Objectives

Genomic information will increasingly be used to aid in the prevention, diagnosis, and treatment of disease. Several national initiatives are paving the way for this new reality, while also promoting new models of participant-engaged research. We compare the opinions of research participants in a cancer registry, human genetic researchers, and institutional review board (IRB) professionals about the return of individual-level genetic results (ROR).

Methods

Online surveys were administered to participants in a cancer registry (n = 450) and overlapping questions were compared to our previous online national surveys of human genetic researchers (n = 351) and IRB professionals (n = 208).

Results

The majority of respondents agreed that researchers have an obligation to return individual results when they would affect a participant's health. While 77% of registry participants favored ROR if the researcher feels the participant might be interested in the results, only 30% of the IRB professionals and 25% of the genetic researchers agreed with this statement.

Conclusions

Significant differences emerged between the stakeholder groups in several ROR scenarios. Policies that are acceptable to participants, researchers and IRBs, and that ensure human subject protections and facilitate research are needed.

Background

With the arrival of large-scale population-based genomic research studies, such as the Precision Medicine Initiative (PMI), the question of how to best consent participants is significant, and in an era of patient-centered research, few studies have evaluated participants' preferences about re-consent and broad consent. Using quantitative methods, this study evaluates participants' views regarding the acceptability of re-consent and broad consent in subjects from the Participant Issues Project.

Methods

A total of 450 participants were recruited from a cancer genetics registry, including cancer patients, their relatives, and controls. Participants completed a secure online survey.

Results

Most participants endorsed re-consent when investigating an unrelated health condition or sharing their de-identified data with an investigator at a different institution. Notification rather than re-consent was preferred when studying a different gene but the same disease. Over 80% of respondents endorsed re-consent when parents of a child gave the original consent and the child has now reached adulthood. Preferences for some scenarios varied by history of cancer at baseline, gender, stage of cancer, or case versus control group. The large majority of participants preferred the option to select broad consent categories of research.

Conclusion

Understanding research participants' preferences, including their views on the need for re-consent, are critical to the success of the PMI.

The rise of large cohort-based health research that includes genetic components has increased the communication challenges for researchers. Controversies have been amplified over requirements for re-consent, return of results, and privacy protections, among other issues. This study extended research on the impact that the perceived role of "research participant" might have on communication expectations to illuminate research participants' preferences for re-consent. The study employed an online survey of participants in a long-standing cancer genetics registry. Results confirmed previous exploratory findings that research participants endorse multiple mental models of participant roles in research (doctor-patient, collaborator, donor, legal contract, etc.). Regression analyses indicated that high and low salience of different models of the role of research participant are related to different communication expectations. However, the pattern of relationships among roles is relevant. The results of the regression analysis also indicated that preference for mandatory re-consent and its relationship to mental models of roles are related to attitudes of trust, benefits, and informational risks. The discussion identifies implications as including the use of explicit approaches to address role relationships in communication with research participants. It also points to implications for methodological approaches in mental model research.

Background

The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research.

Methods

Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min. Topics explored in this study include which types of genetic test results participants of large biorepositories expect and would like to receive from research analyzing their samples, as well as thoughts on best practice for conducting this type of research.

Results

Cancer cases, controls, and first-degree relatives have differing views on what results they would like to receive from biorepository-based research. Participants across all groups attempted to balance the costs and benefits of returning individual research results.

Discussion

In the wake of precision medicine, it is important to describe the range of ways participants in large biorepositories both think and talk about the utilization of their specimens for genetics research.