The Canadian Genomics Partnership for Rare Diseases, spearheaded by Genome Canada, will integrate genome-wide sequencing to rare disease clinical care in Canada. Centralized and tiered models of data ...stewardship are proposed to ensure that the data generated can be shared for secondary clinical, research, and quality assurance purposes in compliance with ethics and law. The principal ethico-legal obligations of clinicians, researchers, and institutions are synthesized. Governance infrastructures such as registered access platforms, data access compliance offices, and Beacon systems are proposed as potential organizational and technical foundations of responsible rare disease data sharing. The appropriate delegation of responsibilities, the transparent communication of rights and duties, and the integration of data privacy safeguards into infrastructure design are proposed as the cornerstones of rare disease data stewardship.
In this opinion piece, we discuss why computational tools to limit the identifiability of genomic data are a promising avenue for privacy-preservation and legal compliance. Even where these ...technologies do not eliminate all residual risk of individual identification, the law may still consider such data anonymised.
On 16 July 2020, the Court of Justice of the European Union issued their decision in the Schrems II case concerning Facebook's transfers of personal data from the EU to the US. The decision may have ...significant effects on the legitimate transfer of personal data for health research purposes from the EU. This article aims: (i) to outline the consequences of the Schrems II decision for the sharing of personal data for health research between the EU and third countries, particularly in the context of the COVID-19 pandemic; and, (ii) to consider certain options available to address the consequences of the decision and to facilitate international data exchange for health research moving forward.
In this viewpoint, we argue for the importance of creating data spaces for genomic research that are detached from contexts in which fundamental rights concerns related to surveillance measures ...override a purpose-specific balancing of fundamental rights. Genomic research relies on molecular and phenotypic data, on comparing findings within large data sets, on searchable metadata, and on translating research results into a clinical setting. These methods require sensitive genetic and health data to be shared across borders. International data sharing between the European Union (EU) or the European Economic Area and third countries has accordingly become a cornerstone of genomics. The EU General Data Protection Regulation contains rules that accord privileged status to data processing for research purposes to ensure that strict data protection requirements do not impede biomedical research. However, the General Data Protection Regulation rules applicable to international transfers of data accord no such preferential treatment to international data transfers made in the research context. The rules that govern the international transfer of data create considerable barriers to international data sharing because of the cost-intensive procedural and substantive compliance burdens that they impose. For certain jurisdictions and select use cases, there exist practically no lawful mechanisms to enable the international transfer of data because of concerns about the protection of fundamental rights. The proposed solutions further fail to address the need to share large data sets of local and regional cohorts across national borders to enable joint analyses. The European Health Data Space is an emerging federated, EU-wide data infrastructure that is intended to function as an infrastructure bringing together EU health data to improve patient care and enable the secondary use of health-related data for research purposes. Such infrastructure is implementing new institutions to support its functioning and is being implemented in reliance on a new enabling law, the regulation on the European Health Data Space. This innovation provides the opportunity to facilitate EU contribution to international genomic research efforts. The draft regulation for this data space provides for a concept of data infrastructure intended to enable cross-border data exchange and access, including access to genetic and health data for scientific analysis purposes. The draft regulation also provides for obligations of national actors aimed at making data widely available. This effort is laudable. However, in the absence of further, more fundamental changes to the manner in which the EU regulates the secondary use of health data, it is reasonable to believe that EU participation in international genomic research efforts will remain impeded.
Of Screening, Stratification, and Scores Knoppers, Bartha M.; Bernier, Alexander; Granados Moreno, Palmira ...
Journal of personalized medicine,
07/2021, Volume:
11, Issue:
8
Journal Article
Peer reviewed
Open access
Technological innovations including risk-stratification algorithms and large databases of longitudinal population health data and genetic data are allowing us to develop a deeper understanding how ...individual behaviors, characteristics, and genetics are related to health risk. The clinical implementation of risk-stratified screening programmes that utilise risk scores to allocate patients into tiers of health risk is foreseeable in the future. Legal and ethical challenges associated with risk-stratified cancer care must, however, be addressed. Obtaining access to the rich health data that are required to perform risk-stratification, ensuring equitable access to risk-stratified care, ensuring that algorithms that perform risk-scoring are representative of human genetic diversity, and determining the appropriate follow-up to be provided to stratification participants to alert them to changes in their risk score are among the principal ethical and legal challenges. Accounting for the great burden that regulatory requirements could impose on access to risk-scoring technologies is another critical consideration.
Health organisations use numerous different mechanisms to collect biomedical data, to determine the applicable ethical, legal and institutional conditions of use, and to reutilise the data in ...accordance with the relevant rules. These methods and mechanisms differ from one organisation to another, and involve considerable specialised human labour, including record-keeping functions and decision-making committees. In reutilising data at scale, however, organisations struggle to meet demands for data interoperability and for rapid inter-organisational data exchange due to reliance on legacy paper-based records and on the human-initiated administration of accompanying permissions in data. The adoption of permissions-recording, and permissions-administration tools that can be implemented at scale across numerous organisations is imperative. Further, these must be implemented in a manner that does not compromise the nuanced and contextual adjudicative processes of research ethics committees, data access committees, and biomedical research organisations. The tools required to implement a streamlined system of biomedical data exchange have in great part been developed. Indeed, there remains but a small core of functions that must further be standardised and automated to enable the recording and administration of permissions in biomedical research data with minimal human effort. Recording ethical provenance in this manner would enable biomedical data exchange to be performed at scale, in full respect of the ethical, legal, and institutional rules applicable to different datasets. This despite foundational differences between the distinct legal and normative frameworks is applicable to distinct communities and organisations that share data between one another.
Improving patient care and advancing scientific discovery requires responsible sharing of research data, healthcare records, biosamples, and biomedical resources that must also respect applicable use ...conditions. Defining a standard to structure and manage these use conditions is a complex and challenging task. This is exemplified by a near unlimited range of asset types, a high variability of applicable conditions, and differing applications at the individual or collective level. Furthermore, the specifics and granularity required are likely to vary depending on the ultimate contexts of use. All these factors confound alignment of institutional missions, funding objectives, regulatory and technical requirements to facilitate effective sharing. The presented work highlights the complexity and diversity of the problem, reviews the current state of the art, and emphasises the need for a flexible and adaptable approach. We propose Digital Use Conditions (DUC) as a framework that addresses these needs by leveraging existing standards, striking a balance between expressiveness versus ambiguity, and considering the breadth of applicable information with their context of use.
Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying the need for standardised and yet flexible ways to digitally represent diverse 'use conditions'. ...We report a core lexicon of terms that are atomic, non-directional 'concepts of use', called Common Conditions of use Elements. This work engaged biobanks and registries relevant to the European Joint Programme for Rare Diseases and aimed to produce a lexicon that would have generalised utility. Seventy-six concepts were initially identified from diverse real-world settings, and via iterative rounds of deliberation and user-testing these were optimised and condensed down to 20 items. To validate utility, support software and training information was provided to biobanks and registries who were asked to create Sharing Policy Profiles. This succeeded and involved adding standardised directionality and scope annotations to the employed terms. The addition of free-text parameters was also explored. The approach is now being adopted by several real-world projects, enabling this standard to evolve progressively into a universal basis for representing and managing conditions of use.
Sharing data expediently for pandemic response purposes exposes healthcare providers in Canada to significant regulatory uncertainty. Duplicative and contradictory ethical and legal duties flowing ...from overlapping sources can stifle flows of medical data among clinicians, researchers, and institutions. Authorities should support caregivers and accelerate research by providing clear guidance to the health sector. Institutions should foster robust data stewardship and standardize their practices to those recognized among the international health informatics community. Reform is critical to ensuring Canadian healthcare providers can deliver efficient health responses that are integrated with dispersed and disparate national and international approaches.
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