Responsible Innovation Future Science Platform, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Brisbane, Queensland, Australia.
Transformational Bioinformatics, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Sydney, Australia.
Eur J Hum Genet. 2024 May;32(5):506-512. doi: 10.1038/s41431-022-01273-w. Epub 2023 Jan 11.
There are inherent complexities and tensions in achieving a responsible balance between safeguarding patients' privacy and sharing genomic data for advancing health and medical science. A growing body of literature suggests establishing patient genomic data ownership, enabled by blockchain technology, as one approach for managing these priorities. We conducted an online survey, applying a mixed methods approach to collect quantitative (using scale questions) and qualitative data (using open-ended questions). We explored the views of 117 genomic professionals (clinical geneticists, genetic counsellors, bioinformaticians, and researchers) towards patient data ownership in Australia. Data analysis revealed most professionals agreed that patients have rights to data ownership. However, there is a need for a clearer understanding of the nature and implications of data ownership in this context as genomic data often is subject to collective ownership (e.g., with family members and laboratories). This research finds that while the majority of genomic professionals acknowledge the desire for patient data ownership, bioinformaticians and researchers expressed more favourable views than clinical geneticists and genetic counsellors, suggesting that their views on this issue may be shaped by how closely they interact with patients as part of their professional duties. This research also confirms that stronger health system infrastructure is a prerequisite for enabling patient data ownership, which needs to be underpinned by appropriate digital infrastructure (e.g., central vs. decentralised data storage), patient identity ownership (e.g., limited vs. self-sovereign identity), and policy at both federal and state levels.
在保护患者隐私和共享基因组数据以促进健康和医学科学之间实现负责任的平衡方面,存在固有的复杂性和紧张关系。越来越多的文献表明,建立患者基因组数据所有权(通过区块链技术实现)是管理这些优先事项的一种方法。我们进行了一项在线调查,采用混合方法收集定量(使用量表问题)和定性数据(使用开放式问题)。我们探讨了 117 名澳大利亚基因组专业人员(临床遗传学家、遗传咨询师、生物信息学家和研究人员)对患者数据所有权的看法。数据分析显示,大多数专业人员认为患者拥有数据所有权的权利。然而,需要更清楚地了解在这种情况下数据所有权的性质和含义,因为基因组数据通常受到集体所有权的约束(例如,与家庭成员和实验室)。这项研究发现,虽然大多数基因组专业人员承认患者数据所有权的愿望,但生物信息学家和研究人员比临床遗传学家和遗传咨询师更赞成这一观点,这表明他们对这个问题的看法可能受到他们与患者互动的程度的影响,这是他们专业职责的一部分。这项研究还证实,更强的卫生系统基础设施是实现患者数据所有权的前提条件,这需要有适当的数字基础设施(例如,集中式与分散式数据存储)、患者身份所有权(例如,有限身份与自我主权身份)以及联邦和州各级的政策的支持。