Skip to main content
Top
Published in: Familial Cancer 4/2014

01-12-2014 | Original Article

“It’s all very well reading the letters in the genome, but it’s a long way to being able to write”: Men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer

Authors: Elizabeth K. Bancroft, Elena Castro, Audrey Ardern-Jones, Clare Moynihan, Elizabeth Page, Natalie Taylor, Rosalind A. Eeles, Emma Rowley, Karen Cox

Published in: Familial Cancer | Issue 4/2014

Login to get access

Abstract

A family history of prostate cancer (PC) is one of the main risk factors for the disease. A number of common single nucleotide polymorphisms (SNPs) that confer small but cumulatively substantial risks of PC have been identified, opening the possibility for the use of SNPs in PC risk stratification for targeted screening and prevention in the future. The objective of this study was to explore the psychosocial impact of receiving information about genetic risk of PC. The participants were men who had a family history of PC and were enrolled in a screening study providing research genetic profiling alongside screening for PC. A combination of questionnaires and in-depth interviews were used. Questionnaires were completed by men at two time points: both before and after joining the study and going through the genetic profiling process. The interviews were completed after all study process were complete and were analysed using a framework analysis. In total 95 men completed both questionnaires and 26 men were interviewed. A number of issues facing men at risk of PC were identified. The results fell into two main categories: personal relevance and societal relevance. The strength of men’s innate beliefs about their risk, shaped by genetic and environmental assumptions, outweigh the information provided by genetic testing. Men felt genetic profile results would have future use for accessing prostate screening, being aware of symptoms and in communicating with others. The findings reinforce the importance of providing contextual information alongside genetic profiling test results, and emphasises the importance of the counselling process in providing genetic risk information. This research raises some key issues to facilitate clinical practice and future research related to the use of genetic profiling to determine risk of PC and other diseases.
Literature
1.
go back to reference Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K (2000) Environmental and heritable factors in the causation of cancer: analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343(2):78–85PubMedCrossRef Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K (2000) Environmental and heritable factors in the causation of cancer: analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343(2):78–85PubMedCrossRef
2.
go back to reference Human Genomics Strategy Group (2012) Building on our inheritance: genomic technology in healthcare. The Department of Health. www.dh.gov.uk. Accessed 4 Oct 2012 Human Genomics Strategy Group (2012) Building on our inheritance: genomic technology in healthcare. The Department of Health. www.​dh.​gov.​uk. Accessed 4 Oct 2012
3.
go back to reference Department of Health (2003) Our inheritance, our future: realising the potential of genetics in the NHS. Department of Health, London Department of Health (2003) Our inheritance, our future: realising the potential of genetics in the NHS. Department of Health, London
4.
go back to reference Goh CL, Schumacher FR, Easton D, Muir K, Henderson B, Kote-Jarai Z, Eeles RA (2012) Genetic variants associated with predisposition to prostate cancer and potential clinical implications. J Int Med 271(4):353–365CrossRef Goh CL, Schumacher FR, Easton D, Muir K, Henderson B, Kote-Jarai Z, Eeles RA (2012) Genetic variants associated with predisposition to prostate cancer and potential clinical implications. J Int Med 271(4):353–365CrossRef
6.
go back to reference Zheng SL, Sun J, Wiklund F, Smith S, Stattin P, Li G, Adami HO, Hsu FC, Zhu Y, Bälter K, Kader AK, Turner AR, Liu W, Bleecker ER, Meyers DA, Duggan D, Carpten JD, Chang BL, Isaacs WB, Xu J, Grönberg H (2007) Cumulative association of five genetic variants with prostate cancer. N Engl J Med 358:910–919CrossRef Zheng SL, Sun J, Wiklund F, Smith S, Stattin P, Li G, Adami HO, Hsu FC, Zhu Y, Bälter K, Kader AK, Turner AR, Liu W, Bleecker ER, Meyers DA, Duggan D, Carpten JD, Chang BL, Isaacs WB, Xu J, Grönberg H (2007) Cumulative association of five genetic variants with prostate cancer. N Engl J Med 358:910–919CrossRef
7.
go back to reference Eeles R, Goh C, Castro E, Bancroft E, Guy M, Olama AA, Easton D, Kote-Jarai Z (2014) The genetic epidemiology of prostate cancer and its clinical implications. Nat Rev Urol 11(1):18–31PubMedCrossRef Eeles R, Goh C, Castro E, Bancroft E, Guy M, Olama AA, Easton D, Kote-Jarai Z (2014) The genetic epidemiology of prostate cancer and its clinical implications. Nat Rev Urol 11(1):18–31PubMedCrossRef
8.
go back to reference Antoniou AC, Easton DF (2006) Models of genetic susceptibility to breast cancer. Oncogene 25(43):5898–5905PubMedCrossRef Antoniou AC, Easton DF (2006) Models of genetic susceptibility to breast cancer. Oncogene 25(43):5898–5905PubMedCrossRef
9.
go back to reference Pharoah PD, Antoniou AC, Easton DF, Ponder BA (2008) Polygenes, risk prediction, and targeted prevention of breast cancer. N Eng J Med 358(26):2796–2803CrossRef Pharoah PD, Antoniou AC, Easton DF, Ponder BA (2008) Polygenes, risk prediction, and targeted prevention of breast cancer. N Eng J Med 358(26):2796–2803CrossRef
10.
go back to reference Lango H, Weedon MN (2008) What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? J Intern Med 263(1):16–27PubMedCrossRef Lango H, Weedon MN (2008) What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? J Intern Med 263(1):16–27PubMedCrossRef
11.
go back to reference Lerman C, Shields AE (2004) Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer 4(3):235–241PubMedCrossRef Lerman C, Shields AE (2004) Genetic testing for cancer susceptibility: the promise and the pitfalls. Nat Rev Cancer 4(3):235–241PubMedCrossRef
12.
go back to reference Eeles RA (2004) Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 2(4):283–290CrossRef Eeles RA (2004) Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res 2(4):283–290CrossRef
13.
go back to reference Hallowell N, Foster C, Eeles R, Ardern-Jones A, Murday V, Watson M (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29(2):74–79PubMedCentralPubMedCrossRef Hallowell N, Foster C, Eeles R, Ardern-Jones A, Murday V, Watson M (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29(2):74–79PubMedCentralPubMedCrossRef
14.
go back to reference Lerman C, Croyle RT, Tercyak KP, Hamann H (2002) Genetic testing: psychological aspects and implications. J Consul Clin Psychol 70(3):784–797CrossRef Lerman C, Croyle RT, Tercyak KP, Hamann H (2002) Genetic testing: psychological aspects and implications. J Consul Clin Psychol 70(3):784–797CrossRef
15.
go back to reference Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, Brown J, Tucker K (2002) Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 38(15):2025–2031PubMedCrossRef Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, Brown J, Tucker K (2002) Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 38(15):2025–2031PubMedCrossRef
16.
go back to reference Davison C, Macintyre S, Smith GD (1994) The potential social impact of predictive genetic testing for susceptibility to common chronic diseases: a review and proposed research agenda. Sociol Health Illn 16(3):340–371PubMedCrossRef Davison C, Macintyre S, Smith GD (1994) The potential social impact of predictive genetic testing for susceptibility to common chronic diseases: a review and proposed research agenda. Sociol Health Illn 16(3):340–371PubMedCrossRef
17.
go back to reference Hunter DJ, Khoury MJ, Drazen JM (2008) Letting the genome out of the bottle—‘will we get our wish? N Engl J Med 358(2):105–107PubMedCrossRef Hunter DJ, Khoury MJ, Drazen JM (2008) Letting the genome out of the bottle—‘will we get our wish? N Engl J Med 358(2):105–107PubMedCrossRef
19.
go back to reference Javitt GH, Hudson K (2007) The right prescription for personalized genetic medicine. Personal Med 4(2):115–118CrossRef Javitt GH, Hudson K (2007) The right prescription for personalized genetic medicine. Personal Med 4(2):115–118CrossRef
20.
go back to reference Leighton JW, Valverde K, Bernhardt BA (2012) The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genomic 15(1):11–21CrossRef Leighton JW, Valverde K, Bernhardt BA (2012) The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genomic 15(1):11–21CrossRef
21.
go back to reference Burke Johnson R, Onwuegbuzie AJ, Turner LA (2007) Toward a definition of mixed methods research. J Mix Methods Res 1:112–133CrossRef Burke Johnson R, Onwuegbuzie AJ, Turner LA (2007) Toward a definition of mixed methods research. J Mix Methods Res 1:112–133CrossRef
23.
go back to reference Glaser BG, Strauss AL (1967) The discovery of grounded theory. Aldine, Chicago Glaser BG, Strauss AL (1967) The discovery of grounded theory. Aldine, Chicago
24.
go back to reference Ritchie J, Lewis J (2003) Qualitative research practice. Sage, London Ritchie J, Lewis J (2003) Qualitative research practice. Sage, London
25.
go back to reference Ritchie J, Spencer L (1994) Qualitative data analysis for applied policy research. In: Bryman A, Burgess G (eds) Analyzing qualitative data. Routledge, London, pp 173–194CrossRef Ritchie J, Spencer L (1994) Qualitative data analysis for applied policy research. In: Bryman A, Burgess G (eds) Analyzing qualitative data. Routledge, London, pp 173–194CrossRef
26.
go back to reference Bryman A, Burgess RG (eds) (1996) Analysing qualitative data. Routledge, London Bryman A, Burgess RG (eds) (1996) Analysing qualitative data. Routledge, London
27.
go back to reference Henneman L, Timmermans DR, Bouwman CM, Cornel MC, Meijers-Heijboer H (2011) A low risk is still a risk: exploring women’s attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention. Public Health Genomic 14(4–5):238–247CrossRef Henneman L, Timmermans DR, Bouwman CM, Cornel MC, Meijers-Heijboer H (2011) A low risk is still a risk: exploring women’s attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention. Public Health Genomic 14(4–5):238–247CrossRef
28.
go back to reference Graves KD, Peshkin BN, Luta G, Tuong W, Schwartz MD (2011) Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics 14(3):178–189PubMedCentralPubMedCrossRef Graves KD, Peshkin BN, Luta G, Tuong W, Schwartz MD (2011) Interest in genetic testing for modest changes in breast cancer risk: implications for SNP testing. Public Health Genomics 14(3):178–189PubMedCentralPubMedCrossRef
29.
go back to reference Kelly K, Leventhal H, Andrykowski M, Toppmeyer D, Much J, Dermody J, Marvin M, Baran J, Schwalb M (2005) Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations. Psycho-oncology 14:34–48PubMedCrossRef Kelly K, Leventhal H, Andrykowski M, Toppmeyer D, Much J, Dermody J, Marvin M, Baran J, Schwalb M (2005) Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations. Psycho-oncology 14:34–48PubMedCrossRef
30.
go back to reference Slovic P, Finucane ML, Peters E, MacGregor DG (2004) Risk as analysis and risk as feelings: some thoughts about affect, reason, risk, and rationality. Risk Anal 24(2):311–322PubMedCrossRef Slovic P, Finucane ML, Peters E, MacGregor DG (2004) Risk as analysis and risk as feelings: some thoughts about affect, reason, risk, and rationality. Risk Anal 24(2):311–322PubMedCrossRef
31.
go back to reference Eeles R, Goh C, Castro E, Bancroft E, Guy M, Al Olama AA, Easton D, Kote-Jarai Z (2014) The genetic epidemiology of prostate cancer and its clinical implications. Nat Rev Urol 11(1):18–31PubMedCrossRef Eeles R, Goh C, Castro E, Bancroft E, Guy M, Al Olama AA, Easton D, Kote-Jarai Z (2014) The genetic epidemiology of prostate cancer and its clinical implications. Nat Rev Urol 11(1):18–31PubMedCrossRef
32.
go back to reference Andriole GL, Crawford ED, Grubb RL 3rd, Buys SS, Chia D, Church TR, Fouad MN, Isaacs C, Kvale PA, Reding DJ, Weissfeld JL, Yokochi LA, O’Brien B, Ragard LR, Clapp JD, Rathmell JM, Riley TL, Hsing AW, Izmirlian G, Pinsky PF, Kramer BS, Miller AB, Gohagan JK, Prorok PC (2012) Prostate cancer screening in the randomized Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial: mortality results after 13 years of follow-up. J Natl Cancer Inst 104:125–132PubMedCentralPubMedCrossRef Andriole GL, Crawford ED, Grubb RL 3rd, Buys SS, Chia D, Church TR, Fouad MN, Isaacs C, Kvale PA, Reding DJ, Weissfeld JL, Yokochi LA, O’Brien B, Ragard LR, Clapp JD, Rathmell JM, Riley TL, Hsing AW, Izmirlian G, Pinsky PF, Kramer BS, Miller AB, Gohagan JK, Prorok PC (2012) Prostate cancer screening in the randomized Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial: mortality results after 13 years of follow-up. J Natl Cancer Inst 104:125–132PubMedCentralPubMedCrossRef
33.
go back to reference Schroder FH, Hugosson J, Roobol MJ, Tammela TL, Ciatto S, Nelen V, Kwiatkowski M, Lujan M, Lilja H, Zappa M, Denis LJ, Recker F, Páez A, Määttänen L, Bangma CH, Aus G, Carlsson S, Villers A, Rebillard X, van der Kwast T, Kujala PM, Blijenberg BG, Stenman UH, Huber A, Taari K, Hakama M, Moss SM, de Koning HJ, Auvinen A, ERSPC Investigators (2012) Prostate-cancer mortality at 11 years of follow-up. N Engl J Med 366:981–990PubMedCrossRef Schroder FH, Hugosson J, Roobol MJ, Tammela TL, Ciatto S, Nelen V, Kwiatkowski M, Lujan M, Lilja H, Zappa M, Denis LJ, Recker F, Páez A, Määttänen L, Bangma CH, Aus G, Carlsson S, Villers A, Rebillard X, van der Kwast T, Kujala PM, Blijenberg BG, Stenman UH, Huber A, Taari K, Hakama M, Moss SM, de Koning HJ, Auvinen A, ERSPC Investigators (2012) Prostate-cancer mortality at 11 years of follow-up. N Engl J Med 366:981–990PubMedCrossRef
34.
go back to reference Catalona WJ, Antenor JA, Roehl KA, Moul JW (2002) Screening for prostate cancer in high risk populations. J Urol 168:1980–1983PubMedCrossRef Catalona WJ, Antenor JA, Roehl KA, Moul JW (2002) Screening for prostate cancer in high risk populations. J Urol 168:1980–1983PubMedCrossRef
35.
go back to reference Mäkinen T, Tammela TL, Stenman UH, Määttänen L, Rannikko S, Aro J, Juusela H, Hakama M, Auvinen A (2002) Family history and prostate cancer screening with prostate-specific antigen. J Clin Oncol 20:2658–2663PubMedCrossRef Mäkinen T, Tammela TL, Stenman UH, Määttänen L, Rannikko S, Aro J, Juusela H, Hakama M, Auvinen A (2002) Family history and prostate cancer screening with prostate-specific antigen. J Clin Oncol 20:2658–2663PubMedCrossRef
36.
go back to reference Valeri A, Cormier L, Moineau MP, Cancel-Tassin G, Azzouzi R, Doucet L, Baschet F, Cussenot I, L’Her J, Berthon P, Mangin P, Cussenot O, Morin JF, Fournier G (2002) Targeted screening for prostate cancer in high risk families: early onset is a significant risk factor for disease in first degree relatives. J Urol 168:483–487PubMedCrossRef Valeri A, Cormier L, Moineau MP, Cancel-Tassin G, Azzouzi R, Doucet L, Baschet F, Cussenot I, L’Her J, Berthon P, Mangin P, Cussenot O, Morin JF, Fournier G (2002) Targeted screening for prostate cancer in high risk families: early onset is a significant risk factor for disease in first degree relatives. J Urol 168:483–487PubMedCrossRef
37.
go back to reference Stewart A, Brice P, Burton H, Pharoah P, Sanderson S, Zimmern R (2007) Genetics, health care and public policy. Cambridge University Press, Cambridge Stewart A, Brice P, Burton H, Pharoah P, Sanderson S, Zimmern R (2007) Genetics, health care and public policy. Cambridge University Press, Cambridge
38.
go back to reference Pashayan N, Pharoah P (2011) Translating genomics into improved population screening: hype or hope? Hum Genet 130(1):19–21PubMedCrossRef Pashayan N, Pharoah P (2011) Translating genomics into improved population screening: hype or hope? Hum Genet 130(1):19–21PubMedCrossRef
39.
go back to reference Pashayan N, Duffy SW, Chowdhury S, Dent T, Burton H, Neal DE, Easton DF, Eeles R, Pharoah P (2011) Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer 104(10):1656–1663PubMedCentralPubMedCrossRef Pashayan N, Duffy SW, Chowdhury S, Dent T, Burton H, Neal DE, Easton DF, Eeles R, Pharoah P (2011) Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Br J Cancer 104(10):1656–1663PubMedCentralPubMedCrossRef
40.
go back to reference Shiloh S (2006) Illness representations, self-regulation, and genetic counseling: a theoretical review. J Genet Couns 15(5):325–337PubMedCrossRef Shiloh S (2006) Illness representations, self-regulation, and genetic counseling: a theoretical review. J Genet Couns 15(5):325–337PubMedCrossRef
41.
go back to reference Leventhal H, Benyamini Y, Brownlee S, Deifenbach M, Leventhal EA, Patrick-Miller L, Robitaille C (1997) Illness representation: theoretical foundations. In: Weinman J, Petrie K (eds) Perceptions of health and illness. Harwood, London, pp 155–188 Leventhal H, Benyamini Y, Brownlee S, Deifenbach M, Leventhal EA, Patrick-Miller L, Robitaille C (1997) Illness representation: theoretical foundations. In: Weinman J, Petrie K (eds) Perceptions of health and illness. Harwood, London, pp 155–188
42.
go back to reference Courtenay WH (2000) Constructions of masculinity and their influence on men’s well-being: a theory of gender and health. Soc Sci Med 50(10):1385–1401PubMedCrossRef Courtenay WH (2000) Constructions of masculinity and their influence on men’s well-being: a theory of gender and health. Soc Sci Med 50(10):1385–1401PubMedCrossRef
44.
go back to reference US Secretary’s Advisory Committee on Genetics, Health and Society (2010) Draft Report on genetics education and training, Bethesda, MD. http://oba.od.nih.gov Accessed 02 May 2013 US Secretary’s Advisory Committee on Genetics, Health and Society (2010) Draft Report on genetics education and training, Bethesda, MD. http://​oba.​od.​nih.​gov Accessed 02 May 2013
45.
go back to reference Rogowski WH, Grosse SD, Khoury MJ (2009) Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 10:489–495PubMedCrossRef Rogowski WH, Grosse SD, Khoury MJ (2009) Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet 10:489–495PubMedCrossRef
Metadata
Title
“It’s all very well reading the letters in the genome, but it’s a long way to being able to write”: Men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer
Authors
Elizabeth K. Bancroft
Elena Castro
Audrey Ardern-Jones
Clare Moynihan
Elizabeth Page
Natalie Taylor
Rosalind A. Eeles
Emma Rowley
Karen Cox
Publication date
01-12-2014
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 4/2014
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-014-9734-3

Other articles of this Issue 4/2014

Familial Cancer 4/2014 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine