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Perceived Versus Predicted Risks of Colorectal Cancer and Self-Reported Colonoscopies by Members of Mismatch Repair Gene Mutation-Carrying Families Who Have Declined Genetic Testing

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Journal of Genetic Counseling

Abstract

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using “MMRpro.” Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p < 0.001); this was independent of age and sex (p = 0.9). Among those reporting any medical advice and any screening colonoscopy (n = 18), those with higher risk perception had less frequent colonoscopy (Pearson’s r = 0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.

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Disclosure of Interest

This work was supported by the Victorian Cancer Agency under #EO109-33, National Cancer Institute, National Institutes of Health under RFA #CA-95-011, and through cooperative agreements with the Australasian Colorectal Cancer Family Registry (U01 CA097735). Mark Jenkins is supported as a Senior Research Fellow by the National Health & Medical Research Council, Australia. Driss Ait Ouakrim was supported by an Australian Commonwealth Scientific and Industrial Research Organisation PhD scholarship (CSIRO, Preventative Heath Flagship). Aung Ko Win is supported by a grant from the Cancer Council Victoria and the Picchi Brothers Foundation, Australia. Authors have full control of all primary data and agree to review if requested.

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Authors and Affiliations

  1. Centre for Molecular, Environmental, Genetic & Analytic Epidemiology, The University of Melbourne, Melbourne, VIC, 3010, Australia

    Louisa Flander, Andrew Speirs-Bridge, Alison Rutstein, Heather Niven, Aung Ko Win, Driss Ait Ouakrim, John L. Hopper & Mark Jenkins

  2. Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, VIC, 3050, Australia

    Finlay Macrae

  3. Centre for Women’s Health, Gender & Society, The University of Melbourne, Melbourne, VIC, 3010, Australia

    Louise Keogh

  4. Departments of Paediatrics & Medicine, The Royal Melbourne Hospital, Parkville, VIC, 3050, Australia

    Clara Gaff

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  1. Louisa Flander
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  2. Andrew Speirs-Bridge
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  3. Alison Rutstein
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  4. Heather Niven
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  5. Aung Ko Win
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  11. Mark Jenkins
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Correspondence to Louisa Flander.

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Flander, L., Speirs-Bridge, A., Rutstein, A. et al. Perceived Versus Predicted Risks of Colorectal Cancer and Self-Reported Colonoscopies by Members of Mismatch Repair Gene Mutation-Carrying Families Who Have Declined Genetic Testing. J Genet Counsel 23, 79–88 (2014). https://doi.org/10.1007/s10897-013-9614-2

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