Returning individual research results for genome sequences of pancreatic cancer
详细信息 查看全文
- 作者：Amber L Johns (1)
David K Miller (6)
Skye H Simpson (1)
Anthony J Gill (4)
Karin S Kassahn (6) (8)
Jeremy L Humphris (1)
Jaswinder S Samra (5)
Katherine Tucker (7)
Lesley Andrews (7)
David K Chang (1) (10) (9)
Nicola Waddell (6)
Marina Pajic (1)
John V Pearson (6)
Sean M Grimmond (6)
Andrew V Biankin (1) (10) (11) (12) (13) (14) (9)
Nikolajs Zeps (2) (3)
Australian Pancreatic Cancer Genome Initiative
1. Cancer Research Program ; Garvan Institute of Medical Research ; the Kinghorn Cancer Centre ; Sydney ; NSW ; 2010 ; Australia
6. Queensland Centre for Medical Genomics ; Institute for Molecular Biosciences ; University of Queensland ; St Lucia ; QLD ; 4072 ; Australia
4. Department of Anatomical Pathology ; Royal North Shore Hospital ; Sydney Australia and University of Sydney ; Sydney ; NSW ; 2065 ; Australia
8. Genetic and Molecular Pathology ; SA Pathology ; Women鈥檚 and Children鈥檚 Hospital ; North Adelaide ; SA ; 5006 ; Australia
5. Department of Surgery ; Royal North Shore Hospital ; Sydney ; NSW ; 2065 ; Australia
7. Hereditary Cancer Clinic ; Prince of Wales Hospital ; Randwick ; Sydney ; NSW ; 2031 ; Australia
10. West of Scotland Pancreatic Unit ; Glasgow Royal Infirmary ; Glasgow ; Scotland ; UK
9. Wolfson Wohl Cancer Research Centre ; Institute of Cancer Sciences ; University of Glasgow ; Glasgow ; Scotland ; UK
11. Department of Surgery ; Bankstown Hospital ; Eldridge Road ; Bankstown ; Sydney ; NSW ; 2200 ; Australia
12. South Western Sydney Clinical School ; Faculty of Medicine ; University of New South Wales ; Sydney ; NSW ; 2170 ; Australia
13. Wolfson Wohl Cancer Research Centre ; Institute of Cancer Sciences ; University of Glasgow ; Garscube Estate ; Switchback Road ; Bearsden ; Glasgow ; Scotland ; G61 1BD ; UK
14. Garvan Institute of Medical Research ; 370 Victoria St ; Darlinghurst ; NSW ; 2010 ; Australia
2. St John of God Subiaco ; Perth ; WA ; 6008 ; Australia
3. School of Surgery ; The University of Western Australia ; Perth ; WA ; 6009 ; Australia - 刊名：Genome Medicine
- 出版年：2014
- 出版时间：May 2014
- 年：2014
- 卷：6
- 期：5
- 全文大小：228 KB
- 参考文献：1. WMA Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects. [http://www.wma.net/en/30publications/10policies/b3/index.html]
National Statement on Ethical Conduct in Human Research. National Health and Medical Research Council, Australia
2. Fernandez, CV, Ruccione, K, Wells, RJ, Long, JB, Pelletier, W, Hooke, MC, Pentz, RD, Noll, RB, Baker, JN, O'Leary, M, Reaman, G, Adamson, PC, Joffe, S (2012) Recommendations for the return of research results to study participants and guardians: a report from the Children's Oncology Group. J Clin Oncol 30: pp. 4573-4579 CrossRef
3. Beskow, LM, Burke, W, Fullerton, SM, Sharp, RR (2012) Offering aggregate results to participants in genomic research: opportunities and challenges. Genet Med 14: pp. 490-496 CrossRef
4. Illes, J, Kirschen, MP, Edwards, E, Bandettini, P, Cho, MK, Ford, PJ, Glover, GH, Kulynych, J, Macklin, R, Michael, DB, Wolf, SM, Grabowski, T, Seto, B (2008) Practical approaches to incidental findings in brain imaging research. Neurology 70: pp. 384-390 CrossRef
5. Wolf, SM, Crock, BN, van Ness, B, Lawrenz, F, Kahn, JP, Beskow, LM, Cho, MK, Christman, MF, Green, RC, Hall, R, Illes, J, Keane, M, Knoppers, BM, Koenig, BA, Kohane, IS, Leroy, B, Maschke, KJ, McGeveran, W, Ossorio, P, Parker, LS, Petersen, GM, Richardson, HS, Scott, JA, Terry, SF, Wilfond, BS, Wolf, WA (2012) Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med 14: pp. 361-384 CrossRef
6. Wolf, SM (2008) Introduction: the challenge of incidental findings. J Law Med Ethics 36: pp. 216-218 CrossRef
7. Lander, ES, Linton, LM, Birren, B, Nusbaum, C, Zody, MC, Baldwin, J, Devon, K, Dewar, K, Doyle, M, FitzHugh, W, Funke, R, Gage, D, Harris, K, Heaford, A, Howland, J, Kann, L, Lehoczky, J, LeVine, R, McEwan, P, McKernan, K, Meldrim, J, Mesirov, JP, Miranda, C, Morris, W, Naylor, J, Raymond, C, Rosetti, M, Santos, R, Sheridan, A, Sougnez, C (2001) Initial sequencing and analysis of the human genome. Nature 409: pp. 860-921 CrossRef
8. Venter, JC, Adams, MD, Myers, EW, Li, PW, Mural, RJ, Sutton, GG, Smith, HO, Yandell, M, Evans, CA, Holt, RA, Gocayne, JD, Amanatides, P, Ballew, RM, Huson, DH, Wortman, JR, Zhang, Q, Kodira, CD, Zheng, XH, Chen, L, Skupski, M, Subramanian, G, Thomas, PD, Zhang, J, Gabor Miklos, GL, Nelson, C, Broder, S, Clark, AG, Nadeau, J, McKusick, VA, Zinder, N (2001) The sequence of the human genome. Science 291: pp. 1304-1351 CrossRef
9. Mardis, ER (2010) The $1,000 genome, the $100,000 analysis?. Genome Med 2: pp. 84 CrossRef
10. Knoppers, BM, Joly, Y, Simard, J, Durocher, F (2006) The emergence of an ethical duty to disclose genetic research results: international perspectives. Eur J Hum Genet 14: pp. 1170-1178 CrossRef
11. Forsberg, JS, Hansson, MG, Eriksson, S (2009) Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet 17: pp. 1544-1549 CrossRef
12. Beskow, LM, Burke, W (2010) Offering individual genetic research results: context matters. Sci Transl Med 2: pp. 38cm20 CrossRef
13. Ravitsky, V, Wilfond, BS (2006) Disclosing individual genetic results to research participants. Am J Bioeth 6: pp. 8-17 CrossRef
14. Renegar, G, Webster, CJ, Stuerzebecher, S, Harty, L, Ide, SE, Balkite, B, Rogalski-Salter, TA, Cohen, N, Spear, BB, Barnes, DM, Brazell, C (2006) Returning genetic research results to individuals: points-to-consider. Bioethics 20: pp. 24-36 CrossRef
15. Fabsitz, RR, McGuire, A, Sharp, RR, Puggal, M, Beskow, LM, Biesecker, LG, Bookman, E, Burke, W, Burchard, EG, Church, G, Clayton, EW, Eckfeldt, JH, Fernandez, CV, Fisher, R, Fullerton, SM, Gabriel, S, Gachupin, F, James, C, Jarvik, GP, Kittles, R, Leib, JR, O'Donnell, C, O'Rourke, PP, Rodriguez, LL, Schully, SD, Shuldiner, AR, Sze, RK, Thakuria, JV, Wolf, SM, Burke, GL (2010) Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet 3: pp. 574-580 CrossRef
16. McGuire, AL, Caulfield, T, Cho, MK (2008) Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet 9: pp. 152-156 CrossRef
17. Bledsoe, MJ, Grizzle, WE, Clark, BJ, Zeps, N (2012) Practical implementation issues and challenges for biobanks in the return of individual research results. Genet Med 14: pp. 478-483 CrossRef
18. Green, RC, Berg, JS, Grody, WW, Kalia, SS, Korf, BR, Martin, CL, McGuire, AL, Nussbaum, RL, O'Daniel, JM, Ormond, KE, Rehm, HL, Watson, MS, Williams, MS, Biesecker, LG (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15: pp. 565-574 CrossRef
19. Hudson, TJ, Anderson, W, Artez, A, Barker, AD, Bell, C, Bernab茅, RR, Bhan, MK, Calvo, F, Eerola, I, Gerhard, DS, Guttmacher, A, Guyer, M, Hemsley, FM, Jennings, JL, Kerr, D, Klatt, P, Kolar, P, Kusada, J, Lane, DP, Laplace, F, Youyong, L, Nettekoven, G, Ozenberger, B, Peterson, J, Rao, TS, Remacle, J, Schafer, AJ, Shibata, T, Stratton, MR (2010) International network of cancer genome projects. Nature 464: pp. 993-998 CrossRef
International ethical guidelines for biomedical research involving human subjects. Bull Med Ethics 182: pp. 17-23
Recommendation Rec(2006)4 of the Committee of Ministers to member states on research on biological materials of human origin.
20. Australian Pancreatic Cancer Genome Initiative. [http://www.pancreaticcancer.net.au]
21. International Cancer Genome Consortium. [http://www.icgc.org]
22. Biankin, AV, Waddell, N, Kassahn, KS, Gingras, MC, Muthuswamy, LB, Johns, AL, Miller, DK, Wilson, PJ, Patch, AM, Wu, J, Chang, DK, Cowley, MJ, Gardiner, BB, Song, S, Harliwong, I, Idrisoglu, S, Nourse, C, Nourbakhsh, E, Manning, S, Wani, S, Gongora, M, Pajic, M, Scarlett, CJ, Gill, AJ, Pinho, AV, Rooman, I, Anderson, M, Holmes, O, Leonard, C, Taylor, D (2012) Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 491: pp. 399-405 CrossRef
23. Perez-Mancera, PA, Rust, AG, van der Weyden, L, Kristiansen, G, Li, A, Sarver, AL, Silverstein, KA, Gr眉tzmann, R, Aust, D, R眉mmele, P, Kn枚sel, T, Herd, C, Stemple, DL, Kettleborough, R, Brosnan, JA, Li, A, Morgan, R, Knight, S, Yu, J, Stegeman, S, Collier, LS, ten Hoeve, JJ, de Ridder, J, Klein, AP, Goggins, M, Hruban, RH, Chang, DK, Biankin, AV, Grimmond, SM (2012) The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma. Nature 486: pp. 266-270
24. Berg, JS, Khoury, MJ, Evans, JP (2011) Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 13: pp. 499-504 CrossRef
25. Berg, JS, Amendola, LM, Eng, C, Van Allen, E, Gray, SW, Wagle, N, Rehm, HL, DeChene, ET, Dulik, MC, Hisama, FM, Burke, W, Spinner, NB, Garraway, L, Green, RC, Plon, S, Evans, JP, Jarvik, GP (2013) Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med 15: pp. 860-867 CrossRef
26. Harder, J, Ihorst, G, Heinemann, V, Hofheinz, R, Moehler, M, Buechler, P, Kloeppel, G, R枚cken, C, Bitzer, M, Boeck, S, Endlicher, E, Reinacher-Schick, A, Schmoor, C, Geissler, M (2012) Multicentre phase II trial of trastuzumab and capecitabine in patients with HER2 overexpressing metastatic pancreatic cancer. Br J Cancer 106: pp. 1033-1038 CrossRef
27. Xia, B, Dorsman, JC, Ameziane, N, de Vries, Y, Rooimans, MA, Sheng, Q, Pals, G, Errami, A, Gluckman, E, Llera, J, Wang, W, Livingston, DM, Joenje, H, de Winter, JP (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39: pp. 159-161 CrossRef
28. Luo, G, Long, J, Qiu, L, Liu, C, Xu, J, Yu, X (2011) Role of epidermal growth factor receptor expression on patient survival in pancreatic cancer: a meta-analysis. Pancreatology 11: pp. 595-600 CrossRef
29. Shalowitz, DI, Miller, FG (2008) Communicating the results of clinical research to participants: attitudes, practices, and future directions. PLoS Med 5: pp. e91 CrossRef
30. Richards, MP, Ponder, M, Pharoah, P, Everest, S, Mackay, J (2003) Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. J Med Ethics 29: pp. 93-96 CrossRef
31. Kassahn, KS, Holmes, O, Nones, K, Patch, AM, Miller, DK, Christ, AN, Harliwong, I, Bruxner, TJ, Xu, Q, Anderson, M, Wood, S, Leonard, C, Taylor, D, Newell, F, Song, S, Idrisoglu, S, Nourse, C, Nourbakhsh, E, Manning, S, Wani, S, Steptoe, A, Pajic, M, Cowley, MJ, Pinese, M, Chang, DK, Gill, AJ, Johns, AL, Wu, J, Wilson, PJ, Fink, L (2013) Somatic point mutation calling in low cellularity tumors. PLoS One 8: pp. e74380 CrossRef
32. McKenna, A, Hanna, M, Banks, E, Sivachenko, A, Cibulskis, K, Kernytsky, A, Garimella, K, Altshuler, D, Gabriel, S, Daly, M, DePristo, MA (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: pp. 1297-1303 CrossRef
33. Ye, K, Schulz, MH, Long, Q, Apweiler, R, Ning, Z (2009) Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25: pp. 2865-2871 CrossRef
34. Stenson, PD, Ball, EV, Howells, K, Phillips, AD, Mort, M, Cooper, DN (2009) The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics 4: pp. 69-72 CrossRef
35. Adzhubei, IA, Schmidt, S, Peshkin, L, Ramensky, VE, Gerasimova, A, Bork, P, Kondrashov, AS, Sunyaev, SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: pp. 248-249 CrossRef
36. Stenson, PDMM, Ball, EV, Shaw, K, Phillips, AD, Cooper, DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133: pp. 1-9 CrossRef
37. Chen, S, Parmigiani, G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25: pp. 1329-1333 CrossRef
38. Myriad-Genetics. [http://www.myriad.com/products/bracanalysis/]
39. Government, A (1988) Privacy Act 1988, Volume 119. ComLaw, Canberra
40. Australia Government: Privacy Act 1988 - SECT 95AA.
41. Byrski, T, Huzarski, T, Dent, R, Gronwald, J, Zuziak, D, Cybulski, C, Kladny, J, Gorski, B, Lubinski, J, Narod, SA (2009) Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 115: pp. 359-363 CrossRef
Comprehensive molecular characterization of human colon and rectal cancer. Nature 487: pp. 330-337 CrossRef - 刊物主题：Human Genetics; Proteomics; Bioinformatics; Internal Medicine;
- 出版者：BioMed Central
- ISSN：1756-994X
文摘
Background Disclosure of individual results to participants in genomic research is a complex and contentious issue. There are many existing commentaries and opinion pieces on the topic, but little empirical data concerning actual cases describing how individual results have been returned. Thus, the real life risks and benefits of disclosing individual research results to participants are rarely if ever presented as part of this debate. Methods The Australian Pancreatic Cancer Genome Initiative (APGI) is an Australian contribution to the International Cancer Genome Consortium (ICGC), that involves prospective sequencing of tumor and normal genomes of study participants with pancreatic cancer in Australia. We present three examples that illustrate different facets of how research results may arise, and how they may be returned to individuals within an ethically defensible and clinically practical framework. This framework includes the necessary elements identified by others including consent, determination of the significance of results and which to return, delineation of the responsibility for communication and the clinical pathway for managing the consequences of returning results. Results Of 285 recruited patients, we returned results to a total of 25 with no adverse events to date. These included four that were classified as medically actionable, nine as clinically significant and eight that were returned at the request of the treating clinician. Case studies presented depict instances where research results impacted on cancer susceptibility, current treatment and diagnosis, and illustrate key practical challenges of developing an effective framework. Conclusions We suggest that return of individual results is both feasible and ethically defensible but only within the context of a robust framework that involves a close relationship between researchers and clinicians.