Global Governance of Genomic Data: A Dynamic Ecosystem to Promote the Development of Precision Medicine
Professor, faculty of Medicine and Health Sciences
Research Director, Center of genomics and Policy
Over the past two decades, we have seen unprecedented advancements in genomics, DNA sequencing technologies, and bioinformatics. Generating and assembling human genomic sequences has become faster, easier, and cheaper. Greater access to these large amounts of OMICS data should, in turn, improve screening programs and tests, personalized medicine, and forensic investigations.1,2,3
This unique opportunity to improve our knowledge of biology and health led to the advent of large-scale international OMICS consortia and database projects seeking to unravel the mysteries of our genome and share this information with the research community. Alongside implementing these projects, international organisations and scientific groups developed a plethora of governance policies addressing important ethical, legal, and social issues raised by these developments, such as consent, confidentiality, and data sharing. Beyond these international texts, global governance of genomics has also been strongly influenced by laws, regulations, and standards adopted at the national level. These norms are often not genetic-specific in nature and apply to specific aspects of genomic governance, for example, data privacy, intellectual property, health research, benefit sharing, and non-discrimination. Existing divergences between these various domestic laws can hinder the implementation of international genomic projects or their implementation and prevent data sharing. An international organisation, the Global Alliance for Genomics and Health (GA4GH), was created by stakeholders in 2013 to help the scientific community securely and ethically overcome technical and policy interoperability problems at the international level to promote a coherent international genomic governance framework.
Beyond respecting public policies, genomics governance also involves the exercise of authority and control over managing an infrastructure’s data and samples. An important objective of genomic governance is ensuring that human genomic resources are strategically valorized to create public benefits in terms of improved disease prevention and therapeutic options.4 Open rapid data sharing and simplified data transfer agreements (DTAs) come into this equation as important valorization tools to promote more optimal use of genomic resources. However, in specific contexts, the ethical and scientific imperative for broad data sharing may need to be nuanced or even set aside to allow a specific project to accomplish its public good mission. This could include projects/consortia recruiting more vulnerable population groups or communities with a history of abusive relationships from researchers or cases where stakeholders in the research have an insufficient incentive to share their genomic resources. In these cases, alternative arrangements that will allow the valorization of the data without unduly restricting community access should be sought, such as the use of a data embargo, data federation, data enclave, or intellectual property rights (if allowed for by Intellectual Property laws) associated with non-exclusive licensing.
A key stakeholder in the data governance process is the data steward. Data stewardship entails many responsibilities and functions through which a data steward takes accountability for transparent data oversight and valorization. For example, data stewards must ensure the integrity, privacy, and security of genomic data under their care and that the data infrastructure is compliant with applicable regulations, standards, and guidelines. Additionally, they are responsible for seeing that the data meet the FAIR governance principles (Findability, Accessibility, Interoperability, and Reuse) and are appropriately enriched through strategic collaborations and linkages.5,6 The recognition that the data is held on behalf of the participants could also warrant the introduction of dynamic, patient-centered, governance mechanisms.7 These mechanisms would allow participants to provide their opinion on the sharing and use of their genomic resources to the data steward. Options offered through these mechanisms should not have the consequence of effectively preventing data sharing that is beneficial for the common good.
A key question for genomic governance regards the sharing of benefits with populations having contributed their samples and data to genomic infrastructures. While human genomic resources are excluded from the Convention on Biological Diversity and subsequent Nagoya Protocol that prescribe the sharing of benefits arising from the utilization of genetic resources fairly and equitably, in many cases, there will be strong ethical considerations warranting such benefit sharing.8,9,10 Thus, benefit sharing in human genomic research is best considered an ethical duty whose importance and modalities are highly context-dependent.10 For example, a consortium collecting samples and data from diverse African populations to accelerate research and therapeutic development for COVID-19 may have a distinct, possibly more stringent duty to share research benefits than a North American domestic population biobank project. This different benefit-sharing treatment would be justified considering the history of exploitation of African research participants by members of the research community, urgent needs created by the pandemics, and the lack of economic and scientific capacity to benefit from genomic innovation in this region to the same extent as in the United States and Canada.11
Coming back to the broader requirement to share benefits, the spectrum of potential benefits to share could encompass anything from a simple acknowledgement of gratitude through an email bulletin sent to the participants in their own language, to sophisticated arrangements to promote capacity-building or distribution of a fair share of the profits for the population that contributed. Some key principles should apply across the spectrum: 1) Benefit sharing can and should be used as a mechanism to address an imbalance in who stands to benefit and who will incur the risk/inconvenience of a given genomic project, 2) Clear plans for the provision of public benefits should be established from the onset by all large-scale publicly funded genomic repositories; 3) Special care should be taken to ensure that the form and amount of benefit that is selected will not unduly influence a specific population to participate in the repository. Benefit sharing is becoming an increasingly important ethical duty at a time where the need to diversify the content of genomic databases by including population groups that have been so far neglected by the research community is becoming self-evident.12
Navigating the modalities and standards proposed for genomic governance in a consistent manner that is coherent with national laws is a daunting task. The broad formulation used in some instruments, along with the occasional disagreements on key questions (for example, on the necessity of the returning results, the required level of oversight over anonymized data, or the requirement for ethics review) and the inconsistent use of terms and normative formulations between instruments seemingly exacerbates this challenge. Yet, this normative diversity is also a source of richness and flexibility that may be warranted in a fast-moving scientific field like genomics. Another important challenge to data governance comes from the lack of robust enforcement mechanisms at the international level. This absence of enforceable sanctions has led some to consider international genomic governance standards as little more than window dressing. But this critique is unwarranted. Global governance norms in genomics constitute important standards that strongly influence policymakers at the national and regional level and can be enforced quite stringently through professional and social sanctions. Of course, such enforcement is a work in progress that will require a high degree of collaboration between multiple stakeholders, such as journal editors, data producers, data users, and local authorities. However, the few instances where situations of noncompliance have arisen have demonstrated the availability and effectiveness of these recourses. The simple threat of issuing a public declaration of non-conformity, associated with the possibility of adopting professional sanctions, can be sufficient to resolve many cases of non-conformity.
However, good genomic governance is a holistic process that should not be reduced to an assortment of organizations, norms, and sanctions. Beyond this, and perhaps more importantly, it is the positive intent and action of steering a genomic repository created through the altruistic participation of humans from across the world towards realizing public health benefits. Many of the large genomic projects and repositories developed by researchers are ongoing. Yet, the rich dynamism of the genomic governance ecosystem is a positive sign that something truly unique may be at play here.
I am the current Co-lead of the GA4GH Regulatory and Ethics Workgroup (REWS). This work was made possible through the financial support of the Can-Share Connect: Supporting the Regulatory and Ethics Work Stream of the Global Alliance for Genomics and Health (GA4GH) project, funded by the Canadian Institutes of Health Research and Genome Québec.
Table of References
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