Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology

Journal of Clinical Oncology

Volumn 31, Issue 15, 2013, Pages 1842-1848

  Lolkema, Martijn P ^a   Gadellaa van Hooijdonk, Christa G ^a   Bredenoord, Annelien L ^a   Kapitein, Peter ^c   Roach, Nancy ^d   Cuppen, Edwin ^a,b   Knoers, Nine V ^a   Voest, Emile E ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c Inspire2Live   (Netherlands)

^d Patient Advocacy   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER PATIENT; GENETICS; HUMAN; MEDICAL ETHICS; MEDICAL INFORMATION; NEXT GENERATION SEQUENCING; ONCOLOGY; PATIENT CODING; PATIENT COUNSELING; PRIORITY JOURNAL; REVIEW; CONFIDENTIALITY; ETHICS; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; INTERPERSONAL COMMUNICATION; LEGAL ASPECT; METHODOLOGY; MUTATION; NEOPLASM; PSYCHOLOGICAL ASPECT;

CONFIDENTIALITY; DISCLOSURE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MEDICAL ONCOLOGY; MUTATION; NEOPLASMS;

MLCS; MLOWN;

EID: 84880482533     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2012.45.2789     Document Type: Review

References (65)

1. Sosman JA, Kim KB, Schuchter L, et al: Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N Engl J Med 366:707-714, 2012
2. Heinrich MC, Corless CL, Demetri GD, et al: Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21:4342-4349, 2003
3. Druker BJ, Sawyers CL, Kantarjian H, et al: Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic my-eloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. N Engl J Med 344:1038-1042, 2001
4. Kwak EL, Bang YJ, Camidge DR, et al: Ana-plastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med 363:1693-1703, 2010
5. Slamon DJ, Leyland-Jones B, Shak S, et al: Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2. N Engl J Med 344:783-792, 2001
6. Gonzaga-Jauregui C, Lupski JR, Gibbs RA: Human genome sequencing in health and disease. Annu Rev Med 63:35-61, 2012
7. Girirajan S, Campbell CD, Eichler EE: Human copy number variation and complex genetic disease. Annu Rev Genet 45:203-226, 2011
8. Johnston JJ, Rubinstein WS, Facio FM, et al: Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 91:97-108, 2012
9. Hoge SK, Appelbaum PS: Ethics and neuro-psychiatric genetics: A review of major issues. Int J Neuropsychopharmacol 15:1547-1557, 2012
10. Wolf SM: The past, present, and future of the debate over return of research results and incidental findings. Genet Med 14:355-357, 2012
11. Biesecker LG: Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project. Genet Med 14:393-398, 2012
12. Schmidtke J, Cassiman JJ: The EuroGentest clinical utility gene cards. Eur J Hum Genet 18:1068, 2010
13. Isasi R, Knoppers BM, Andrews PW, et al: Disclosure and management of research findings in stem cell research and banking: Policy statement. Regen Med 7:439-448, 2012
14. Bredenoord AL, Kroes HY, Cuppen E, et al: Disclosure of individual genetic data to research participants: The debate reconsidered. Trends Genet 27:41-47, 2011
15. Angrist M: You never call, you never write: Why return of ‘omic’ results to research participants is both a good idea and a moral imperative. Per Med 8:651-657, 2011
16. [No authors listed]: Incidental benefits. Nature 483:373, 2012
17. Hayden EC: DNA donor rights affirmed. Nature 483:387, 2012
18. National Heart, Lung, and Blood Institute working group, Fabsitz RR, McGuire A, et al: 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 3:574-580, 2010
19. Bredenoord AL, Onland-Moret NC, Van Delden JJ: Feedback of individual genetic results to research participants: In favor of a qualified disclosure policy. Hum Mutat 32:861-867, 2011
20. Ormond KE, Wheeler MT, Hudgins L, et al: Challenges in the clinical application of whole-genome sequencing. Lancet 375:1749-1751, 2010
21. Bollinger JM, Scott J, Dvoskin R, et al: Public preferences regarding the return of individual genetic research results: Findings from a qualitative focus group study. Genet Med 14:451-457, 2012
22. Jacobsen PB, Wells KJ, Meade CD, et al: Effects of a brief multimedia psychoeducational intervention on the attitudes and interest of patients with cancer regarding clinical trial participation: A multicenter randomized controlled trial. J Clin Oncol 30:2516-2521, 2012
23. Ceballos RM, Newcomb PA, Beasley JM, et al: Colorectal cancer cases and relatives of cases indicate similar willingness to receive and disclose genetic information. Genet Test 12:415-420, 2008
24. Petersen GM, Larkin E, Codori AM, et al: Attitudes toward colon cancer gene testing: Survey of relatives of colon cancer patients. Cancer Epide-miol Biomarkers Prev 8:337-344, 1999
25. Esplen MJ, Madlensky L, Aronson M, et al: Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: Motivational factors and psychosocial functioning. Clin Genet 72:394-401, 2007
26. Lips CJ, Landsvater RM, Höppener J, et al: Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331:828-835, 1994
27. Meijers-Heijboer H, van Geel B, van Putten WL, et al: Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159-164, 2001
28. Domchek SM, Friebel TM, Singer CF, et al: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304:967-975, 2010
29. Hoover DJ, Paragi PR, Santoro E, et al: Prophylactic mastectomy in high risk patients: A practice-based review of the indications—Do we follow guidelines? Breast Dis 31:19-27, 2010
30. Hallowell N, Cooke S, Crawford G, et al: An investigation of patients’ motivations for their participation in genetics-related research. J Med Ethics 36:37-45, 2010
31. Murphy J, Scott J, Kaufman D, et al: Public expectations for return of results from large cohort genetic research. Am J Bioeth 8:36-43, 2008
32. Wendler D, Emanuel E: The debate over research on stored biological samples: What do sources think? Arch Intern Med 162:1457-1462, 2002
33. Dixon-Woods M, Ashcroft RE, Jackson CJ, et al: Beyond “misunderstanding”: Written information and decisions about taking part in a genetic epidemiology study. Soc Sci Med 65:2212-2222, 2007
34. Fisher R: A closer look revisited: Are we subjects or are we donors? Genet Med 14:458-460, 2012
35. Chan B, Facio FM, Eidem H, et al: Genomic inheritances: Disclosing individual research results from whole-exome sequencing to deceased participants’ relatives. Am J Bioeth 12:1-8, 2012
36. Bredenoord AL, van Delden JJ: Disclosing individual genetic research results to deceased participants’ relatives by means of a qualified disclosure policy. Am J Bioeth 12:10-12, 2012
37. Wolf SM, Lawrenz FP, Nelson CA, et al: Managing incidental findings in human subjects research: Analysis and recommendations. J Law Med Ethics 36:219-248, 211, 2008
38. McGuire AL, Oliver JM, Slashinski MJ, et al: To share or not to share: A randomized trial of consent for data sharing in genome research. Genet Med 13:948-955, 2011
39. Netherlands Foundation for the Detection of Hereditary Tumours (STOET), Dutch Society for Clinical Genetics (VKGN): Erfelijke tumoren: Richtli-jnen voor diagnostiek en preventie. (Hereditary cancer syndromes: Guidelines for diagnosis and prevention), 2010
40. Spurdle AB, Healey S, Devereau A, et al: ENIGMA: Evidence-based network for the interpretation of germline mutant alleles—An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 33:2-7, 2012
41. Radice P, De Summa S, Caleca L, et al: Unclassified variants in BRCA genes: Guidelines for interpretation. Ann Oncol 22:i18–i23, 2011 (suppl 1)
42. Ludman EJ, Fullerton SM, Spangler L, et al: Glad you asked: Participants’ opinions of r-consent for dbGap data submission. J Empir Res Hum Res Ethics 5:9-16, 2010
43. Kaye J: The tension between data sharing and the protection of privacy in genomics research. Annu Rev Genomics Hum Genet 13:415-431, 2012
44. Johnson AD, Leslie R, O’Donnell CJ: Temporal trends in results availability from genome-wide association studies. PLoS Genet 7:e1002269, 2011
45. Pleasance ED, Stephens PJ, O’Meara S, et al: A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463:184-190, 2010
46. Pleasance ED, Cheetham RK, Stephens PJ, et al: A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463:191-196, 2010
47. Homer N, Szelinger S, Redman M, et al: Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet 4:e1000167, 2008
48. Im HK, Gamazon ER, Nicolae DL, et al: On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. Am J Hum Genet 90:591-598, 2012
49. Sankararaman S, Obozinski G, Jordan MI, et al: Genomic privacy and limits of individual detection in a pool. Nat Genet 41:965-967, 2009
50. Jacobs KB, Yeager M, Wacholder S, et al: A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. Nat Genet 41:1253-1257, 2009
51. Visscher PM, Hill WG: The limits of individual identification from sample allele frequencies: Theory and statistical analysis. PLoS Genet 5:e1000628, 2009
52. Gitter DM: The challenges of achieving open-source sharing of Biobank data. Biotechnology Law Report 29:623-635, 2010
53. Pullman D, Etchegary H, Gallagher K, et al: Personal privacy, public benefits, and biobanks: A conjoint analysis of policy priorities and public perceptions. Genet Med 14:229-235, 2012
54. Kaufman DJ, Murphy-Bollinger J, Scott J, et al: Public opinion about the importance of privacy in biobank research. Am J Hum Genet 85:643-654, 2009
55. McGuire AL, Hamilton JA, Lunstroth R, et al: DNA data sharing: Research participants’ perspectives. Genet Med 10:46-53, 2008
56. Godard B, Hurlimann T, Letendre M, et al: Guidelines for disclosing genetic information to family members: From development to use. Fam Cancer 5:103-116, 2006
57. Pate v Threlkel. 661 So2d 278 (Fla 1995), 1995
58. Safer v Estate of Pack. 677 A2d 1188 (NJ Super Ct App Div 1996), 1996
59. Molloy v Meier. 679 NW 2d 711 (Minn. 2004), 2004
60. [No authors listed]: ASHG statement: Professional disclosure of familial genetic information—The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am J Hum Genet 62:474-483, 1998
61. American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406, 2003
62. Robson ME, Storm CD, Weitzel J, et al: American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901, 2010
63. Falk MJ, Dugan RB, O’Riordan MA, et al: Medical Geneticists’ duty to warn at-risk relatives for genetic disease. Am J Med Genet A 120A:374-380, 2003
64. Feldman EA: The Genetic Information Nondiscrimination Act (GINA): Public Policy and Medical Practice in the Age of Personalized Medicine. J Gen Intern Med 2012. ssrn.com/abstract2007233
65. Council of Europe: Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes: Article 4—Non-discrimination and non-stigmatisation. Strasbourg 27.XI. 2008