Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

Abstract

Background/Aims: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services. Methods: Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results. Results: Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%). Among disease risks, heart disease (68% very interested), breast cancer (67%), and Alzheimer disease (66%) were of greatest interest prior to testing. Interest in disease risks was associated with female gender and poorer self-reported health (p < 0.01). Many consumers (38%) did not consider the possibility of unwanted information before purchasing services; this group was more likely to be older, male, and less educated (p < 0.05). After receiving results, 59% of respondents said test information would influence management of their health; 2% reported regret about seeking testing and 1% reported harm from results. Conclusion: DTC-PGT has attracted controversy because of the health-related information it provides, but nonmedical information is of equal or greater interest to consumers. Although many consumers did not fully consider potential risks prior to testing, DTC-PGT was generally perceived as useful in informing future health decisions.

Factors Associated with Acceptability, Consideration and Intention of Uptake of Direct-To-Consumer Genetic Testing: A Survey Study

“…This is consistent with other research on genetic testing, which generally showed lower interest in genetic testing among people who identified with a religion [20]. In contrast to previous research, we found no association with education [11,31] or gender [8,11,30].…”

“…These findings may both be explained through different perceived utility. Namely, it was found that actual DTC-GT users with poorer self-reported health [8] and members of the general population with serious disease in the family [20] perceived results as having lower utility. Third, identifying with a religion resulted in lower acceptability of DTC-GT.…”

“…This means that, primarily, complete and objective information provision is essential. However, although DTC-GT companies should feel morally obliged to provide this information, the majority of their websites were found to be misleading, overemphasising benefits and requiring high literacy [4,7,8]. Therefore, other stakeholders such as governmental authorities or the medical community should step in to ensure adequate pre-test education among others through the availability of high-quality, complete and objective information.…”

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

“…McClaren et al (2008) showed that potential consumers perceived carrier screening as “not in my world,” and were unlikely to request testing, unless offered by a healthcare professional or if they had a positive family history. Moreover, a study among users of DTC personal genomic testing showed that only one third of the responders was interested in obtaining carrier status information (Roberts et al 2017). The authors argue that this information may not be viewed as personally relevant, or users are unfamiliar with these tests compared to other types of genetic tests (e.g., tests to determine disease risks) (Roberts et al 2017).…”

Evidence-based medicine and big genomic data

“…Concurrently, BGD may be coupled also to large-scale information for environmental exposures and lifestyle (2). People may use BGD for health-related reasons in the context of healthcare delivery or on their own initiative via direct-to-consumer offerings (3). …”