Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations

European Journal of Human Genetics volume 32, pages 295–301 (2024)Cite this article

Subjects

Abstract

Genomic sequencing generates huge volumes of data, which may be collected or donated to form large genomic databases. Such information can be stored for future use, either for the data donor themselves or by researchers to help improve our understanding of the genetic basis of disease. Creating datasets of this magnitude and diversity is only possible if patients, their families, and members of the public worldwide share their data. However, there is no consensus on the best technical approach to data sharing that also minimises risks to individuals and exploration of stakeholders’ views on aspects of genomic data governance models—the ways genomic data is stored, managed, shared and used—has been minimal. To address this need, we conducted focus groups with 39 members of the Australian public exploring their views and preferences for different aspects of genomic data governance models. We found that consent and control were essential to participants, as they wanted the option to choose who had access to their data and for what purposes. Critically, participants wanted a trustworthy body to enforce regulation of data storage, sharing and usage. While participants recognised the importance of data accessibility, they also expressed a strong desire for data security. Finally, financial responsibility for data storage raised concerns for inequity as well as organisations and individuals using data in ethically contentious ways to generate profit. Our findings highlight some of the trade-offs that need to be considered in the development of genomic data governance systems.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

Data availability

The datasets generated during the current study are available from the corresponding author on reasonable request.

References

  1. ACMG Board of Directors. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:721–2.

    Article  CAS  PubMed  Google Scholar 

  2. Middleton A, Milne R, Thorogood A, Kleiderman E, Niemiec E, Prainsack B, et al. Attitudes of publics who are unwilling to donate DNA data for research. Eur J Med Genet. 2019;62:316–23.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, et al. Returning genome sequences to research participants: Policy and practice. Wellcome Open Res. 2017;2:15.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Koplin JJ, Savulescu J, Vears DF. Why genomics researchers are sometimes morally required to hunt for secondary findings. BMC Med Ethics. 2020;21:1–11.

    Article  Google Scholar 

  5. Trinidad SB, Fullerton SM, Bares JM, Jarvik GP, Larson EB, Burke W. Genomic research and wide data sharing: Views of prospective participants. Genet Med. 2010;12:486–95.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet. 2017;100:695–705.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Budin-Ljøsne I, Isaeva J, Maria Knoppers B, Marie Tassé A, Shen H-Y, McCarthy MI, et al. Data sharing in large research consortia: Experiences and recommendations from ENGAGE. Eur J Hum Genet. 2014;22:317–21.

    Article  PubMed  Google Scholar 

  8. Middleton A. Society and personal genome data. Hum Mol Genet. 2018;27:R8–13.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Milne R, Morley KI, Almarri MA, Anwer S, Atutornu J, Baranova EE, et al. Demonstrating trustworthiness when collecting and sharing genomic data: Public views across 22 countries. Genome Med. 2021;13:1–12.

    Article  Google Scholar 

  10. Milne R, Morley KI, Howard H, Niemiec E, Nicol D, Critchley C, et al. Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia. Hum Genet. 2019;138:1237–46.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Raza S, Hall A. Genomic medicine and data sharing. Br Med Bull. 2017;123:35–45.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Privacy Act 1988 (Cth).

  13. Australian Privacy Principles [Internet]. [cited 2023Feb24]. https://www.oaic.gov.au/privacy/australian-privacy-principles.

  14. McWhirter R, Eckstein L, Chalmers D, Kaye J, Nielsen J, Otlowski M, et al. Essentially Ours: Assessing the regulation of the collection and use of health-related genomic information. Hobart (AU):University of Tasmania; 2021.

  15. Lynch F, Meng Y, Best S, Goranitis I, Savulescu J, Gyngell C, et al. Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences. Eur J Med Genet. 2023;66:104676.

    Article  PubMed  Google Scholar 

  16. Biomedical Ethics Research Group, 2022. Sharing and storing children’s genomic data. https://www.youtube.com/watch?v=rqR_Tp0RcmY

  17. Vears DF, Gillam L. Inductive content analysis: A guide for beginning qualitative researchers. Focus Health Professional Educ. 2022;23:111–27.

    Article  Google Scholar 

  18. NVivo [computer program]. Version 20 for Windows. QSR International Pty Ltd; 2020.

  19. Middleton A, Milne R, Almarri MA, Anwer S, Atutornu J, Baranova EE, et al. Global public perceptions of genomic data sharing: What shapes the willingness to donate DNA and health data? Am J Hum Genet. 2020;107:743–52.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. McCormack P, Kole A, Gainotti S, Mascalzoni D, Molster C, Lochmüller H, et al. ‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research. Eur J Hum Genet. 2016;24:1403–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, et al. RD-Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med. 2014;29:780–7.

    Article  PubMed Central  Google Scholar 

  22. Zhang F, Chen Y, Meng W, Wu Q. Hybrid encryption algorithms for medical data storage security in cloud database. Int J Database Manag Syst. 2019;11:57–73.

  23. Knoppers BM, Harris JR, Budin-Ljøsne I, Dove ES. A human rights approach to an international code of conduct for genomic and clinical data sharing. Hum Genet. 2014;133:895–903.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Borry P, Bentzen HB, Budin-Ljøsne I, Cornel MC, Howard HC, Feeney O, et al. The challenges of the expanded availability of genomic information: an agenda-setting paper. J Community Genet. 2018;9:103–16.

    Article  PubMed  Google Scholar 

  25. Dixon-Woods M, Tarrant C. Why do people cooperate with medical research? Findings from three studies. Soc Sci Med. 2009;68:2215–22.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors thank the participants for their involvement. We would also like to thank Professor Mark Taylor for his advice in addressing some reviewer feedback.

Funding

The authors acknowledge the infrastructure funding received from the Victorian State Government through the Operational Infrastructure Support (OIS) Program. This work was supported by the Australian Government through the Medical Research Future Fund, as part of the Genomics Health Futures Mission (Grant number 76749).

Author information

Authors and Affiliations

  1. Murdoch Children’s Research Institute, Parkville, VIC, 3052, Australia

    Fiona Lynch, Ilias Goranitis, Julian Savulescu, Christopher Gyngell & Danya F. Vears

  2. The University of Melbourne, Parkville, VIC, 3052, Australia

    Fiona Lynch, Yan Meng, Stephanie Best, Ilias Goranitis, Julian Savulescu, Christopher Gyngell & Danya F. Vears

  3. Peter MacCallum Cancer Centre, Parkville, VIC, 3052, Australia

    Stephanie Best

  4. Victorian Comprehensive Cancer Centre, Parkville, VIC, 3052, Australia

    Stephanie Best

  5. Australian Genomics Health Alliance, Parkville, VIC, Australia

    Stephanie Best & Ilias Goranitis

  6. Chen Su Lan Centennial Professor in Medical Ethics, Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    Julian Savulescu

  7. Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, Leuven, 3000, Belgium

    Danya F. Vears

Authors
  1. Fiona Lynch
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yan Meng
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Stephanie Best
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ilias Goranitis
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Julian Savulescu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Christopher Gyngell
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Danya F. Vears
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors contributed to designing the study and revising the paper. FL and DV conducted the focus groups, analysed the data, and drafted and revised the paper.

Corresponding author

Correspondence to Danya F. Vears.

Ethics declarations

Competing interests

YM is an associate at Analysis Group, Ltd. Research for this paper was undertaken when she was working at the University of Melbourne. JS is a Partner Investigator on an Australian Research Council Linkage award (LP190100841, Oct 2020‐2023) which involves industry partnership from Illumina. He does not personally receive any funds from Illumina. Julian Savulescu presented at a Genomic Prediction‐organised webinar (2021), but received no payment or other benefits from Genomic Prediction Ltd. JS is a Bioethics Committee consultant for Bayer. The remaining authors declare no competing interests.

Ethics approval

This study was reviewed and approved by The Royal Children’s Hospital Human Research Ethics Committee (HREC/79393/RCHM-2021). Participants provided voluntary, informed consent.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lynch, F., Meng, Y., Best, S. et al. Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations. Eur J Hum Genet 32, 295–301 (2024). https://doi.org/10.1038/s41431-023-01381-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41431-023-01381-1

This article is cited by

Search

Advanced search

Quick links