing incidental findings in human subjects research: analysis and recommendations
    • Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW, et al. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics. 2008;36:219-48. doi: 10.1111/j.1748-720X.2008.00266.x .
    • (2008) J Law Med Ethics , vol.36 , pp. 219-248
    • Wolf, S.M.1    Lawrenz, F.P.2    Nelson, C.A.3    Kahn, J.P.4    Cho, M.K.5    Clayton, E.W.6
  • 3
    • 84874109945 scopus 로고    scopus 로고
    • To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts
    • Christenhusz GM, Devriendt K, Dierickx K. To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet. 2013;21:248-55. doi: 10.1038/ejhg.2012.130 .
    • (2013) Eur J Hum Genet , vol.21 , pp. 248-255
    • Christenhusz, G.M.1    Devriendt, K.2    Dierickx, K.3
  • 4
    • 84859561982 scopus 로고    scopus 로고
    • International normative perspectives on the return of individual research results and incidental findings in genomic biobanks
    • Zawati MH, Knoppers BM. International normative perspectives on the return of individual research results and incidental findings in genomic biobanks. Genet Med. 2012;14:484-9.
    • (2012) Genet Med , vol.14 , pp. 484-489
    • Zawati, M.H.1    Knoppers, B.M.2
  • 5
    • 84939129245 scopus 로고    scopus 로고
    • EURAT - Ethical and Legal Aspects of Whole Genome Sequencing.
    • EURAT - Ethical and Legal Aspects of Whole Genome Sequencing. http://www.uni-heidelberg.de/totalsequenzierung/english.html .
  • 6
    • 84939148121 scopus 로고    scopus 로고
    • Cornerstones for an ethically and legally informed practice of Whole Genome Sequencing.
    • Heidelberg: Marsilius-Kolleg der Universität Heidelberg
    • EURAT-Group. Cornerstones for an ethically and legally informed practice of Whole Genome Sequencing. Heidelberg: Marsilius-Kolleg der Universität Heidelberg; 2013.
    • (2013)
  • 7
    • 81255159136 scopus 로고    scopus 로고
    • Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays
    • Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, et al. Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat. 2011;32:1500-6. doi: 10.1002/humu.21581 .
    • (2011) Hum Mutat , vol.32 , pp. 1500-1506
    • Bruno, D.L.1    Stark, Z.2    Amor, D.J.3    Burgess, T.4    Butler, K.5    Corrie, S.6
  • 8
    • 84874262681 scopus 로고    scopus 로고
    • Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases
    • Kuan LC, Su MT, Kuo PL, Kuo TC. Direct duplication of the Y chromosome with normal phenotype - incidental finding in two cases. Andrologia. 2013;45:140-4. doi: 10.1016/j.pec.2012.09.01010.1111/j.1439-0272.2012.01320.x .
    • (2013) Andrologia , vol.45 , pp. 140-144
    • Kuan, L.C.1    Su, M.T.2    Kuo, P.L.3    Kuo, T.C.4
  • 9
    • 84898821625 scopus 로고    scopus 로고
    • An incidental finding of a large genomic deletion of BRCA1 on a molecular karyotype for a 5 year old child
    • Lewis A, James P. An incidental finding of a large genomic deletion of BRCA1 on a molecular karyotype for a 5 year old child. Hered Cancer Clin Pract. 2012;10:A73. doi: 10.1186/1897-4287-10-S2-A73 .
    • (2012) Hered Cancer Clin Pract , vol.10 , pp. A73
    • Lewis, A.1    James, P.2
  • 10
    • 84874017568 scopus 로고    scopus 로고
    • Modification of risk for cancer as a coincidental finding in DNA array investigation
    • Rostasy K, Fauth C, Gautsch K, Laimer I, Krabichler B, Wimmer K, et al. Modification of risk for cancer as a coincidental finding in DNA array investigation. Clin Genet. 2013;83:284-7. doi: 10.1111/j.1399-0004.2012.01881.x .
    • (2013) Clin Genet , vol.83 , pp. 284-287
    • Rostasy, K.1    Fauth, C.2    Gautsch, K.3    Laimer, I.4    Krabichler, B.5    Wimmer, K.6
  • 11
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921-9. doi: 10.1056/NEJMoa1206524 .
    • (2012) N Engl J Med , vol.367 , pp. 1921-1929
    • Ligt, J.1    Willemsen, M.H.2    Bon, B.W.M.3    Kleefstra, T.4    Yntema, H.G.5    Kroes, T.6
  • 12
    • 84862996297 scopus 로고    scopus 로고
    • Researcher and institutional review board chair perspectives on incidental findings in genomic research
    • Williams JK, Daack-Hirsch S, Driessnack M, Downing N, Shinkunas L, Brandt D, et al. Researcher and institutional review board chair perspectives on incidental findings in genomic research. Genet Test Mol Biomarkers. 2012;16:508-13. doi: 10.1089/gtmb.2011.0248 .
    • (2012) Genet Test Mol Biomarkers , vol.16 , pp. 508-513
    • Williams, J.K.1    Daack-Hirsch, S.2    Driessnack, M.3    Downing, N.4    Shinkunas, L.5    Brandt, D.6
  • 13
    • 84870837938 scopus 로고    scopus 로고
    • Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting
    • Downing NR, Williams JK, Daack-Hirsch S, Driessnack M, Simon CM. Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting. Patient Educ Couns. 2013;90:133-8. doi: 10.1038/gim.2013.7310.1016/j.pec.2012.09.010 .
    • (2013) Patient Educ Couns , vol.90 , pp. 133-138
    • Downing, N.R.1    Williams, J.K.2    Daack-Hirsch, S.3    Driessnack, M.4    Simon, C.M.5
  • 14
    • 84887447556 scopus 로고    scopus 로고
    • Researchers' views on return of incidental genomic research results: qualitative and quantitative findings
    • Klitzman R, Appelbaum PS, Fyer A, Martinez J, Buquez B, Wynn J, et al. Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med. 2013;15:888-95. doi: 10.1038/gim.2013.14010.1038/gim.2013.87 .
    • (2013) Genet Med , vol.15 , pp. 888-895
    • Klitzman, R.1    Appelbaum, P.S.2    Fyer, A.3    Martinez, J.4    Buquez, B.5    Wynn, J.6
  • 15
    • 84898441369 scopus 로고    scopus 로고
    • Processes and factors involved in decisions regarding return of incidental genomic findings in research
    • Klitzman R, Buquez B, Appelbaum PS, Fyer A, Chung WK. Processes and factors involved in decisions regarding return of incidental genomic findings in research. Genet Med. 2014;16:311-7. doi: 10.1038/gim.2014.2910.1038/gim.2013.140 .
    • (2014) Genet Med , vol.16 , pp. 311-317
    • Klitzman, R.1    Buquez, B.2    Appelbaum, P.S.3    Fyer, A.4    Chung, W.K.5
  • 16
    • 84880535720 scopus 로고    scopus 로고
    • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
    • Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565-74. doi: 10.1038/gim.2013.8710.1038/gim.2013.73 .
    • (2013) Genet Med , vol.15 , pp. 565-574
    • Green, R.C.1    Berg, J.S.2    Grody, W.W.3    Kalia, S.S.4    Korf, B.R.5    Martin, C.L.6
  • 17
    • 84939157303 scopus 로고    scopus 로고
    • Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
    • Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K. Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med. 2015. doi: 10.1038/gim.2014.196 .
    • (2015) Genet Med
    • Jurgens, J.1    Ling, H.2    Hetrick, K.3    Pugh, E.4    Schiettecatte, F.5    Doheny, K.6
  • 18
    • 84991491933 scopus 로고    scopus 로고
    • The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
    • Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014;16:741-50. doi: 10.1038/gim.2014.29 .
    • (2014) Genet Med , vol.16 , pp. 741-750
    • Lawrence, L.1    Sincan, M.2    Markello, T.3    Adams, D.R.4    Gill, F.5    Godfrey, R.6
  • 19
    • 84923872701 scopus 로고    scopus 로고
    • Actionable exomic incidental findings in 6503 participants: challenges of variant classification
    • Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015;25:305-15. doi: 10.1101/gr.183483.114 .
    • (2015) Genome Res , vol.25 , pp. 305-315
    • Amendola, L.M.1    Dorschner, M.O.2    Robertson, P.D.3    Salama, J.S.4    Hart, R.5    Shirts, B.H.6
  • 20
    • 27144525855 scopus 로고    scopus 로고
    • Whole-body CT screening: spectrum of findings and recommendations in 1192 patients
    • Furtado CD, Aguirre DA, Sirlin CB, Dang D, Stamato SK, Lee P, et al. Whole-body CT screening: spectrum of findings and recommendations in 1192 patients. Radiology. 2005;237:385-94. doi: 10.1148/radiol.2372041741 .
    • (2005) Radiology , vol.237 , pp. 385-394
    • Furtado, C.D.1    Aguirre, D.A.2    Sirlin, C.B.3    Dang, D.4    Stamato, S.K.5    Lee, P.6
  • 21
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
    • Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369:1502-11. doi: 10.1056/NEJMoa1306555 .
    • (2013) N Engl J Med , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3    Bainbridge, M.N.4    Willis, A.5    Ward, P.A.6
  • 22
    • 0004170198 scopus 로고
    • The social control of technology.
    • London: Pinter;
    • Collingridge D. The social control of technology. London: Pinter; 1980.
    • (1980)
    • Collingridge, D.1
  • 23
    • 77952319734 scopus 로고    scopus 로고
    • Collingridge's dilemma and technoscience
    • Liebert W, Schmidt J. Collingridge's dilemma and technoscience. Poiesis Prax. 2010;7:55-71. doi: 10.1007/s10202-010-0078-2 .
    • (2010) Poiesis Prax , vol.7 , pp. 55-71
    • Liebert, W.1    Schmidt, J.2
  • 24
    • 84866483989 scopus 로고    scopus 로고
    • Why genomics shouldn't get too personal: in favor of filters
    • Christenhusz GM, Devriendt K, Vermeesch J, Dierickx K. Why genomics shouldn't get too personal: in favor of filters. Am J Med Genet A. 2012;158A:2641-2. doi: 10.1002/ajmg.a.35547 .
    • (2012) Am J Med Genet A , vol.158A , pp. 2641-2642
    • Christenhusz, G.M.1    Devriendt, K.2    Vermeesch, J.3    Dierickx, K.4
  • 25
    • 84939197190 scopus 로고    scopus 로고
    • EuroGentest Guidelines for Diagnostic Next Generation Sequencing.
    • EuroGentest Guidelines for Diagnostic Next Generation Sequencing. http://www.eurogentest.org/fileadmin/templates/eugt/pdf/NGS_Guidelines/EuroGentest_NGS_guidelines_2014_-_final_draft_02-12-2014_v2.pdf .
  • 26
    • 44949089705 scopus 로고    scopus 로고
    • Incidental findings in human subjects research: what do investigators owe research participants?
    • 271-211
    • Miller FG, Mello MM, Joffe S. Incidental findings in human subjects research: what do investigators owe research participants? J Law Med Ethics. 2008;36:271-11. doi: 10.1111/j.1748-720X.2008.00269.x .
    • (2008) J Law Med Ethics , vol.36
    • Miller, F.G.1    Mello, M.M.2    Joffe, S.3
  • 27
    • 84873884799 scopus 로고    scopus 로고
    • Do researchers have an obligation to actively look for genetic incidental findings?
    • Gliwa C, Berkman BE. Do researchers have an obligation to actively look for genetic incidental findings? Am J Bioethics. 2013;13:32-42. doi: 10.1080/15265161.2012.754062 .
    • (2013) Am J Bioethics , vol.13 , pp. 32-42
    • Gliwa, C.1    Berkman, B.E.2
  • 29
    • 84870900036 scopus 로고    scopus 로고
    • Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
    • Xue Y, Chen Y, Ayub Q, Huang N, Ball Edward V, Mort M, et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet. 2012;91:1022-32. doi: 10.1016/j.ajhg.2012.10.015 .
    • (2012) Am J Hum Genet , vol.91 , pp. 1022-1032
    • Xue, Y.1    Chen, Y.2    Ayub, Q.3    Huang, N.4    Ball Edward, V.5    Mort, M.6
  • 30
    • 84861715051 scopus 로고    scopus 로고
    • Next steps in the sequence: the implications of whole genome sequencing for health in the UK.
    • Cambridge: PHG Foundation;
    • Wright C, Burton H, Hall A, Moorthie S, Pokorska-Bocci A, Sagoo G, et al. Next steps in the sequence: the implications of whole genome sequencing for health in the UK. Cambridge: PHG Foundation; 2011.
    • (2011)
    • Wright, C.1    Burton, H.2    Hall, A.3    Moorthie, S.4    Pokorska-Bocci, A.5    Sagoo, G.6
  • 32
    • 84859566974 scopus 로고    scopus 로고
    • Managing incidental findings and research results in genomic research involving biobanks & archived datasets
    • Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, et al. Managing incidental findings and research results in genomic research involving biobanks & archived datasets. Genet Med. 2012;14:361-84. doi: 10.1038/gim.2012.23 .
    • (2012) Genet Med , vol.14 , pp. 361-384
    • Wolf, S.M.1    Crock, B.N.2    Ness, B.3    Lawrenz, F.4    Kahn, J.P.5    Beskow, L.M.6
  • 33
    • 79959276553 scopus 로고    scopus 로고
    • Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time
    • Berg JSKM, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med. 2011;13:499-504. doi: 10.1097/GIM.0b013e318220aaba .
    • (2011) Genet Med , vol.13 , pp. 499-504
    • Berg, J.S.K.M.1    Evans, J.P.2
  • 34
    • 84924992117 scopus 로고    scopus 로고
    • Defining and managing incidental findings in genetic and genomic practice
    • Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A, Lucassen A. Defining and managing incidental findings in genetic and genomic practice. J Med Genet. 2014;51:715-23. doi: 10.1136/jmedgenet-2014-102435 .
    • (2014) J Med Genet , vol.51 , pp. 715-723
    • Shkedi-Rafid, S.1    Dheensa, S.2    Crawford, G.3    Fenwick, A.4    Lucassen, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.