Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to which this is the case for sellers accessible to Dutch consumers has not previously been studied. Methods and Goals: The present study aimed to assess the completeness, balance, readability, and findability of informational content on a selection of websites from several health-related DTC-GT sellers accessible to Dutch consumers. An in-depth content analysis was performed based on a recently published checklist outlining key items for policy guidance regarding DTC-GT services. Results: The information provided by sellers did not equally cover all aspects relevant to health-related DTC-GT service provision. The provided information was slightly unbalanced, with benefits of health-related DTC-GT usage being overemphasized compared to its risks and limitations. The readability of the provided information was low, on average requiring college education for proper understanding. A findability analysis showed that information concerning all themes is overall relatively evenly distributed across analyzed sellers’ websites. Conclusions: Information provision by assessed health-related DTC-GT sellers is suboptimal regarding completeness, balance, and readability. To better empower potential consumers to make an informed decision regarding health-related DTC-GT usage, we advocate industry-wide enhancement of information provision.

Introduction: Qualitative insights into European citizens’ beliefs, expectations, attitudes, and factors relevant for decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT) are scarce. Assessment thereof is essential to eventually empower them for informed decision-making and responsible use regarding DTC-GT. Methods: Twenty semi-structured, in-person interviews were conducted with a cohort of sociodemographically diverse Dutch citizens. During the interview, participants viewed an informative video regarding DTC-GT to ensure baseline knowledge, and hypothetical company materials, including an estimated disease risk, to assess the reactions of citizens to such materials. Interviews were transcribed verbatim and thematically analyzed. Results: Participants were generally unaware of health-related DTC-GT prior to the interview invite. Participants expressed sizeable expectations across the entire DTC-GT consumer journey and demonstrated several recurring misconceptions. Participants also indicated distrust towards DTC-GT sellers and their practices and expressed dissatisfaction concerning the hypothetical results they received. Most participants indicated they would not be willing to undergo DTC-GT but provided argumentation and weight of each argument was unique to each participant, indicating unique decision-making processes. Price was an important modifying factor in participants’ decision-making. Participants suggested information provision by independent parties, development of quality marks, and implementation of enforceable regulation and legislation to support their decision-making. Conclusions: Participants’ expectations regarding health-related DTC-GT and towards DTC-GT sellers appear sizeable and decision-making very personal. Stimulating informed decision-making through enhancement of information provision, (social) media campaigns, education, development of quality marks, and implementation of enforceable regulation and legislation could aid in empowering citizens for responsible use of DTC-GT.

Insights into the perspectives, decision-making and experiences of non-US consumers regarding health-related direct-to-consumer genetic testing (DTC-GT) are currently lacking. These insights are essential to allow the implementation of consumer-tailored approaches that facilitate responsible use of DTC-GT. To fill this knowledge gap, the present study employed interviews to examine the consumer journeys of twenty Dutch health-related DTC-GT consumers. Overall, participants appeared quite satisfied with their DTC-GT consumer journeys. Participants’ initial contacts with DTC-GT, as well as their pre-test information acquisition, occurred via a diversity of sources. Participants’ pre-test expectations revealed considerable presumed clinical utility of DTC-GT. Feeling unheard within the regular healthcare system supported multiple participants’ decisions to undergo health-related DTC-GT. Participants mentioned a modifying effect of price on their decision-making, and several participants stated not having considered potential negative consequences of DTC-GT prior to DTC-GT usage. Several potentially adverse consequences of undergoing DTC-GT were identified that could affect individual consumers, the regular healthcare system, and society as a whole. Three considerations to potentially stimulate responsible use of DTC-GT aligning with participants’ needs and preferences were derived, namely improving pre-test information provision, implementing adequate post-test support systems for consumers, and development, implementation and enforcement of cross-border regulation and legislation. Based on these findings, we advocate for stakeholder discussions to further explore the feasibility and desirability of translating these considerations into deliverables. Ultimately, these deliverables could aid in empowering (potential) consumers for responsible use of health-related DTC-GT.

Genomic data plays an increasingly important role in clinical care, yet how it can be appropriately integrated into standard practice remains debated. One emerging approach is the opportunistic use of whole-exome sequencing (WES) data to offer pharmacogenetic (PGx) information. While initiatives providing PGx prescribing recommendations ahead of actual prescriptions are growing, little is known about how recipients of such information use it in practice or how it shapes their perceived roles and responsibilities. Using a mixed-methods design combining a quantitative survey with qualitative interviews, we explored the experiences and use of an opportunistic PGx passport, that was offered to parents who had undergone a trio-WES in pursuit of a genetic diagnosis for their child’s developmental delay. We examined how they experienced and used the passport in practice and how it influenced their perceived role and responsibilities in a care setting. A total of 44 respondents were included in this study. The passport was used by only a minority of participants, partly due to the absence of a current medication need, but primarily due to limited ability to understand and apply the PGx information. The PGx passport shifted responsibilities away from the digital healthcare information systems onto the individual recipient. Without adequate support, this shift risks responsibilizing recipients rather than genuinely empowering them with access to their PGx profiles. Based on these findings, we offer recommendations for the implementation of similar opportunistic PGx offers and for policy focussing on the appropriate integration of PGx into standard healthcare practice.