This is the first report to examine willingness to pay for susceptibility gene testing in participants who had actually undergone such testing. Even though this population was restricted to first-degree relatives of AD patients who had volunteered for a study in which they received AD risk assessment and were therefore highly motivated, 71% reported that they would ask for such testing from their doctor if it were covered by health insurance, and 60% would ask for it if it required self-pay. However, 29% of participants probably or definitely would not want testing in a doctor's office if health insurance covered the cost of the test. Participants with higher education and those who had learned that they were APOE
4 positive were less willing to endorse a scenario wherein insurance covered their testing. These patients may be more aware of the potential negative implications of sharing genetic information with a health insurance company. Anecdotal comments from participants suggested that insurance and employment discrimination were on their minds, and this interpretation is consistent with other studies of genetic testing. For example, in a study of eligible participants who declined BRCA testing for breast cancer risk, more than half cited cost concerns and insurance discrimination as the major reasons for doing so (Peterson et al
Predictors for whether or not participants would self-pay for genetic testing were greater desire to know about such risk and greater concern about developing AD, suggesting that willingness to self-pay was associated with information seeking and fear of developing the disease. Over 40% of participants were willing to pay more than $100 for the APOE susceptibility test, with a significant proportion willing to pay $500 or more and 5.8% willing to pay $1000 or more. This is particularly significant given that personal genome services currently provide panels of multiple tests within this price range. Of note, those with negative APOE status were also willing to pay a greater amount, perhaps because even probabilistic reassurance is valuable. Those with a strong desire to find out their chances of developing AD and those with higher incomes were more likely to pay a higher amount, and to pay out-of-pocket, for this test.
In this study, all participants had volunteered to receive APOE genotyping as part of the research study and had actually received their genotype and risk assessment before they were queried about willingness to pay. Thus, this represents an unusually motivated group of individuals. Yet, the study is distinctive in that all participants underwent a standardized education protocol about the limits of the susceptibility testing with APOE and the lack of available treatments for AD. The study therefore examines a situation in which the value of risk information is addressed, without concern that the participants may have misunderstood the predictive accuracy of the test, or have been misinformed about medical treatments that could alter their risk of AD. Those participants who endorsed a willingness to pay larger amounts truly valued the information itself, rather than its potential to improve their health.
Limitations of our study include small sample size and homogeneity of subjects in terms of family history, education, gender, insurance status, and higher income. Subjects' WTP was not assessed at baseline, but only after receiving their APOE
results. Subject reports of WTP for services in our survey may not correlate with actual behavior in the marketplace. Willingness to pay as a research tool is also not without controversy, particularly in terms of different methods of data collection. Some argue that in-person interview is more accurate than a mailed survey (Olsen, 2001
). Another area of debate is whether open-ended questions or a pay scale format is more effective (Frew et al
). Range bias can also exist with use of the payment scale (Whynes et al
). Our study focuses on only one specific disease. It is not clear whether these results could be generalized to other diseases.
Why do participants apparently value genetic testing results that are neither definitive nor actionable? In hypothetical scenarios reported by Neumann et al.
, subjects reported that their motives included financial planning and creation of advance directives (Neumann et al
), and that if faced with positive but untreatable results, they would both consult with their medical practitioners and make changes in their personal lives. In prior analyses of data from the REVEAL Study, we found that participants cited numerous motivations for seeking APOE
testing, many of which were not related to informing treatment or prevention. For example, participants stressed planning for the future and preparing family members for the possibility of AD (Roberts et al
). In a related study, we found that
4+ participants were significantly more likely than their
4- counterparts to report making changes in long-term care insurance (Zick et al
The findings in our study underscore in specific monetary terms that some participants may find valuable personal utility in genetic risk information even when such information does not have proven clinical utility.