Abstract
BackgroundTargeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. Despite the potential benefits, many eligible at-risk relatives remain uninformed of their cancer risk. This study describes the general public’s opinion on disclosure of hereditary colorectal cancer (CRC) risk information, as well as preferences on the source and the mode of information.MethodsA random sample of the general public was assessed through a Swedish citizen web-panel. Respondents were presented with scenarios of being an at-risk relative in a family that had an estimated increased hereditary risk of CRC; either 10% (moderate) or 70% (high) lifetime risk. A colonoscopy was presented as a preventive measure. Results were analysed to identify significant differences between groups using the Pearson’s chi-square (χ2) test.ResultsOf 1800 invited participants, 977 completed the survey (54%). In the moderate and high-risk scenarios, 89.2 and 90.6% respectively, would like to receive information about a potential hereditary risk of CRC (χ2, p = .755). The desire to be informed was higher among women (91.5%) than men (87.0%, χ2, p = .044). No significant differences were found when comparing different age groups, educational levels, place of residence and having children or not. The preferred source of risk information was a healthcare professional in both moderate and high-risk scenarios (80.1 and 75.5%). However, 18.1 and 20.1% respectively would prefer to be informed by a family member. Assuming that healthcare professionals disclosed the information, the favoured mode of information was letter and phone (38.4 and 33.2%).ConclusionsIn this study a majority of respondents wanted to be informed about a potential hereditary risk of CRC and preferred healthcare professionals to communicate this information. The two presented levels of CRC lifetime risk did not significantly affect the interest in being informed. Our data offer insights into the needs and preferences of the Swedish population, providing a rationale for developing complementary healthcare-assisted communication pathways to realise the full potential of targeted prevention of hereditary CRC.
Highlights
Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs
3% of colorectal cancer (CRC) cases are attributed to pathogenic variants in mismatch repair genes causing Lynch syndrome [2], resulting in up to 70% lifetime risk of developing CRC [3]
In this study we explore the general public’s opinion and interest in receiving, and disclosing hereditary CRC risk information
Summary
Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. Individuals with no detected pathogenic germline variant, but doubled CRC risk (familial CRC) are recommended colonoscopy surveillance. Regular colonoscopies offered to at-risk individuals have been reported to reduce CRC-related morbidity and mortality by 43–80% and 65–81% respectively [5]. In Sweden and most other countries, the prevailing practice is to encourage the proband (the first individual receiving genetic counselling in a family) to pass on information regarding cancer risk and preventive measures to their atrisk relatives [6]. Several factors have been identified as potential barriers to information spreading. These include conflicts within the family, unwillingness to upset others, selective informing, lack of information, misunderstandings and forgetfulness [8,9,10,11]
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