Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

BMC Medical Genomics

Volumn 5, Issue , 2012, Pages

  Facio, Flavia M ^a   Sapp, Julie C ^a   Linn, Amy ^a,b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Informed consent; Whole exome sequencing; Whole genome sequencing

Indexed keywords

CLINICAL RESEARCH; CONFIDENTIALITY; CONTROLLED STUDY; ETIOLOGY; EXPERIMENT; FEASIBILITY STUDY; GENOMICS; HYPOTHESIS; INFORMED CONSENT; MASSIVELY PARALLEL SEQUENCING; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PRIVACY; REVIEW; SEQUENCE ANALYSIS; STUDY DESIGN;

BIOMEDICAL RESEARCH; DUTY TO WARN; GENOMICS; GENOTYPE; HUMANS; INFORMED CONSENT; PRIVACY; RESEARCH DESIGN;

EID: 84867214722     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/1755-8794-5-45     Document Type: Review

References (23)

1. New challenges for informed consent through whole genome array testing. Netzer C, Klein C, Kohlhase J, Kubisch C, J Med Genet 2009 46 495 496 10.1136/jmg.2009.068015 19571117
2. Informed consent in genomics and genetic research. McGuire AL, Beskow LM, Annu Rev Genomics Hum Genet 2010 11 361 381 10.1146/annurev-genom-082509-141711 20477535
3. Reporting genetic results in research studies: Summary and recommendations of an NHLBI Working Group. Bookman EB, Langehorne AA, Eckfeldt JH, Glass KC, Jarvik GP, Klag M, Koski G, Motulsky A, Wilfond B, Manolio TA, Fabsitz RR, Luepker RV, NHLBI Working Group, Am J Med Genet A 2006 140 1033 1040 16575896
4. Whole genome sequencing. Ng PC, Kirkness EF, Methods Mol Biol 2010 628 215 226 10.1007/978-1-60327-367-1-12 20238084
5. Informed consent in the genomics era. Mascalzoni D, Hicks A, Pramstaller P, Wjst M, PLoS Med 2008 5 192 10.1371/journal.pmed.0050192 18798689
6. Tailoring the process of informed consent in genetic and genomic research. Rotimi CN, Marshall PA, Genome Med 2010 2 20 10.1186/gm141 20346094
7. Disclosure of individual genetic data to research participants: the debate reconsidered. Bredenoord AL, Kroes HY, Cuppen E, Parker M, van Delden JJ, Trends Genet 2011 27 41 47 10.1016/j.tig.2010.11.004 21190750
8. Broadening research consent in the era of genome-informed medicine. Kronenthal C, Delaney SK, Christman MF, Genet Med 2012 14 432 436 10.1038/gim.2011.76 22422050
9. Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Forsberg JS, Hansson MG, Eriksson S, Eur J Hum Genet 2009 17 1544 1549 10.1038/ejhg.2009.87 19471310
10. Disclosing individual results of clinical research: implications of respect for participants. Shalowitz DI, Miller FG, JAMA 2005 294 737 740 10.1001/jama.294.6.737 16091577 (Pubitemid 41159294)
11. Informing study participants of research results: an ethical imperative. Fernandez CV, Kodish E, Weijer C, IRB 2003 25 12 19 14649249
12. Personal genome research: what should the participant be told? McGuire AL, Lupski JR, Trends Genet 2010 26 199 201 10.1016/j.tig.2009.12.007 20381895
13. Managing incidental findings in human subjects research: analysis and recommendations. Wolf SM, Lawrenz FP, Nelson CA, Kahn JP, Cho MK, Clayton EW, Fletcher JG, Georgieff MK, Hammerschmidt D, Hudson K, Illes J, Kapur V, Keane MA, Koenig BA, Leroy BS, McFarland EG, Paradise J, Parker LS, Terry SF, Van Ness B, Wilfond BS, J Law Med Ethics 2008 36 219 248 10.1111/j.1748-720X.2008.00266. x 18547191
14. Multidimensional results reporting to participants in genomic studies: Getting it right. Kohane IS, Taylor PL, Sci Transl Med 2010 2 37cm19 10.1126/scitranslmed.3000809 20574066
15. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a national heart, lung, and blood institute working group. 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, National Heart, Lung, and Blood Institute working group, Circ Cardiovasc Genet 2010 3 574 580 10.1161/CIRCGENETICS.110.958827 21156933
16. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeqTM study. Facio FM, Fisher T, Eidem H, Brooks S, Linn A, Biesecker LG, Biesecker BB, Eu J Hum Genet in press
17. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Morton NE, Am J Hum Genet 1956 8 80 96 13313518
18. The mutational load due to detrimental genes in man. Morton NE, Am J Hum Genet 1960 12 348 364 14424476
19. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED, NISC Comparative Sequencing Program, Genome Res 2009 19 1665 1674 10.1101/gr.092841.109 19602640
20. Medicine. Reestablishing the researcher-patient compact. Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM, Science 2007 316 836 837 10.1126/science.1135489 17495156 (Pubitemid 46766561)
21. Genomic Research and Human Subject Privacy. Lin Z, Owen AB, Altman RB, Science 2004 305 183 10.1126/science.1095019 15247459 (Pubitemid 38886715)
22. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW, PLoS Genet 2008 29 1000167
23. Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Facio FM, Brooks S, Loewenstein J, Green S, Biesecker LG, Biesecker BB, Eur J Hum Genet 2011 19 1213 1217 10.1038/ejhg.2011.123 21731059