Genomic Data Governance Challenges Between Research and Clinical Care: A Scoping Review

The translational nature of genomics highlights the importance of developing a robust genomic data governance framework. To inform the development of such a framework for Australia, we conducted a scoping review to identify genomic data governance and management differences between research and clinical care.

For this scoping review, four databases were searched and 9528 relevant articles published between January 2013 and October 2024 were identified. After screening, 43 empirical, legal and theoretical/commentary articles were included. The differences reported to affect genomic data governance and management practices across clinical and research settings were extracted and synthesised.

Fifteen empirical articles revealed that the 'community' and the 'workforce' reported different consent priorities and differing understandings of the expected benefits of providing genomic data for research. Three legal articles reiterated the influence of regulatory regimes on genomic data practices and rights. Lastly, all twenty-five theoretical/commentary articles were authored by researchers; none by community representatives. While 3/25 articles described the genomic data practices of rare and undiagnosed disease patient populations, 22/25 examined the ethical, legal and social implications arising from genomic data. Among the latter, 14/22 proposed 'solutions' to address identified genomic data challenges associated with consent, returning research genomic data to patients and advancing precision medicine.

Differences in understanding, expectations and regulatory regimes can challenge genomic data governance and management practices and perceptions. Considering the implications of these challenges, meaningful community involvement will be critical in developing a governance framework that responsibly leverages genomic data to deliver more equitable health care.

Members of the Genetic, Undiagnosed and Rare Disease (GUARD) Collaborative - the LINEAGE Consortium's Community Advisory Group partner - Emma Bonser, Monica Ferrie, Alex Fulton, Caroline Kiefer, Kate Marchant, Tony Neilson, Maya Pinn, Tania Prior-Smith, Heather Renton, Susie Roczo-Farkas and Joel Taggart contributed community perspectives and critical reflections during discussions of early findings, informing the development of this manuscript. Kate Marchant, a LINEAGE-GUARD member, is an author of this manuscript, contributing critical revisions and approving the final manuscript.