Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing

Journal of Genetic Counseling

Volumn 23, Issue 4, 2014, Pages 539-551

  Hitch, Kelly ^a,e   Joseph, Galen ^b   Guiltinan, Jenna ^a,d   Kianmahd, Jessica ^c   Youngblom, Janey ^a   Blanco, Amie ^b  

^a CALIFORNIA STATE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d AMBRY GENETICS   (United States)

^e NONE   (United States)

Author keywords

Genetic counseling practice; Patient preferences; Return of results; Whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; AGED; EXOME; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MALE; MIDDLE AGED; PATIENT PREFERENCE; SEQUENCE ANALYSIS; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; EXOME; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; PATIENT PREFERENCE; SEQUENCE ANALYSIS; YOUNG ADULT;

EID: 84904266922     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-014-9687-6     Document Type: Article

References (48)

1. Aktan-Collan, K.; Mecklin, J. P.; Jarvinen, H.; Nystrom-Lahti, M.; Peltomaki, P.; Soderling, I.; et al. (2000). Predictive genetic testing for hereditary non-polyposis colorectal cancer: Uptake and long-term satisfaction. Internal Journal of Cancer, 89(1), 44-50.
2. Ambry Genetics. (2012). Exome test requisition, preverification, & consent form - proband. Retrieved from http://www.ambrygen.com/sites/default/ files/pdfs/forms/Exome-Req-Consent.pdf.
3. ACMG Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genetics in Medicine, 14(8), 759-761. doi: 10.1038/gim.2012.74.
4. Bamshad, M. J.; Ng, S. B.; Bigham, A. W.; Tabor, H. K.; Emond, M. J.; Nickerson, D. A.; et al. (2011). Exome sequencing as a tool for mendelian disease gene discovery. Nature Reviews Genetics, 12, 745-754. doi: 10.1038/nrg3031.
5. Bandura, A. (1982). Self-efficacy mechanism in human agency. American Psychologist, 37(2), 122-147. doi: 10.1037/0003-066X.37.2.122.
6. Baylor College of Medicine Medical Genetics Laboratories. (2013). WESrequisiton. Retrieved from https://www.bcm.edu/geneticlabs/index.cfm?PMID= 21320.
7. Berg, B. L. (2001). Qualitative research methods for the social sciences (4th ed.). Boston: Allyn and Bacon.
8. Berg, J. S.; Khoury, M. J.; Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge on bin at a time. Genetics in Medicine, 13(6), 499-505.
9. Bloss, C. S.; Ornowski, L.; Silver, E.; Cargil, M.; Vanier, V.; Schork, N. J.; et al. (2010). Consumer perceptions of direct-to-consumer personalized genomic risk assessments. Genetics in Medicine, 12(9), 556-566. doi: 10.1097/GIM.0b013e3181eb51c6.
10. Burt, R. W.; Cannon, J. A.; David, D. S.; Early, D. S.; Ford, J. M.; Giardiello, F. M.; et al. (2013). National Comprehensive Cancer Network (NCCN) clinical practice guidelines in oncology [Colorectal cancer screening]. Version 2.2013, NCCN.org.
11. Choi, M.; Scholl, U. I.; Ji, W.; Liu, T.; Tikhonova, I. R.; Zumbo, P.; et al. (2009). Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences. U.S.A.; 106, 19096-19101.
12. Dunning, D.; Johnson, K.; Ehrlinger, J.; Kruger, J. (2003). Why people fail to recognize their own incompetence. Current Directions in Psychological Science, 12(3), 83-87. doi: 10.1111/1467-8721.01235.
13. Emory Genetics Laboratory (2012). EmExome Requisition and Consent Form. Retrieved from http://genetics.emory.edu/egl/reqform/standard/exome.php.
14. Evans, J. P.; Burke, W.; Khoury, M. (2010). The rules remain the same for genomic medicine: The case against "reverse genetic exceptionalism." Genetics in Medicine, 12(6). doi: 10.1097/GIM.0b013e3181deb308.
15. Foster, M. W.; Mulvihill, J. J.; Sharp, R. R. (2009). Evaluating the utility of personal genomic information. Genetics in Medicine, 11(8), 570-574. doi: 10.1097/GIM.0b013e3181a2743e.
16. Gaff, C. L.; Bylund, C. L. (2010). Family communication about genetics: Theory and practice. New York: Oxford University Press.
17. Gould, W. A.; Heine, S. J. (2012). Implicit essentialism: genetic concepts are implicitly associated with fate concepts. PLoS One, 7(6), e38176. doi: 10.1371/journal.pone.0038176.
18. Green, R. C.; Berg, J. S.; Berry, G. T.; Biesecker, L. G.; Dimmock, D. P.; Evans, J. P.; et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405-410.
19. Green, R. C.; Berg, J. S.; Grody, W. W.; Kalia, S. S.; Korf, B. R.; Martin, C. L.; et. al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. American College of Medical Genetics and Genomics. Retrieved from http://www.acmg.net/docs/ACMG-Releases- Highly-Anticipated-Recommendations-on-Incidental-Findings-in-Clinical-Exome-and- Genome-Sequencing.pdf.
20. Grillo, E.; Lo Rizzo, C.; Bianciardi, L.; Bizzarri, V.; Baladassarri, M.; Spiga, O.; et al. (2013). Revealing the complexity of a monogenic disease: rett syndrome exome sequencing. PLoS One, 8(2), e56599. doi: 10.1371/journal.pone. 0056599.
21. Guiltinan, J. S.; Hitch, K.; Hechter, E.; Youngblom, J.; Blanco, A. (2013). Application of whole exome sequencing to mine for novel genes associated with Lynch syndrome. Unpublished manuscript.
22. Hadley, D. W.; Jenkins, J.; Dimond, E.; Nakahara, K.; Grogan, L.; Liewehr, D. J.; et al. (2003). Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Archives of Internal Medicine, 163(5), 573-582. doi: 10.1001/archinte.163.5.573.
23. Haimovich, A. D. (2011). Methods, challenges, and promise of next-generation sequencing in cancer biology. Yale Journal of Biology and Medicine, 84, 439-446.
24. Hsieh, H.; Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277-1288. doi: 10.1177/1049732305276687.
25. Jamal, S. M.; Yu, J. H.; Chong, J. X.; Dent, K. M.; Conta, J. H.; Tabor, H. K.; et al. (2013). Practices and policies of clinical exome sequencing providers: Analysis and implications. American Journal of Medical Genetics, 161(5), 935-950. doi: 10.1002/ajmg.a.35942.
26. Kruger, J.; Dunning, D. (1999). Unskilled and unaware of it: How difficulties in recognizing one's own incompetence lead to inflated self-assessments. Journal of Personality and Social Psychology, 77(6), 1121-1134. doi: 10.1037//0022-3514.77.6.1121.
27. Ku, C. S.; Cooper, D. N.; Iacopetta, B.; Roukos, D. H. (2012). Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clinical Genetics, 83(1), 2-6.
28. Lagerstedt-Robinson, K.; Liu, T.; Vandrovcova, J.; Halvarsson, B.; Clendenning, M.; Frebourg, T.; et al. (2007). Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. Journal of the National Cancer Institute, 99(4), 291-299. doi: 10.1093/jnci/djk051.
29. Lau, R. R. (1982). Origins of health locus of control beliefs. Journal of Personality and Social Psychology, 42(2), 322-334. doi: 10.1037//0022-3514.42. 2.322.
30. Lemke, A. A.; Bick, D.; Dimmock, D.; Simpson, P.; Veith, R. (2012). Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clinical Genetics, 1-7. doi: 10.1111/cge.12060.
31. Lindor, N. M.; Petersen, G. M.; Hadley, D. W.; Kinney, A. Y.; Miesfeldt, S.; Lu, K. H.; et al. (2006). Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. The Journal of the American Medical Association, 296(12), 1507-1517.
32. Majewski, J.; Schwartzentruber, J.; Lalonde, E.; Montpetit, A.; Jabado, N. (2011). What can exome sequencing do for you? Journal of Medical Genetics, 48, 580-589. doi: 10.1136/jmedgenet-2011-100223.
33. Murphy, J.; Scott, J.; Kaufman, D.; Geller, G.; LeRoy, L.; Hudson, K. (2008). Public Expectations for Return of Results from Large-Cohort Genetic Research. The American Journal of Bioethics, 8(11), 36-43. doi: 10.1080/15265160802513093.
34. Mvundura, M.; Grosse, S. D.; Hampel, H.; Palomaki, G. E. (2010). The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genetics in Medicine, 12(2), 93-104. doi: 10.1097/GIM.0b013e3181cd666c.
35. Ng, S. B.; Buckingham, K. J.; Lee, C.; Bigham, A. W.; Tabor, H. K.; Dent, K. M.; et al. (2010). Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics, 42(1), 30-35. doi: 10.1038/ng.499.
36. Park, C. L.; Gaffey, A. E. (2007). Relationships between psychosocial factors and health behavior change in cancer survivors: An integrative review. Annals of Behavioral Medicine, 34(2), 115-134. doi: 10.1007/BF02872667.
37. Parrott, R.; Smith, R. A. (2013). Defining genes using "blueprint" versus "instruction" metaphors: Effects for genetic determinism, response efficacy, and perceived control. Journal of Health Communication. doi: 10.1080/10410236.2012.729181.
38. Schneider, K. A. (2012). Counseling about cancer: Strategies for genetic counseling. Hoboken: Wiley-Blackwell.
39. Singleton, A. B. (2011). Exome sequencing: a transformative technology. Lancelet Neurology, 10, 942-946.
40. Shalowitz, D. I.; Miller, F. G. (2008). Communicating the results of clinical research to participants: Attitudes, practices, and future directions. Plos Medicine, 5(5), 714-720.
41. Sobel, S. K.; Cowan, D. B. (2000). Impact of genetic testing for Huntington's disease on the family system. American Journal of Medical Genetics, 90(1), 49-59.
42. Tabor, H. K.; Stock, J.; Brazg, T.; McMillin, M. J.; Dent, K. M.; Yu, J. H.; et al. (2012). Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits and harms. American Journal of Medical Genetics, 158(Part A), 1310-1319.
43. Townsend, A.; Adam, S.; Birch, P. H.; Lohn, Z.; Rosseau, F.; Friedman, J. M. (2012). "I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. American Journal of Medical Genetics, 158(Part A), 2519-2525.
44. Uhlmann, W. R.; Schuette, J. L.; Yashar, B. M. (2009). A guide to genetic counseling (2nd ed.). Hoboken: Wiley-Blackwell.
45. Vernon, S. W.; Gritz, E. R.; Peterson, S. K.; Perz, C. A.; Marani, S.; Amos, C. I.; et al. (1999). Intention to learn results of genetic testing for hereditary colon cancer. Cancer Epidemiology, Biomarkers & Prevention, 8, 353-360.
46. Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.
47. Worthey, E. A.; Mayer, A. N.; Syverson, G. D.; Helbling, D.; Bonacci, B. B.; Decker, B.; et al. (2011). Making a definitive diagnosis: Successful clinical application of WES in a child with intractable inflammatory bowel disease. Genetics in Medicine, 13(3), 255-262.
48. Yu, J. H.; Crouch, J.; Jarnal, S. M.; Tabor, H. K.; Bamshad, M. J. (2013). Attitudes of African Americans toward return of results from exome and whole genome sequencing. American Journal of Medical Genetics, 9999(Part A), 1-9.