Combining datasets into larger and separate datasets is becoming increasingly common, and personal identifiers are often removed in order to maintain participant anonymity. Views of research participants on the use of deidentified data in large research datasets are important for future projects, such as the Precision Medicine Initiative and Cancer Moonshot Initiative. This quantitative study set in the USA examines participant preferences and evaluates differences by demographics and cancer history. Study participants were recruited from the Northwest Cancer Genetics Registry and included cancer patients, their relatives, and controls. A secure online survey was administered to 450 participants. While the majority participants were not concerned about personal identification when participating in a genetic study using de-identified data, they expressed their concern that researchers protect their privacy and information. Most participants expressed a desire that their data should be available for as many research studies as possible, and in doing so, they would increase their chance of receiving personal health information. About 20% of participants felt that a link should not be maintained between the participant and their de-identified data. Reasons to maintain a link included an ability to return individual health results and an ability to support further research. Knowledge of participants' attitudes regarding the use of data into a research repository and the maintenance of a link to de-identified data is critical to the success of recruitment into future genomic research projects.

Breast cancer risk reduction has been validated by large-scale clinical trials, but uptake remains low. A risk communication tool could provide personalized risk-reduction information for high-risk women. A low-literacy-friendly, visual, and personalized tool was designed as part of the Women Informed to Screen Depending On Measures of risk (WISDOM) study. The tool integrates genetic, polygenic, and lifestyle factors, and quantifies the risk-reduction from undertaking medication and lifestyle interventions. The development and design process utilized feedback from clinicians, decision-making scientists, software engineers, and patient advocates. We piloted the tool with 17 study participants, collecting quantitative and qualitative feedback. Overall, participants felt they better understood their personalized breast cancer risk, were motivated to reduce their risk, and considered lifestyle interventions. The tool will be used to evaluate whether risk-based screening leads to more informed decisions and higher uptake of risk-reduction interventions among those most likely to benefit.

Observational genome-wide association studies require large sample sizes. Evaluating the interplay between genomic, environmental, and lifestyle factors can require even larger sample sizes. The All of Us Research Program will recruit 1 million participants to facilitate research on genomic, environmental, and lifestyle factors. Integrating participant preferences into the research process is a new paradigm and a necessary component of the All of Us Research Program. The purpose of the study is to summarize quantitative studies of participant preferences related to participation in observational genomic research studies, starting with consent through return of results. Integrating this information into the conduct of genomic studies may benefit participants, and improve participant satisfaction, recruitment, and retention. We conducted a systematic review of the literature regarding participant views related to reconsent and broad consent, use of de-identified data, contribution of data to a biorepository, risk of identification, return of individual genetic results, and motivation for participation in genomic studies. Twenty-three articles met our inclusion and exclusion criteria. Study results found that most participants support broad consent; however, significant differences related to reconsent preferences have been shown by gender and age. Most participants support the return of individual genomic results and do not feel it is necessary to maintain a link to their de-identified data. Reasons given for joining research studies varied by population source. These findings, in addition to the knowledge that participants are more accepting of broad informed consent methods when the rationale is explained, can assist in developing guidelines for future observational genomic research.

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.

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.