Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG

The effective management of personal health data is critically challenged in the rapidly evolving landscape of health and research. It is important to strike a positive balance between facilitating access to personal health observations, protecting the privacy of citizens, instilling trust in the use of personal data and lowering inequity and disparities. This should certainly include the balance of personal protection and access, with availability of data to promote public health discovery and innovation. Lynch et al recognized this need to find consensus among Australian public stakeholders on aspects of genomic data governance models- the ways genomic data is stored, managed, shared and used [1]. They found that consent and control were essential to the focus group participants, for participants reflected on the accessibility of their data and the importance of clarity of data-use purpose. They expressed a need for a model or trustworthy body to regulate the storage, sharing, security and usability of data. Finally, financial responsibility for data storage raised concerns for inequity as well as organizations and individuals using data in ethically contentious ways to generate profit. The findings by Lynch et al do not only apply to the Australian Public perspectives, but recently Tommel et al. published similar findings from a Dutch and Belgian perspective [2]. Across Europe, Personal Health Data Space (PHDS) projects are under development aiming to establish patient-centered, interoperable data ecosystems balancing data access, control, and use for individual citizens to complement the research and commercial focus of the European Health Data Space provisions. Tommel et al.’s study explored healthcare users' and health care professionals' perspectives on personalized genomic medicine and PHDS solutions, specifically the Personal Genetic Locker (PGL). This included: (i) participants were interested in genomic information; (ii) participants valued data control, robust infrastructure, and sharing data with non-commercial stakeholders; (iii) autonomy was a central concern for all participants; (iv) institutional and interpersonal trust were highly significant for genomic medicine; and (v) participants encouraged the implementation of PHDSs since these instruments were thought to promote the use of genomic data and enhance patients' control over their data.

These issues all align to the General Data Protection Regulation (GDPR), while the GDPR regulates protection for citizens regarding the use of personal data, there is a trend back towards broad consent and enforcing data controllers to share data without a re-consenting process. However, this could lead to citizens losing trust in sharing their data if they are not engaged in the decision-making process and are not informed about how their data is used. Initiatives like the European Health Data Space, Genomic Data Infrastructure, European Health Data Evidence Network, and the European Joint Program on Rare Diseases are crucial in building human data infrastructure. National infrastructures such as the data infrastructure of the German Medical Informatics Initiative, the Dutch Health Research Infrastructure, and the Swiss Personal Health Network are also important. One of the countries that is frequently criticized (whether this is legitimized or not remains to be discussed) for its use of personal data in research is the USA, for its informed consent may not be as transparent as many think it should be. The primary driver of this concern could be the complexity of the regulations. The use and sharing of personal health data in the USA is governed by various federal and state laws, including the Health Insurance Portability and Accountability Act (HIPAA), which sets standards for the privacy and security of personal health information, and the Affordable Care Act (ACA), which includes provisions related to the sharing of health data for research purposes. Under HIPAA, healthcare providers and insurers must obtain patients' written consent before sharing their personal health data with third parties, except in certain circumstances, such as for treatment or payment purposes. Patients also have the right to access and request corrections to their own health data. In recent years, there has been growing US interest in using personal health data for research and public health purposes as well. To address concerns about privacy and security, various initiatives have been launched to promote the responsible sharing of health data, such as the Precision Medicine Initiative and the All of Us research program, the world’s largest and most diverse data set. Overall, the use and sharing of personal health data in the USA is a complex and evolving area, with important implications for privacy, security, and public health.

Lynch et al. reported types of genomic data impact people’s perception of and attitude towards the risks and benefits of genomic data usage. This finding is possibly based on their personal experiences and perceived risk, whether they or their family members were affected by an inherited disease for example. Widespread collection and sharing of personal data via social media would be less concerning than similar uses of genomic sequencing data. Both accessibility, but also security of the genomic data according to study participants in Lynch et al.’s study were expressed to be of high importance. Using cloud-based systems were expressed by participants/citizens to be less secure than physical storage, despite the fact cloud-based systems can enable high level data security and physical systems are not immune to data breaches. Public education will be needed to facilitate acceptance and understanding of diverse forms of storage systems based on evidence of their security. These results show it is even more critical and urgent to investigate options that allow citizens globally to be the facilitators of the responsible storage and use of their data in a broad range of applications, leveraging the latest technologies. This includes empowering well-educated citizens with tools and platforms that enable them to manage and control their data and involving them in the decision-making process for their use. By doing so, we could ensure that personal health data is used in a responsible, ethical, and trustworthy manner, benefiting the individual as well as the broader population.

Advances in health care and patient management can benefit from data sharing. Big data is needed to enable innovation in healthcare through AI/machine learning, such as applying knowledge of (pharmaco)genomics in daily clinical practice. AI/machine learning may be equally important to enable prevention, early diagnosis and timely treatment of rare and common diseases where genetics and environmental factors often interact. Precarious thinking about how to apply AI and big data effectively and holding to FAIR principles (using the FAIR principles: Findability, Accessibility, Interoperability, and Reuse of digital assets https://www.go-fair.org/fair-principles/) is needed. Ultra-rare disease can be seen as one of the critical use cases for the concept of citizen-controlled health data, as diagnosis of these diseases often is dependent on the sharing of data between similar patients across the world. A survey of patients has indicated clear support for data sharing to foster research and improve healthcare under specific conditions, such as respecting privacy, making one’s own choices, and requiring insight into the use of one’s data. However, we risk losing the trust of people and their family members living with rare diseases if policy and decision makers in the health domain are not sufficiently aware of technical solutions that can meet these requirements. It is important to leverage the latest technologies to enable dynamic consent, manage complex access conditions, and provide federated analysis where authorized algorithms run "at the source of the data" on behalf of authorized users.

Currently, health organizations all over the world control the data and offer only a choice between broad consent and no consent, despite the existence of technology that supports more fine-grained control over data sharing. By providing citizens with the tools and platforms to manage and control their data, a system such as the Personal Genetic Locker can ensure that data is used in a responsible, ethical, and trustworthy manner. Data ethics is clearly not about the data itself (data recording should be corresponding to it purpose) and legal regulations should come into place about how we are going to use the data in a FAIR and responsible way. This approach can help foster trust and engagement in the use of personal health data for research and healthcare, benefiting both the individual and the broader population. Educating medical professionals and patients or citizens about genomic data and data ethics is critical in order to trust this process and get clarity of accountability. More philosophy and more thinking about this should become part of this process and there are clear signs we are working towards that (e.g., recent personal experience at DATAETHICS Multiplier Event (dataethics-eurolife.eu) and Mayo Clinic Individualizing Medicine Conference 2023: Direct-to-Patient Omics-Based Clinical Trials. Critical thinkers are coming together at many conferences to discuss these questions and in some events patients are asked to share their views on data sharing. Patient engagement should be greatly encouraged. It is also important to consider the education needs of students and promote the development of a framework to build educational modules on data ethics, possibly applied to the more context driven situations across the globe. The lack of uniform training tools and educational resources in handling big data can have significant ethical implications. This is especially true given the increasing volume of data being generated and the potential for misuse or mishandling of this data.

It is encouraging to hear at the DATAETHICS Multiplier event (dataethics-eurolife.eu) the need for cross-border strategic partnerships to address this issue. Collaboration among organizations, institutions, and governments can help to establish common standards and best practices for handling big data, as well as providing training and educational resources that are accessible and relevant across different regions globally. By working together, stakeholders can share knowledge and expertise, identify areas of need, and develop innovative solutions to address the ethical implications of big data handling. This can include efforts to protect individual privacy, ensure data security, and promote transparency and accountability in the use of data.

Overall, we believe that cross-border partnerships and collaborations are essential for addressing the challenges and ethical implications associated with big data. Through coordinated efforts, we can build a more robust and responsible data ecosystem and framework that benefits individuals and society. In this manner we could use the genomic sequencing data to its full potential, by outlining a path for secure data flow, storage and future utility with applications keeping the patients’ best interest and care at heart and empowering their engagement.

Author contributions

EJFH drafted and revised the manuscript and approve the final version. EWK helped write the manuscript and approved the final version. Both EJFH and EWK agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Funding

No specific funding.

Competing interests

The authors declare no competing interests.