Roberts, J. Scott

Policy Points: The policy context of direct‐to‐consumer personal genomic testing (DTC‐PGT) has been evolving over the last decade, with little empirical data available about consumers’ perspectives. A majority of consumers of DTC‐PGT supported expanded access to services and their integration into the medical context and opposed more governmental regulation. Consumers’ attitudes about access to services and regulation did not vary based on the specific genetic risk information they received from companies, but may vary based on whether consumers perceived their DTC experience negatively. ContextWhile policymakers have been considering the appropriateness of direct‐to‐consumer personal genomic testing (DTC‐PGT) for more than a decade, there is little empirical data on consumers’ views regarding the regulation of these products. No research has assessed whether consumers’ personal experience with testing is related to their views about access to and regulation of DTC tests.MethodsData were analyzed from the PGen Study, a longitudinal prospective cohort of DTC‐PGT customers of 23andMe (n = 564) and Pathway Genomics (n = 377; total N = 941). Consumers were sent an electronic survey before receiving genetic test results and again 6 months after receipt of results.FindingsAt the 6‐month follow‐up, more than 80% of participants believed that people have a right to access genetic information directly, that parents should be able to get DTC‐PGT testing for their children, and that genetic information should be kept private. Participants supported health insurance coverage of PGT (60%), wider availability of PGT (68%), and inclusion of genetic information in medical records (63%). Participants were less supportive of government regulation (28%) and restricting testing to clinical settings (14%). Conservative political ideology was associated with less support for government regulation (P < 0.001), as was feeling more confident in one's genetic knowledge (P < 0.05). Participants’ level of computed genetic risk for common diseases, as indicated by their actual test results received from companies, showed no relationship with attitudes. However, those who perceived that they had received elevated risk results expressed lower support for expanded availability and incorporation of PGT into health care (P < 0.01). Those who reported being upset by their genetic test results were less likely to endorse access to DTC products without a medical professional (P < 0.01).ConclusionsPGT consumers supported expanded access to these services and opposed additional regulation. Users who had a negative personal experience with PGT testing were less supportive of expanded availability without a medical professional.

AbstractThe increased use of genomic sequencing in clinical diagnostics and therapeutics makes imperative the development of guidelines and policies about how to handle secondary findings. For reasons both practical and ethical, the creation of these guidelines must take into consideration the informed opinions of the lay public. As part of a larger Clinical Sequencing Exploratory Research (CSER) consortium project, we organized a deliberative democracy (DD) session that engaged 66 participants in dialogue about the benefits and risks associated with the return of secondary findings from clinical genomic sequencing. Participants were educated about the scientific and ethical aspects of the disclosure of secondary findings by experts in medical genetics and bioethics, and then engaged in facilitated discussion of policy options for the disclosure of three types of secondary findings: 1) medically actionable results; 2) adult onset disorders found in children; and 3) carrier status. Participants’ opinions were collected via surveys administered one month before, immediately following, and one month after the DD session. Post DD session, participants were significantly more willing to support policies that do not allow access to secondary findings related to adult onset conditions in children (Χ2 (2, N = 62) = 13.300, p = 0.001) or carrier status (Χ2 (2, N = 60) = 11.375, p = 0.003). After one month, the level of support for the policy denying access to secondary findings regarding adult‐onset conditions remained significantly higher than the pre‐DD level, although less than immediately post‐DD (Χ2 (1, N = 60) = 2.465, p = 0.041). Our findings suggest that education and deliberation enhance public appreciation of the scientific and ethical complexities of genome sequencing.

AbstractEarly‐onset Alzheimer's disease (EOAD) is an increasingly diagnosed condition and is associated with genetic risk factors. This is one of the first studies exploring the lived experience of siblings of individuals with EOAD. We used structured questionnaires and semi‐structured interviews to assess a broad range of siblings’ experiences with and beliefs about EOAD, including knowledge, perceptions of personal risk, level of worry, and effects on life decisions. Participants (n = 24) were predominantly female (62.5%) and middle‐aged (mean = 56.8 years; range 37–83). When asked about risk factors, genetics was cited most frequently (62.5%). Several potential means of reducing AD risk were endorsed, with 54% reporting engagement in behaviors for this purpose (e.g., keeping mentally active). Participants ranged widely in their perceived personal risk of AD (range: 0–100; mean = 35.6%), with higher perceived risk associated with worry about AD (p < 0.01). Understanding siblings’ experiences with EOAD can inform how genetic counselors and healthcare professionals work with this population to facilitate risk communication and decision‐making about testing and healthcare.