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Genetic data contain sensitive health and non-health-related information about the individuals and their family members. Therefore, adopting adequate privacy safeguards is paramount when processing genetic data for research or clinical purposes. One of the major legal instruments for personal data protection in the EU is the new General Data Protection Regulation (GDPR), which has entered into force in May 2016 and repealed the Directive 95/46/EC, with an ultimate goal of enhancing effectiveness and harmonization of personal data protection in the EU. This paper explores the major provisions of the new Regulation with regard to processing genetic data, and assesses the influence of such provisions on reinforcing the legal safeguards when sharing genetic data for research purposes. The new Regulation attempts to elucidate the scope of personal data, by recognizing pseudonymized data as personal (identifiable) data, and including genetic data in the catalog of special categories of data (sensitive data). Moreover, a set of new rules is laid out in the Regulation for processing personal data under the scientific research exemption. For instance, further use of genetic data for scientific research purposes, without obtaining additional consent will be allowed, if the specific conditions is met. The new Regulation has already fueled concerns among various stakeholders, owing to the challenges that may emerge when implementing the Regulation across the countries. Notably, the provided definition for pseudonymized data has been criticized because it leaves too much room for interpretations, and it might undermine the harmonization of the data protection across the countries.

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.

Background Infrastructures are being developed to enhance and facilitate the sharing of cohort data internationally. However, empirical studies show that many barriers impede sharing data broadly. Purpose Therefore, our aim is to describe the barriers and concerns for the sharing of cohort data, and the implications for data sharing platforms. Methods Seventeen participants involved in developing data sharing platforms or tied to cohorts that are to be submitted to platforms were recruited for semi-structured interviews to share views and experiences regarding data sharing. Results Credit and recognition, the potential misuse of data, loss of control, lack of resources, socio-cultural factors and ethical and legal barriers are elements that influence decisions on data sharing. Core values underlying these reasons are equality, reciprocity, trust, transparency, gratification and beneficence. Conclusions Data generators might use data sharing platforms primarily for collaborative modes of working and network building. Data generators might be unwilling to contribute and share for non-collaborative work, or if no financial resources are provided for sharing data.

The history of research involving human subjects has demonstrated the importance of offering everyone an equal opportunity to participate in research, while safeguarding those who require special attention. When it comes to vulnerable individuals, this consideration is relevant. However, disagreement still exists about the meaning of vulnerability, the identification and definition of vulnerable populations, and how these concepts should be operationalised in policy documents in order to implement appropriate, preventive and respectful measures for all those subsumed within this category. Following the PRISMA-Ethics guidance, we performed a systematic review of policy documents to provide a comprehensive overview of how vulnerability is conceptualised and operationalised in research ethics. The aim is to investigate the meaning and definition of vulnerability in research ethics, its normative justification, the comprehensive set of subjects it refers to, and consequent provisions. Our search centred on three main sources: three overview lists that provide comprehensive coverage of research ethics policy documents and guidelines (the International Compilation of Human Research Standards, the Listing of Social-behavioral Research Standards and the Ethics Legislation, Regulation and Conventions); search databases (PubMed and Web of Science) and grey literature (Google Scholar), to ensure completeness of included policy documents. Search strings were developed by the last author (VS) in consultation with the co-first author (GB). The whole screening process was performed by the first (AG) and co-first author (GB), separately. The search was originally performed in April 2023, and then re-performed in May 2025 to exclude obsolescent results. English-language policy documents in the field of human research ethics and addressing the subject of vulnerability were included. Eligibility criteria covered both national and international application. For data analysis and synthesis, the authors followed the steps of the QUAGOL methodology: policy documents' reading (AG), highlighting of relevant parts (AG), development of a summary of each document's highlighted parts (AG), summary evaluation and verification against previous QUAGOL steps (AG, GB, VS), creation of a comprehensive scheme (AG, GB, VS), and description of results (AG, GB, VS). No automation tools were used at any stage of the review. Seventy-nine policy documents were included in the review. Research findings were organised in four different subsections, corresponding to four research questions. The analysis of such a significant number and variety of documents allowed us to identify several recurring patterns that characterise the way vulnerability is described and addressed by policy documents. Based on our roles as bioethicists, research ethicists, biotechnologies expert in clinical trials, and study coordinators, we identified some key themes, e.g., a tendency to identify and define vulnerable groups, rather than providing a general definition of vulnerability, and a tendency to define vulnerability in relation to informed consent. Only a proper understanding of the meaning of vulnerability, its implications and its normative justifications will make it possible to ensure a fair and ethically legitimate participation in research for all involved subjects. As to the study limitation, only publications written in English, or officially translated in English, were included in the review.

In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative means to derive health information from their DTC-GT raw data. While the ethical concerns associated with DTC-GT have been extensively discussed in the literature, the implications of third party interpretation (TPI) websites have remained largely unexplored. Here we sought to describe these services and elucidate their ethical implications in the context of the current DTC-GT debate. We reviewed five popular TPI websites that use SNP-based genomic data to report health-related information: Promethease, Interpretome, LiveWello, Codegen.eu, and Enlis Personal. We found that many of the ethical concerns previously described in DTC-GT also applied to TPI websites, including inadequate informed consent, questionable clinical validity and utility, and lack of medical supervision. However, some concerns about data usage and privacy reported in DTC-GT were less prominent in the five TPI websites we studied: none of them sold or shared user data, and 3/5 sites did not retain data in the long term. In addition, while exaggerated claims and inaccurate advertising have been frequently problematic in DTC-GT, advertising was minimal in the TPI sites we assessed, and 4/5 made no claims of health benefits. Overall, TPI adds a new dimension to the ethical debate surrounding DTC-GT, and awareness of these services will become increasingly important as personal genomics continues to expand. This study constitutes the first detailed ethical analysis of these services, and presents a starting point for further research and ethical reflection.

Purpose Findings from genomic sequencing can have important implications for patients and family members. Yet, when a patient does not consent to the disclosure of genetic information to relatives, it is unclear how health-care professionals (HCPs) should balance their responsibilities toward patients and their family members and whether breaches in confidentiality are warranted. Methods We conducted a systematic review of normative documents to understand how HCPs should discuss and facilitate family disclosure, and what should be done in cases where the patient does not consent to disclosure. Results We analyzed 35 documents from advisory committees at the national, European, and international level. We identified discrepancies regarding the recommended role of HCPs in disclosure. While almost all normative documents supported the disclosure of genetic information without patient consent in limited conditions, the conditions for disclosure were often not well defined. Documents provided varying degrees of information regarding what actions HCPs must take in such situations. Conclusion Our findings present concerns regarding the ability of these normative documents to guide HCPs’ decision making around the disclosure of genetic information to family members. Clearer guidance outlining the responsibilities and acceptability of disclosure is necessary to facilitate disclosure of genetic information to family members.

Reproductive genetic carrier screening (RGCS) has emerged as a promising tool for identifying couples with an increased likelihood of conceiving a child with an autosomal recessive or X-linked genetic condition. By enabling early detection, RGCS has the potential to support informed reproductive decision-making. Historically, carrier screening initiatives aimed to decrease the prevalence of specific genetic disorders by targeting particular high-risk populations. More recently, there has been a shift towards offering RGCS for a wider range of conditions, with the goal of enhancing reproductive autonomy by facilitating informed decision-making and addressing inequities in access to healthcare interventions. However, this shift towards a more inclusive, population-based approach has raised questions about the tension between individual autonomy and public health goals, as well as concerns regarding the potential negative effects of large-scale genetic screening initiatives. Furthermore, there is growing interest in utilizing RGCS data for broader purposes, such as population-based genetic screening programs for hereditary cancers or identifying causes of unexplained infertility, which may present additional ethical considerations. This review explores the complexities surrounding the implementation of RGCS, with an emphasis on its objectives, the significance of informed decision-making, and the wider societal challenges it may present. By analyzing these interconnected factors, we aim to provide a thorough understanding of the potential implications of RGCS on both individual autonomy and societal dynamics.

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. The aim of this study is to describe in depth the concerns about acquiring credit for data sharing within epidemiological research. 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. 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. 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.

There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.