From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts.

Biological samples containing DNA that is attributed to deceased relatives, can now undergo genetic testing at a reasonable cost due to revolutionary improvements in sampling, sequencing, and analytical techniques. This artifact DNA testing, or 'artDNA', includes genetic analysis of hair locks, stamps, envelopes with saliva traces or teeth. ArtDNA can reveal valuable information about a deceased relative or one's genetic background, but it also presents novel ethical dilemmas and legal uncertainties for genetic researchers and commercial testing services. In this paper, we provide an analysis of some of the unique ethical and legal risks of such testing and provide needed recommendations for practitioners of private family artDNA testing. ArtDNA testing generates ethical and legal risks regarding the privacy and autonomy of deceased individuals, the rights of living relatives over their ancestor's genetic information, and the rights of living persons to control their own genetic information. To mitigate these risks, practitioners can conduct certain preliminary testing to ascertain the identity of a DNA donor and estimate the time that has elapsed postmortem. Generally, the ethical and legal concerns will be higher when a shorter period has passed between the death of the DNA donor and the time of artifact DNA testing. Regardless, all artDNA testing present some risks, and practitioners should exercise professional judgement as necessary.

The Data Governance Act and the EU's move towards facilitating data sharing.

The implementation of the EU General Data Protection Regulation (GDPR) has had significant impacts on biomedical research, often complicating data sharing among researchers. The recently announced proposal for a new EU Data Governance Act is a promising step towards facilitating data sharing, if it can interplay well with the GDPR.

Data sharing platforms and the academic evaluation system.

Data-level metrics could encourage scientists to openly share data - a goal of Open Science - if these DLMs became part of the academic reward system.

Credit and Recognition for Contributions to Data-Sharing Platforms Among Cohort Holders and Platform Developers in Europe: Interview Study.

BACKGROUND: The European Commission is funding projects that aim to establish data-sharing platforms. These platforms are envisioned to enhance and facilitate the international sharing of cohort data. Nevertheless, broad data sharing may be restricted by the lack of adequate recognition for those who share data. OBJECTIVE: The aim of this study is to describe in depth the concerns about acquiring credit for data sharing within epidemiological research. METHODS: A total of 17 participants linked to European Union-funded data-sharing platforms were recruited for a semistructured interview. Transcripts were analyzed using inductive content analysis. RESULTS: Interviewees argued that data sharing within international projects could challenge authorship guidelines in multiple ways. Some respondents considered that the acquisition of credit for articles with extensive author lists could be problematic in some instances, such as for junior researchers. In addition, universities may be critical of researchers who share data more often than leading research. Some considered that the evaluation system undervalues data generators and specialists. Respondents generally looked favorably upon alternatives to the current evaluation system to potentially ameliorate these issues. CONCLUSIONS: The evaluation system might impede data sharing because it mainly focuses on first and last authorship and undervalues the contributor's work. Further movement of crediting models toward contributorship could potentially address this issue. Appropriate crediting mechanisms that are better aligned with the way science ought to be conducted in the future need to be developed.

Raw Genomic Data: Storage, Access, and Sharing.

Patients are increasingly being encouraged and supported to access and control their own medical and genomic data. We argue that well-established and transparent raw genomic data retention and returning policies are imperative to enable patients to practice their rights to access and control raw data.

Forensic Epigenetic Age Estimation and Beyond: Ethical and Legal Considerations.

Forensic geneticists are in a race to develop methods based on DNA methylation for various forensic applications, including age estimation. We argue that using epigenetic biomarkers could reveal a broad range of health and life-style related information, therefore it is necessary to develop adequate safeguards to protect the privacy of the individuals under scrutiny.

Ethics review of big data research: What should stay and what should be reformed?

BACKGROUND: Ethics review is the process of assessing the ethics of research involving humans. The Ethics Review Committee (ERC) is the key oversight mechanism designated to ensure ethics review. Whether or not this governance mechanism is still fit for purpose in the data-driven research context remains a debated issue among research ethics experts. MAIN TEXT: In this article, we seek to address this issue in a twofold manner. First, we review the strengths and weaknesses of ERCs in ensuring ethical oversight. Second, we map these strengths and weaknesses onto specific challenges raised by big data research. We distinguish two categories of potential weakness. The first category concerns persistent weaknesses, i.e., those which are not specific to big data research, but may be exacerbated by it. The second category concerns novel weaknesses, i.e., those which are created by and inherent to big data projects. Within this second category, we further distinguish between purview weaknesses related to the ERC's scope (e.g., how big data projects may evade ERC review) and functional weaknesses, related to the ERC's way of operating. Based on this analysis, we propose reforms aimed at improving the oversight capacity of ERCs in the era of big data science. CONCLUSIONS: We believe the oversight mechanism could benefit from these reforms because they will help to overcome data-intensive research challenges and consequently benefit research at large.

Public involvement in the governance of population-level biomedical research: unresolved questions and future directions.

Population-level biomedical research offers new opportunities to improve population health, but also raises new challenges to traditional systems of research governance and ethical oversight. Partly in response to these challenges, various models of public involvement in research are being introduced. Yet, the ways in which public involvement should meet governance challenges are not well understood. We conducted a qualitative study with 36 experts and stakeholders using the World Café method to identify key governance challenges and explore how public involvement can meet these challenges. This brief report discusses four cross-cutting themes from the study: the need to move beyond individual consent; issues in benefit and data sharing; the challenge of delineating and understanding publics; and the goal of clarifying justifications for public involvement. The report aims to provide a starting point for making sense of the relationship between public involvement and the governance of population-level biomedical research, showing connections, potential solutions and issues arising at their intersection. We suggest that, in population-level biomedical research, there is a pressing need for a shift away from conventional governance frameworks focused on the individual and towards a focus on collectives, as well as to foreground ethical issues around social justice and develop ways to address cultural diversity, value pluralism and competing stakeholder interests. There are many unresolved questions around how this shift could be realised, but these unresolved questions should form the basis for developing justificatory accounts and frameworks for suitable collective models of public involvement in population-level biomedical research governance.

Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies.

Access to detailed variant data is key to inform and verify the interpretation of genomic data. Clinical laboratories can play a significant role in sharing patients' data through public variant databases. To facilitate data sharing, various public databases, such as ClinVar and DECIPHER have been established, which accept data submission from laboratories, clinicians, researchers, and patients. Despite clear benefits to sharing, questions may arise about the adequate form of consent to be obtained from patients when sharing data from their clinical tests through public databases. In this paper, we provide an overview and critical analysis of the relevant consent policies of the major public databases, and of the consent forms of clinical laboratories that share variant data via ClinVar.

Transparency and objectivity in governance of clinical trials data sharing: Current practices and approaches.

Sharing metadata, individual participant data and summary data, as a complement to results dissemination and trial registration requirements, is perceived to be advantageous by enabling faster and more accurate meta-analyses and reducing the need for additional trials. To date, various models of data access have been utilized in order to manage clinical trials data sharing and access in line with the rights and interests of sponsors, researchers and patients involved in clinical trials. In order to ensure responsible data sharing, the data access review process should be developed in a way that ensures fairness, transparency and objectivity. In this article, we critically review some examples of current governance models in clinical trials data sharing and suggest approaches to ensure the objectivity of the data access review process.

Model consent clauses for rare disease research.

BACKGROUND: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants' overall protection. METHODS: A global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world. Existing consent forms and notices of consent were analyzed and classified under different consent themes, which were used as background to develop the model consent clauses. RESULTS: The IRDiRC-GA4GH MCC Task Force met in September 2018, to discuss and design model consent clauses. Based on analyzed consent forms, they listed generic core elements and designed the following rare disease research specific core elements; Rare Disease Research Introductory Clause, Familial Participation, Audio/Visual Imaging, Collecting, storing, sharing of rare disease data, Recontact for matching, Data Linkage, Return of Results to Family Members, Incapacity/Death, and Benefits. CONCLUSION: The model consent clauses presented in this article have been drafted to highlight consent elements that bear in mind the trends in rare disease research, while providing a tool to help foster harmonization and collaborative efforts.

Controlled Access under Review: Improving the Governance of Genomic Data Access.

In parallel with massive genomic data production, data sharing practices have rapidly expanded over the last decade. To ensure authorized access to data, access review by data access committees (DACs) has been utilized as one potential solution. Here we discuss core elements to be integrated into the fabric of access review by both established and emerging DACs in order to foster fair, efficient, and responsible access to datasets. We particularly highlight the fact that the access review process could be adversely influenced by the potential conflicts of interest of data producers, particularly when they are directly involved in DACs management. Therefore, in structuring DACs and access procedures, possible data withholding by data producers should receive thorough attention.

"You want the right amount of oversight": interviews with data access committee members and experts on genomic data access.

PURPOSE: Genomic data sharing is vital for optimizing the use of public-funded research data. Data access committees (DACs) have been introduced as a core component of governance in controlled-access models. However, the tasks, structure, and functionality of DACs often remain unstudied. This article investigates the role and adequacy of DACs in access reviews from the perspective of DAC members and experts. METHODS: Twenty semi-structured interviews were conducted with both DAC members engaged in genomic data sharing via controlled-access databases and experts in the field. RESULTS: The respondents indicated that protecting the privacy of data subjects along with recognition of data producers' efforts are the main underlying reasons of access review and the controlled-access model. In reviewing the ethical basis and the scientific aspects of access requests, tools and mechanisms such as consent forms, data access agreements, and guidelines have been used. Nevertheless, DAC members and experts identified shortcomings associated with current approaches that may adversely impact the effectiveness and efficiency of access review. CONCLUSION: The identified shortcomings of current approaches to access review could be addressed via complementary mechanisms and alternative models of data sharing to facilitate access to data sets in a responsible fashion.Genet Med 18 9, 892-897.

Ethical and social reflections on the proposed European Health Data Space.

The COVID-19 pandemic demonstrated the benefits of international data sharing. Data sharing enabled the health care policy makers to make decisions based on real-time data, it enabled the tracking of the virus, and importantly it enabled the development of vaccines that were crucial to mitigating the impact of the virus. This data sharing is not the norm as data sharing needs to navigate complex ethical and legal rules, and in particular, the fragmented application of the General Data Protection Regulation (GDPR). The introduction of the draft regulation for a European Health Data Space (EHDS) in May 2022 seeks to address some of these legal issues. If passed, it will create an obligation to share electronic health data for certain secondary purposes. While there is a clear need to address the legal complexities involved with data sharing, it is critical that any proposed reforms are in line with ethical principles and the expectations of the data subjects. In this paper we offer a critique of the EHDS and offer some recommendations for this evolving regulatory space.

Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory.

The coming-into-force of the EU General Data Protection Regulation (GDPR) is a watershed moment in the legal recognition of enforceable rights to informational self-determination. The rapid evolution of legal requirements applicable to data use, however, has the potential to outstrip the capabilities of networks of biomedical data users to respond to the shifting norms. It can also delegitimate established institutional bodies that are responsible for assessing and authorising the downstream use of data, including research ethics committees and institutional data custodians. These burdens are especially pronounced for clinical and research networks that are of transnational scale, because the legal compliance burden for outbound international data transfers from the EEA is especially high. Legislatures, courts, and regulators in the EU should therefore implement the following three legal changes. First, the responsibilities of particular actors in a data sharing network should be delimited through the contractual allocation of responsibilities between collaborators. Second, the use of data through secure data processing environments should not trigger the international transfer provisions of the GDPR. Third, the use of federated data analysis methodologies that do not provide analysis nodes or downstream users access to identifiable personal data as part of the outputs of those analyses should not be considered circumstances of joint controllership, nor lead to the users of non-identifiable data to be considered controllers or processors. These small clarifications of, or modifications to, the GDPR would facilitate the exchange of biomedical data amongst clinicians and researchers.

Genomic Data as a National Strategic Resource: Implications for the Genomic Commons and International Data Sharing for Biomedical Research and Innovation.

This article provides a critical review of new policies in China, the United States, and the European Union that characterize genomic data as a national strategic resource. Specifically, we review policies that regulate human genomic data for economic, national security, or other strategic purposes rather than ethical or individual rights purposes.

Reward systems for cohort data sharing: An interview study with funding agencies.

Data infrastructures are being constructed to facilitate cohort data sharing. These infrastructures are anticipated to increase the rate of data sharing. However, the lack of data sharing has also been framed as being the consequence of the lack of reputational or financial incentives for sharing. Some initiatives try to confer value onto data sharing by making researchers' individual contributions to research visible (i.e., contributorship) or by quantifying the degree to which research data has been shared (e.g., data indicators). So far, the role of downstream evaluation and funding distribution systems for reputational incentives remains underexplored. This interview study documents the perspectives of members of funding agencies on, amongst other elements, incentives for data sharing. Funding agencies are adopting narrative CVs to encourage evaluation of diverse research outputs and display diversity in researchers' profiles. This was argued to diminish the focus on quantitative indicators of scientific productivity. Indicators related to open science dimensions may be reintroduced if they are fully developed. Shifts towards contributorship models for research outputs are seen as complementary to narrative review.