Advances in genomics have huge potential for patient outcomes. But with this momentum comes an ethical tension around the rights of patients to own their data. Our new research explores perceptions of health professionals around this issue.

From individualised and accurate diagnosis to the treatment of genetic diseases, recent advancements in genomics science and computational capabilities have huge potential for improved patient outcomes.

These advances are thanks to genomic data being used in the development of new biomedical technologies. However, with genomic data sourced from real patients, the benefits of patients’ individual genomic data comes at a potential risk to their privacy.

New research by the Responsible Innovation Future Science Platform and Transformational Bioinformatics Program at CSIRO published in European Journal of Human Genetics explores the ethical tension surrounding genomic data by examining the perceptions of Australian genomics professionals regarding patients’ rights to own their genomic data.

Differing perceptions among professional groups

Researchers at CSIRO conducted an online survey of four groups of professionals: clinical geneticists, genetic counsellors, bioinformaticians, and researchers.

Lead author Dr Yuwan Malakar said it was crucial for the research team to engage with these professionals to get a clear understanding of their views towards genomics data and privacy.

“These interactions allowed us to examine any similarities and differences in their perceptions, and how their roles and responsibilities might inform their views on patient data ownership”, he said.

Relying on a mixed-method approach, the researchers found that genomic professionals are generally supportive of patients owning their genomic data. Further, professionals with no direct interface with patients (bioinformatics and researchers) have more favourable perceptions towards patient data ownership than patient-facing professionals (clinical geneticists and genetic counsellors). The views of Australian genomic professionals may be shaped by how closely they interact with patients as part of their duties.

Uncovering the complexities around patient data

The authors found that the implementation of patient genomic data ownership in Australia is not straight forward, given a shared or collective ownership (e.g., with family members and laboratories) and the need to clarify legal ownership issues and rights.

These findings highlight the need for more guidelines around the sourcing of patient data for research and development, including social and ethnic diversity.

This is sentiment is shared by co-author Associate Professor Denis Bauer.

‘Personalised medicine is only as good as the data that informs it,’ she said.

“To be able to improve treatment choices for all Australians, we need to consolidate data across siloes especially from diverse population groups. For that we need to develop fit-for-purpose infrastructure that builds trust”, said A/Prof Bauer.

Towards a more digitally literate health system

Among the solutions identified by authors include investment in appropriate infrastructure and workforce along with increased public awareness. The authors underscore that such solutions will be needed on Australia’s path to balancing the safeguarding privacy and data sharing.

The study also highlights that data ownership cannot be provided by a purely technical solution. While self-sovereign identity concepts and decentralised ledgers like blockchain might underpin the solution it needs to ultimately arise from a more digitally literate health system.

By navigating both the technical and social aspects of genomic data use in Australia, the Responsible Innovation Future Science Platform and Transformational Bioinformatics Program aim to create a balanced approach that utilises technological advances to improve health outcomes for patients while ensuring privacy and security of their personal data.

Originally published Research.CSIRO.AU

Malakar, Y., Lacey, J., Twine, N.A., McCrea, R., Bauer, D.C. Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia. Eur J Hum Genet. , 2023 | DOI: