Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment

Abstract

This study explored individuals' preferences for genetic testing for colorectal cancer (CRC) in a screening situation and their willingness to participate in genetic testing for Lynch syndrome, familial adenomatous polyposis (FAP), and familial colorectal cancer (FCC). For that purpose, 532 respondents aged 55-65 years completed a Discrete Choice Experiment. Using panel latent class models, the preferences for two screening situation characteristics (the probability of being genetically predisposed and the probability of developing CRC) and screening test characteristics (the frequency of preventive colonoscopies and CRC survival) were estimated. Based on these preferences, respondents' willingness to participate in the three screening initiatives was estimated. Lower-educated respondents and respondents who express serious anxiety and worries found colonoscopy frequency and the probability of developing CRC relatively more important and survival relatively less important compared with highereducated respondents and respondents who express no anxiety and worries. These differences in preferences resulted in opposite preferences for participation in FCC and FAP screening. In conclusion, the general population is willing to participate in genetic screening for CRC. If individuals are suspected of genetic or familial CRC, they should at least be informed about their increased risk of being genetically predisposed and about the importance of participating in all preventive follow-up colonoscopies in order to maximize survival.

Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment

“…Limited evidence exists on preferences for genetic testing to identify Mendelian CRC risk and our study is the first to explore patients’ preferences for MPS genetic testing. Efforts to date have focused on the general population perspective in the context of population-based screening programs, with researchers concluding that the public is willing to undergo screening, but that choices vary depending on prior experience with genetic testing and anxiety about being genetically predispos1ed to developing CRC [ 18 ]. These results align with our findings indicating that while, on average, patients value information on genetic causes of CRC, significant heterogeneity is present in the sample.…”

“…This utility may be partially offset by direct and indirect costs of genetic testing, including adverse impacts of testing. Past studies eliciting preferences for genetic testing in the context of CRC focused on the general population, who consider personal utility and trade-offs differently from patients when valuing testing [ 4 , 18 ]. Patients’ personal utility for information on genetic causes of CRC and preferences for MPS testing of Mendelian CRC risk are currently unknown.…”

Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality

“…In addition to many important ethical and legal hurdles, attainment of genetic information requires a willingness of the population to participate. Although there is a strong public support for genetic testing for health purposes (for instance 89.1% of participants in a Dutch online panel survey of 55-59-year-olds reported they would take part in genetic screening for colorectal cancer 19 ), it is unknown how the offer of genetic testing for screening purposes may affect participation. Assuming eligibility under a genetics-based program would revert to being judged based on age risk for those who refuse to participate in genetic testing, a proportion of those eligible based on their genetic risk for age would, in reality, not be screened, and a proportion of those ineligible based on their genetic risk for age would, in reality, be screened.…”

Integrating personalised genomics into risk stratification models of population screening for colorectal cancer

“…Risk stratification and personalised surveillance could substantially increase the detection rate and earlier detection for cancers in younger individuals (especially for those under 50 years of age and therefore not eligible for the NBCSP), reduce the number of investigations for false‐positive results, reduce the harm due to overuse of diagnostic or invasive treatments so that resources can be allocated to those who would benefit most from more regular surveillance 13 . Furthermore, it has been suggested that personalised risk stratification could improve compliance with population CRC screening strategies 16 …”