Communication & Medicine, Vol 10, No 3 (2013)

On the limits of genetic responsibility: Communication and consent for tumour testing for Lynch syndrome

Hannah Elizabeth Shipman, Michael Arribas-Allyon, Alexandra Murray, Clara Louise Gaff
Issued Date: 22 May 2014

Abstract


Testing cancers for mismatch repair (MMR) gene defects assists selection of families for genetic testing for cancer predisposing Lynch syndrome. Performing MMR tumour testing without consent is debated, though little empirical work has been undertaken. We address this by examining the significance of testing for those who have consented without prior genetic counselling, particularly their ‘accounts’ of testing via displays of knowledge and responsibility. Semi-structured interviews were conducted with participants recruited from a UK genetics service. Participants had difficulties in formulating the benefits of testing when consent was facilitated by a relative or by mail. Discourse analysis revealed that in the absence of specific or accurate understandings of tumour testing, participants displayed responsibility towards themselves and others by generalising and diminishing the implications of testing. Within the framework of ‘genetic responsibility’, MMR tumour testing seems less important in participants’ accounts compared to more definitive genetic testing. If facilitating genetic knowledge and responsibility are goals of genetic testing then developing appropriate consent procedures for MMR tumour testing is an important consideration. Further research is required to differentiate whether genetic counselling is a precondition for enacting genetic responsibility or whether intrinsic differences between types of testing make the concept less relevant.

Download Media

PDF (Price: £17.50 )

DOI: 10.1558/cam.v10i3.225

References


Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., Meltzer, S. J., Rodriguez-Bigas, M. A., Fodde, R., Ranzani, G. N. and Srivastava, S. (1998) A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research 58 (22): 5248–5257.
Braun, V. and Clarke, V. (2006) Using thematic analysis in psychology. Qualitative Research in Psychology 3: 77–101. http://dx.doi.org/10.1191/1478088706qp063oa
Carlsson, C. and Nilbert, M. (2007) Living with hereditary non-polyposis colorectal cancer: Experiences from and impact of genetic testing. Journal of Genetic Counseling 16: 811–820. http://dx.doi.org/10.1007/s10897-007-9117-0
Clark, S., Bluman, L., Borstelmann, N., Regan, K., Winer, E., Rimer, B. and Sugg Skinner, C. (2000) Patient motivation, satisfaction and coping in genetic counseling and testing for BRCA1 and BRCA2. Journal of Genetic Counseling 9 (3): 219–235. http://dx.doi.org/10.1023/A:1009463905057
Cowley, L., McLaughlin, J., Finch, T., Clavering, E. and Burn, J. (2011) Genetic testing and research in Lynch syndrome – Is it a choice or a responsibility? Hereditary Cancer in Clinical Practice 9 (Suppl 1): P6. http://dx.doi.org/10.1186/1897-4287-9-S1-P6
d’Agincourt-Canning, L. (2001) Experiences of genetic risk: Disclosure and the gendering of responsibility. Bioethics 15 (3): 231–247. http://dx.doi.org/10.1111/1467-8519.00234
d’Agincourt-Canning, L. (2006) Genetic testing for hereditary breast and ovarian cancer: Responsibility and choice. Qualitative Health Research 16: 97–118. http://dx.doi.org/10.1177/1049732305284002
de Jong, A., Hendriks, Y., Kleibeuker, J., de Boer, S., Cats, A., Griffioen, G., Nagengast, F., Nelis, F., Rookus, M. and Vasen, F. (2006) Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 130 (3): 665–671. http://dx.doi.org/10.1053/j.gastro.2005.11.032
Downing, C. (2005) Negotiating responsibility: Case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. Journal of Genetic Counseling 14: 219–234. http://dx.doi.org/10.1007/s10897-005-0619-3
Etchegary, H., Miller, F., deLaat, S., Wilson, B., Carroll, J. and Cappelli, M. (2009) Decision-making about inherited cancer risk: Exploring dimensions of genetic responsibility. Journal of Genetic Counseling 18: 252–264. http://dx.doi.org/10.1007/s10897-009-9218-z
Evaluation of Genomic Applications in Practice and Prevention Working Group (2009) Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genetics in Medicine 11: 35–41. http://dx.doi.org/10.1097/GIM.0b013e31818fa2ff
Forrest, K., Simpson, S., Wilson, B., van Teijlingen, E., McKee, L., Haites, N. and Matthews, E. (2003) To tell or not to tell: Barriers and facilitators in family communication about genetic risk. Clinical Genetics 64: 317–326. http://dx.doi.org/10.1034/j.1399-0004.2003.00142.x
Foster, C., Watson, M., Moyhnihan, C., Ardern-Jones, A. and Eeles, R. (2002) Genetic testing for breast and ovarian cancer predisposition: Cancer burden and responsibility. Journal of Health Psychology 7 (4): 469–484. http://dx.doi.org/10.1177/1359105302007004627
Gaff, C. L., Rogers, M. T. and Frayling, I. M. (2006) Variability and inequity in testing of somatic tissue for hereditary cancer: A survey of UK clinical practice. Clinical Genetics 70: 312–319. http://dx.doi.org/10.1111/j.1399-0004.2006.00676.x
Gaff, C. L., Rogers, M. T. and Frayling, I. M. (2007) Genetic counselling and consent for tumour testing in HNPCC. Clinical Genetics 71: 400–405. http://dx.doi.org/10.1111/j.1399-0004.2007.00779.x
Hallowell, N. (1999) Doing the right thing: Genetic risk and responsibility. Sociology of Health and Illness 21 (5): 597–621. http://dx.doi.org/10.1111/1467-9566.00175
Hallowell, N., Foster, C., Eeles, R., Ardern-Jones, A., Murday, V. and Watson, M. (2003) Balancing autonomy and responsibility: The ethics of generating and disclosing genetic information. Journal of Medical Ethics 29 (2): 74–83. http://dx.doi.org/10.1136/jme.29.2.74
Hallowell, N., Foster, C., Eeles, R., Ardern-Jones, A. and Watson, M. (2004) Accommodating risk: Responses to BRCA1/2 genetic testing of women who have had cancer. Social Science and Medicine 59: 553–565. http://dx.doi.org/10.1016/j.socscimed.2003.11.025
Hallowell, N., Ardern-Jones, A., Eeles, R., Foster, C., Lucassen, A., Moynihan, C. and Watson, M. (2005) Men’s decision-making about predictive BRCA1/2 testing: The role of family. Journal of Genetic Counseling 14: 207–217. http://dx.doi.org/10.1007/s10897-005-0384-3
Hampel, H. and de la Chapelle, A. (2011) The search for unaffected individuals with Lynch syndrome: Do the ends justify the means? Cancer Prevention Research 4 (1): 1–5. http://dx.doi.org/10.1158/1940-6207.CAPR-10-0345
Hampel, H., Frankel, W., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., Nakagawa, H., Sotamaa, K., Prior, T., Westman, J., Panescu, J., Fix, D., Lockman, J., Comeras, I. and de la Chapelle, A. (2005) Screening for the Lynch syndrome (Hereditary nonpolyposis colorectal cancer). New England Journal of Medicine 352: 1851–1860. http://dx.doi.org/10.1056/NEJMoa043146
Hampel, H., Frankel, W., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., Clendenning, M., Sotamaa, K., Prior, T., Westman, J., Panescu, J., Fix, D., Lockman, J., LaJeunesse, J., Comeras, I. and de la Chapelle, A. (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. Journal of Clinical Oncology 26 (35): 5783–5788. http://dx.doi.org/10.1200/JCO.2008.17.5950
Hoeyer, K. (2004) Ambiguous gifts: Public anxiety, informed consent and biobanks. In R. Tutton and O. Corrigan (eds) Genetic Databases: Socio-ethical issues in the collection and use of DNA, 97–116. London: Routledge.
Järvinen, H., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L., Peltomäki, P., de la Chapelle, A. and Mecklin, J. (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118 (5): 829–834. http://dx.doi.org/10.1016/S0016-5085(00)70168-5
Kenen, R. (1994) The Human Genome Project: Creator of the potentially sick, potentially vulnerable and potentially stigmatized? In I. Robinson (ed.) Life and Death under High Technology Medicine, 49–64. Manchester: Manchester University Press.
Loughrey, M. B., Waring, P. M., Tan, A., Trivett, M., Kovalenko, S., Beshay, V., Young, M. A., McArthur, G., Boussioutas, A. and Dobrovic, A. (2007) Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Familial Cancer 6 (3): 301–310. http://dx.doi.org/10.1007/s10689-007-9124-1
Lupton, D. (1995) The imperative of health: Public health and the regulated body. London: Sage.
Müller, W., Burgart, L. J., Krause-Paulus, R., Thibodeau, S. N., Almeida, M., Edmonston, T. B., Boland, C. R., Sutter, C., Jass, J. R., Lindblom, A., Lubinski, J., MacDermot, K., Sanders, D. S., Morreau, H., Müller, A., Oliani, C., Orntoft, T., Ponz De Leon, M., Rosty, C., Rodriguez-Bigas, M., Rüschoff, J., Ruszkiewicz, A., Sabourin, J., Salovaara, R. and Möslein, G. and ICG-HNPCC (International Collaborative Group) (2001) The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC): Results of an international collaborative study. Familial Cancer 1 (2): 87–92. http://dx.doi.org/10.1023/A:1013840907881
Novas, C. and Rose, N. (2000) Genetic risk and the birth of the somatic individual. Economy and Society 29: 485–513. http://dx.doi.org/10.1080/03085140050174750
Peres, J. (2010) To screen or not to screen for Lynch syndrome. Journal of the National Cancer Institute 102 (18): 1382–1384. http://dx.doi.org/10.1093/jnci/djq372
Pérez-Carbonell, L., Ruiz-Ponte, C, Guarinos, C., Alenda, C., Payá, A., Brea, A., Egoavil, C., Castillejo, A., Barberá, V., Bessa, X., Xicola, R., Rodríguez-Soler, M., Sánchez-Fortún, C., Acame, N., Castellví-Bel, S., Piñol, V., Balaguer, F., Bujanda, L., De-Castro, M., Llor, X., Andreu, M., Carracedo, A., Soto, J., Castells, A. and Jover, R. (2012) Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 61 (6): 865–872. http://dx.doi.org/10.1136/gutjnl-2011-300041
Petersen, A. (1998) The new genetics and the politics of public health. Critical Public Health 8: 59–71. http://dx.doi.org/10.1080/09581599808409212
Ramsey, S., Wilson, S., Spencer, A., Geidzinska, A. and Newcomb, P. (2003) Attitudes towards genetic screening for predisposition to colon cancer among cancer patients, their relatives and members of the community. Community Genetics 6: 29–36. http://dx.doi.org/10.1159/000069543
Riley, B. D., Culver, J. O., Skrzynia, C., Senter, L. A., Peters, J. A., Costalas, J. W., Callif-Daley, F., Grumet, S. C., Hunt, K. S., Nagy, R. S., McKinnon, W. C., Petrucelli, N. M., Bennett, R. L. and Trepanier, A. M. (2012) Essential elements of genetic cancer risk assessment, counseling, and testing: Updated recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 21: 151–161. http://dx.doi.org/10.1007/s10897-011-9462-x
Royal College of Pathologists of Australia (2013) Consent for performing MSI or IHC screening for Lynch syndrome (HNPCC). http://www.rcpa.edu.au/Library/College-Policies/Position-Statements/Consent-for-performing-MSI-or-IHC-screening-for-Ly
Rubin, H. J. and Rubin, I. S. (2005) Qualitative Interviewing: The Art of Hearing Data. Thousand Oaks, CA: Sage.
Sarangi, S. (2010) Practising discourse analysis in healthcare settings. In I. Bourgeault, R. DeVries and R. Dingwall (eds) The SAGE Handbook of Qualitative Methods in Health Research, 397–416. London: Sage.
Sciallero, S. and Sobrero, A. (2010) Informed decisions regarding microsatellite instability testing: Need for an intention-to-screen analysis. Journal of Clinical Oncology 28 (28): e537. http://dx.doi.org/10.1200/JCO.2010.29.8703
Scott, M. and Lyman, S. (1968) Accounts. American Sociological Review 33 (1): 46–62. http://dx.doi.org/10.2307/2092239
Skirton, H. (1998) Telling the children. In A. Clarke (ed.) The Genetic Testing of Children, 103–111. Oxford: BIOS Scientific Publishers Ltd.
Southey, M., Jenkins, M., Mead, L., Whitty, J., Trivett, M., Tesoriero, A., Smith, L., Jennings, K., Grubb, G., Royce, S., Walsh, M., Barker, M., Young, J., Jass, J., St John, D., Macrae, F., Giles, G. and Hopper, J. L. (2005) Use of molecular tumor characteristics to prioritise mismatch repair gene testing in early onset colorectal cancer. Journal of Clinical Oncology 23 (27): 6524–6532. http://dx.doi.org/10.1200/JCO.2005.04.671
Vasen, H., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Engel, C., Frayling, I., Rahner, N., Hes, F., Hodgson, S., Mecklin, J., Møller, P., Myrhøj, T., Nagengast, F., Parc, Y., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, J., Stormorken, A., Tejpar, S., Thomas, H., Wijnen, J., Lubinski, J., Järvinen, H., Claes, E., Heinimann, K., Karagiannis, J., Lindblom, A., Dove-Edwin, I. and Müller, H. (2010) Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9: 109–115. http://dx.doi.org/10.1007/s10689-009-9291-3
Warner, B., Curnow, L., Polglase, A. and Debinski, H. (2006) Factors influencing uptake of genetic testing for colorectal cancer risk in an Australian Jewish population. Journal of Genetic Counseling 14 (5): 387–394. http://dx.doi.org/10.1007/s10897-005-1623-3

Refbacks

  • There are currently no refbacks.





Equinox Publishing Ltd - 415 The Workstation 15 Paternoster Row, Sheffield, S1 2BX United Kingdom
Telephone: +44 (0)114 221-0285 - Email: info@equinoxpub.com

Privacy Policy