Involving people in genomics research
Public involvement in research occurs when the public, patients, or research participants are actively contributing to the research process. Public involvement has been acknowledged as a key priority for prominent human genomics research initiatives in many different countries. However, to date, there has been no detailed analysis or review of the features, methods, and impacts of public involvement occurring in human genomics research projects worldwide. We reviewed the reported public involvement in 96 human genomics projects (initiatives), based on a database of initiatives hosted by the Global Alliance for Genomics and Health, according to information reported on public domain websites. To conduct the scoping review, we applied a structured categorization of criteria to all information extracted from the search.
We found that only a third of all initiatives reported public involvement in any capacity (32/96, 33%). In those reporting public involvement, we found considerable variation in both the methods and tasks of involvement. Some noteworthy initiatives reported diverse and comprehensive ways of involving the public, occurring through different stages of the research project cycle. Our findings suggest there would be intrinsic value in having more public involvement occur in human genomics research worldwide. We also suggest that more systematic ways of reporting and evaluating involvement would be highly beneficial, to help develop best practices.
We are now working to apply these findings to four prominent genomics research projects in Australia, to co-design their studies and explore people’s views about involvement. These projects include a large cohort study of >15,000 healthy, elderly research participants, the Australian Indigenous Precision Medicine project, a group of patients and families affected by a rare immunological disorder, and an extended family of donor-siblings who share the same sperm-donor father. We have assessed the impacts of involving people at various stages of each project, from study design, to recruitment to ethical oversight and governance. We have created a standardised reporting framework to evaluate impacts across these studies. Learn more at