The sharing of data generated by clinical genetic and genomic testing without explicit consent is important for timely diagnosis and treatment. While many jurisdictions permit the sharing of identifiable data for direct clinical care, institutional policies vary in how clearly they specify key elements, including when sharing is permitted, what data are covered, and what safeguards apply. Greater clarity around these elements may support responsible data sharing while balancing timely care with transparency and appropriate protections. We conducted a mixed-methods content analysis of data-sharing and privacy policies from 33 clinical genomic institutions across 17 countries and regions. Using a predefined analytical framework, we assessed how policies document key governance elements relevant to sharing without explicit consent. Two independent reviewers extracted information about clinical contexts, data types, justifications, and protections. Although 70% of institutions described circumstances permitting data sharing without explicit consent, most policies did not clearly define the scope or governance of such sharing. Policies also rarely distinguished clinical from research or secondary use and inconsistently specified privacy and security safeguards. While sharing was commonly justified for clinical care (78.3%) or testing services (43.5%), data recipient roles and onward-sharing expectations were often left undefined. This uneven documentation could make it difficult for clinical teams and institutional decision-makers to identify and justify decisions about what is permitted and under what conditions. A guidance framework specifying core governance elements and corresponding protections could help institutions communicate their governance choices more clearly and support comparable baseline practices for responsible data sharing.

This article explores the legal, social, and ethical challenges faced by intersex individuals in China, a population estimated to number in the millions but still largely invisible in national laws and public discourse. Drawing on recent international human rights developments and comparative legal analysis, the paper critically examines China's legal and medical frameworks through the lens of intersex rights. It highlights how entrenched binary conceptions of sex and gender deeply rooted in Confucian traditions, and reflected in Chinese administrative, medical, and legal systems, lead to widespread discrimination, non-consensual medical interventions, and structural exclusion of intersex individuals. The authors argue that despite generic constitutional and civil guarantees of equality, bodily integrity, and informed consent, intersex persons remain insufficiently protected due to the absence of targeted legislation and interpretive guidance. The article proposes incremental yet concrete reforms such as deferring non-urgent medical interventions, improving psychosocial support, introducing neutral terminology, and developing best-practice medical guidelines as viable steps toward greater inclusion. By examining relevant international and regional practices, including developments in Malta, Australia, and Hong Kong, the paper advocates for a post-binary legal approach that affirms intersex individuals' dignity, autonomy, and right to recognition in Chinese law and society.

Genetic discrimination (GD) involves an individual or a group being negatively treated, unfairly profiled, or harmed, relative to the rest of the population, because of genetic characteristics. Research has examined GD mainly in insurance and employment, with growing attention to immigration, finance, forensics, and education. China, as a major biotechnology actor, has expanded genetic testing and supported rapid growth in gene-sequencing enterprises. These developments have also heightened concerns about GD, particularly in employment contexts. Since 2009, five employment-related GD cases have been reported in China. Two proceeded through judicial processes, while three became discussed social incidents. These cases share several features: all involved individuals carrying thalassemia-related gene mutations; all occurred in southern China, where populations exhibit genetic adaptations to hot, humid climates; and none reached a satisfactory resolution. Notably, all incidents arose within public-sector or quasi-governmental institutions that operate as extensions of state governance. China's legal framework contains significant gaps in addressing employment-related GD, creating risks of systemic exclusion for individuals with certain genetic traits. Because these cases occurred in the public sector, such exclusion restricts political representation. We recommend reviewing sector-specific labor and administrative regulations, classifying genetic information as sensitive personal data, and strengthening mechanisms to ensure employment opportunities.

OBJECTIVES:In Canada, access to provincial funding for fertility treatments, such as in vitro fertilization (IVF) and preimplantation genetic testing (PGT), vary significantly. Despite rising demands, the lack of data on current practices across Canadian assisted reproductive technology (ART) clinics has contributed to the absence of standardized guidelines to support clinics offering these services. This pilot study surveys fertility clinics to examine current demands and practices related to PGT, while also exploring providers' perspectives on its implementation and future applications. METHODS:A 40-question survey was distributed to Canadian ART clinics offering IVF and PGT services. RESULTS:The responses confirm that there is a high demand for IVF and PGT services. Although clinical criteria for PGT for aneuploidy (PGT-A) were generally consistent across clinics, views on its effectiveness and eligibility for public funding varied. PGT for monogenic disorders (PGT-M) appears to be widely available, and respondents showed strong support for public funding in cases involving serious heritable conditions. CONCLUSIONS:This study outlines current practice and highlights variations across clinics, while also presenting the perspectives of providers of ART clinics throughout Canada. It also provides a degree of foresight as to the direction the PGT practice may take in the coming years.

The sequence of the human genome provides a foundation for understanding cellular processes in health and disease1. The organisation of this primary genetic information into cell-specific structure and function is critical to understanding the cell type-specific interpretation and execution of the genome. Epigenetic processes are essential for packaging and higher-level functional organisation of the genome, and changes therein are increasingly recognised as contributors to human disease. Building on primary data generated by multinational consortia, the International Human Epigenome Consortium2 (IHEC) has uniformly processed a collection of more than 2000 comprehensive human reference epigenomes, collectively referred to as EpiATLAS. This effort involved the development of standardised molecular and bioinformatics protocols, metadata models, and analytical tools to manage, integrate, display, and share vast amounts of epigenomic data. This includes the creation of a publicly available Epigenome Reference Registry, which provides a system for accessing protected human subject datasets and facilitates open searching of de-identified samples and experimental data. The integrated EpiATLAS ecosystem and its comprehensive human reference epigenome maps provide an unprecedented resource for the biosciences, expanding the annotated epigenomic landscape while uncovering previously unappreciated relationships among regulatory layers and revealing how epigenetic inputs underpin fundamental cellular functions and disease associations.

Genetic stigma and resulting discrimination are multifaceted concerns that impact people’s willingness to undergo genetic testing, contributing to disproportionately adverse health outcomes for marginalized communities. While concerns of genetic discrimination (GD) manifest across multiple demographics, they are particularly prevalent amongst certain groups where previous experiences of discrimination can propagate complex stigmas. To address these concerns, countries worldwide have enacted genetic non-discrimination laws. However, while laws like Canada’s Genetic Non-Discrimination Act have highlighted the need to prevent GD, they often treat instances of GD as isolated events, failing to account for the systemic inequities that lead to disparate rates of GD across particular communities. This paper argues that a human rights approach can better address how GD intersects with other forms of marginalization, providing a more holistic approach to combat the stigmatic effects of GD.

Forensic epigenetics is emerging as a powerful extension of traditional forensic genetics, offering the capacity to infer age, lifestyle, and environmental exposures from epigenetic marks. Yet its promise is shadowed by significant ethical, legal, and social questions. This article analyzes the scientific foundations and practical applications of forensic epigenetic techniques while interrogating their implications for privacy, discrimination, and human rights. It argues that the promise of enhanced investigative capability must be balanced against risks of misuse, stigmatization, and function creep. Drawing on comparative perspectives in law and bioethics, the authors emphasize the importance of proportional governance frameworks that uphold transparency, accountability, and respect for persons. Suggestions are made for the responsible integration of epigenetic data in forensic contexts, if and when, it meets sufficiently rigorous standards.

Amid growing geopolitical tension and scientific advances, fragmented and reactive governance policies could increase the risks of dual-use genomics, undermining international collaboration and data security. This Comment calls on the international genomics community to meet to establish robust, harmonized standards to safeguard genomic data.

BACKGROUND/OBJECTIVES:Risk-based breast cancer (BC) screening can provide tailored recommendations based on individual risk. We aimed to identify key predictors for BC risk stratification to inform implementation in screening programs. METHODS:We estimated 10-year BC risks using BOADICEA v.6 (CanRisk) in 3753 women aged 40-70 with no cancer history from the PERSPECTIVE I&I cohort. The primary endpoint was risk reclassification, assessed as the proportion of women whose assigned 10-year risk category changed when using different risk factor combinations against a full multifactorial model including questionnaire-based risk factors (QRFs), polygenic score (PGS), mammographic density (MD), and pedigree-structured first- and second-degree family history (FH) of breast, ovarian, pancreatic and prostate cancer, including both affected and unaffected relatives. Relative risk thresholds were set as <1.5 (average), 1.5-2.7 (higher-than-average), and ≥2.7 (high), equivalent to the remaining lifetime risk categories of <15%, 15-25% and ≥25% for women aged 30 (the anchor) to age 80. We quantified individual-level reclassification flows by direction and magnitude. RESULTS:Excluding PGS from risk calculations led to the highest overall reclassification. Using only the BC status in first- and second-degree relatives produced comparable risk classification to that of the full FH data that included breast, ovarian, prostate and pancreatic cancer (reclassification = 0.5%). However, collecting only affected relatives led to overestimation of risk. Excluding either PGS, MD or FH resulted in a greater proportion of reclassification among younger women. Adding the PGS to risk factors already collected in provincial screening programs reduced reclassification from 23% to ~13%. CONCLUSIONS:PGS, MD, QRFs and FH of BC in affected and unaffected first- and second-degree relatives are key for refining risk stratification. These findings provide real-world evidence on how incorporating different sets of risk factors, both those routinely collected in screening programs and those requiring additional data collection, affect individual-level risk classification amongst a population-based cohort, and how the impacts differ across age groups. While risk classification reflects model-based changes in estimated risk categories rather than direct evidence of mis-screening or clinical outcomes, comparison with the current eligibility criteria used to identify women at higher-than-average risk highlights the potential clinical value of a multifactorial risk assessment approach in ensuring more appropriate screening strategies.

Direct-to-consumer epigenetic testing (DTC-ET) companies are commercializing biological age estimation tests based on DNA methylation patterns, often paired with lifestyle advice or supplements marketed as capable of slowing or reversing aging. While these developments are distinct from epigenomic editing technologies, they similarly seek to reprogram biological processes at the molecular level and raise ethical, legal, and social issues (ELSI), for instance, by blurring further the boundaries between scientific, medical, and commercial interests. As these technologies diffuse rapidly into consumer markets despite ongoing scientific uncertainties, there is an urgent need to understand how experts assess their reliability and practical value, and to anticipate the broader societal impacts of their commercialization. This article presents findings from a real-time Delphi consultation involving relevant experts from the Francophone research community of France and Canada. The panel assessed 13 structured items spanning scientific, ethical, legal, and societal aspects of DTC-ET, and provided qualitative comments. Responses were analyzed using Wienroth’s RULE framework, which evaluates emerging technologies in terms of Reliability, Utility, and LEgitimacy. Results revealed a climate of general concern. No formal consensus was reached on any specific item. Strong disagreement emerged regarding the scientific justification for marketing supplements alongside epigenetic aging tests, with most participants rejecting claims of causal efficacy. Views diverged on the clinical utility of knowing one’s biological age. Privacy and data governance were highlighted as critical issues, with calls for legislation to prevent epigenetic discrimination approaching consensus. Societal concerns included the reinforcement of health inequities due to high test costs, the promotion of “epigenetic youth” narratives that risk entrenching ageism, and the shifting of responsibility for aging from structural conditions to individuals. Our findings suggest that while DTC-ET may hold perceived value for consumers, their scientific and clinical reliability remains limited, their utility contested, and their legitimacy deeply tied to questions of equity, responsibility, and societal perception of aging. As these technologies proliferate, regulators must clarify applicable frameworks, ensure robust protections against misuse of epigenetic data, and address the socio-cultural impacts of commodifying biological youth. Broader interdisciplinary dialogue is needed to anticipate how consumer epigenomics will reshape our collective understanding of aging and epigenetic responsibility.

Background AI-enabled brain-computer interfaces (BCIs) are emerging clinical technologies supported by advances in artificial intelligence, neural engineering, and nanomedicine, yet cross-national evidence on public readiness for their use remains limited. Methods We conducted a cross-sectional, six-country public survey between April 9 and Dec 23, 2022, among 6,000 adults (1,000 per country) in Canada, Japan, South Korea, the United States, Germany, and Denmark. Using a brain disorder such as Parkinson’s disease as a hypothetical clinical scenario, respondents indicated their willingness to use a proposed BCI for themselves or a family member, with the findings considered in the broader context of emerging AI-enabled BCIs. Adjusted logistic regression models examined factors associated with willingness. Findings Overall, 3,748 (62.5%) respondents were willing to use nano link technology; willingness was highest in South Korea (740 [74.0%]) and lowest in the United States (566 [56.6%]). Agreement was more frequent for improved patient self-control (4,416 [73.6%]) and real-time disease prevention (4,108 [68.5%]) than for autonomy concerns (2,341 [39.0%]) or concerns about overheating associated with real-time data collection (2,214 [36.9%]). In the fully adjusted model, the strongest associations with willingness were perceived benefit for patient self-control (adjusted odds ratio [aOR] 4.66, 95% CI 4.02-5.41) and real-time disease prevention (aOR 2.93, 2.55-3.37). Interpretation Public willingness to use AI-enabled BCIs was substantial overall and exceeded 50% in every surveyed country, although it varied across countries. Therapeutic expectations were the strongest correlates of willingness, while concerns about autonomy and overheating associated with real-time data collection remained salient and should inform responsible development and governance.

PURPOSE:To examine the psychological and emotional outcomes of personalized breast cancer risk communication up to 1 year after disclosure in a risk-stratified breast screening preimplementation study (Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation). METHODS:Among 3753 females aged 40 to 69, unaffected by breast cancer, with a prior mammogram, and who underwent multifactorial risk assessment to estimate their 10-year breast cancer risk, 2734 completed follow-up questionnaires up to 1 year after risk communication: 78.5% were at average risk, 16.5% at higher than average risk, and 5.0% at high risk. The impact of risk communication on breast cancer worry and psychological distress and factors associated with decisional regret were examined. RESULTS:Breast cancer worry and psychological distress scores remained low after risk communication and at 1 year follow-up. Up to 1 year after disclosure, small significant differences in breast cancer worry were observed between risk levels. Decisional regret was very low 1 year after risk communication. Lower levels of decisional regret were significantly associated with some factors, including higher satisfaction with the information received. CONCLUSION:This study suggests that personalized breast cancer risk communication has low negative psychological and emotional effects and highlights the importance of the information received for implementing this approach at population level.

Psychedelic treatment with psilocybin is receiving increased attention following clinical trials showing it may help treat end-of-life anxiety, depression, and several other conditions. Despite this, physicians may be reluctant to prescribe psilocybin and carry out psilocybin treatment because of the stigma surrounding psychedelics and the potential for medical malpractice liability. This paper explores whether psilocybin treatment gives rise to a risk of medical malpractice liability for physicians. Following an overview of psilocybin treatment and its regulatory regime in Canada, exploratory vignettes are used to highlight the relevance and limits of malpractice claims. This paper argues that the lack of established medical standards, standardized training, and credentialing contribute to liability risks surrounding psilocybin treatment. More clinical trials, meta-studies of research analyses, and knowledge sharing will help to develop training programs and medical standards of practice to better realize psilocybin's potential.

Recent advances in human genomics have transformed the field, leading to increased integration of genomics into mainstream clinical care, broadening the potential of personalized medicine, and expanding data generation and sharing. From the outset, genetics and genomics have given rise to a broad array of ethical concerns, including issues related to discrimination and stigmatization, informed consent, and reporting requirements of secondary findings. Ethics considerations and trends have evolved in parallel with the rapid technological progress in genomics. Like other transformative technologies, genomic innovations are governed by a combination of laws and ethics guidelines to ensure their responsible implementation. In this manuscript, we propose three key values that are crucial and timely to address now: equity, collective responsibility in the mainstreaming of genomics, and, sustainability. Equity warrants renewed attention due to its critical role in ensuring fair access to genomic innovations and promoting equality within society at large. Collective responsibility in the mainstreaming of genomics is equally important, especially as genomics becomes more broadly available in healthcare and to the broader public, thereby emphasizing shared accountability in its ethical application. Finally, in a context of scarcity of financial, personnel and environmental resources, sustainability needs to be considered to ensure the future of responsible governance in research and healthcare. The goal is to ensure equal access to genomic innovations, promote the ethically responsible use of genomic technologies, and support the long-term sustainability of the field.

Objective To describe primary care providers’ (PCPs) experience and satisfaction with receiving risk communication documents on their patient’s breast cancer (BC) risk assessment and proposed screening action plan.Design Descriptive cross-sectional study.Setting A survey was distributed to all 763 PCPs linked to 1642 women participating in the Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I) research project in Quebec, approximately 1–4 months after the delivery of the risk communication documents. The recruitment phase took place from July 2021 to July 2022.Participants PCPs.Main outcome measures Descriptive analyses were conducted to report participants’ experiences and satisfaction with receiving risk communication. Responses to two open-ended questions were subjected to content analysis.Results A total of 168 PCPs answered the survey, from which 73% reported being women and 74% having more than 15 years of practice. Only 38% were familiar with the risk-based BC screening approach prior to receiving their patient risk category. A majority (86%) agreed with the screening approach and would recommend it to their patients if implemented at the population level. A majority of PCPs also reported understanding the information provided (92%) and expressed agreement with the proposed BC screening action plan (89%). Some PCPs recommended simplifying the materials, acknowledging the potential increase in workload and emphasising the need for careful planning of professional training efforts.Conclusion PCPs expressed positive attitudes towards a risk-based BC screening approach and were generally satisfied with the information provided. This study suggests that, if introduced in Canada in a manner similar to the PERSPECTIVE I&I project, risk-based BC screening would likely be supported by most PCPs. However, they emphasised the importance of addressing concerns such as professional training and the potential impact on workload if the approach were to be implemented at the population level. Future qualitative studies are needed to further explore the training needs of PCPs and to develop strategies for integrating this approach with the high workloads faced by PCPs.

Psilocybin-assisted psychotherapy represents a promising addition to palliative care interventions, potentially improving quality of life by addressing existential distress. Despite its safety and effectiveness, this therapy remains limited in Canada, underscoring the need for improved access to ease suffering from life-threatening illnesses. However, important questions remain regarding how to integrate psilocybin-assisted psychotherapy into existing health care frameworks, navigate regulatory challenges, and ensure equitable access for all patients. These unanswered questions highlight the complexity of expanding access and the need for thoughtful, informed approaches to its implementation. To address this, the P3A team (Psilocybin at End of Life: Audacity, Acceptability, Access) held a forum on March 22, 2024, in Quebec, Canada, to explore actionable steps for the responsible use and equitable access to psilocybin-assisted psychotherapy. A total of 57 participants with knowledge in palliative care, including professional and patient associations, patients, health care professionals, researchers, and policymakers, attended the event, which featured presentations, a panel discussion, and small-group workshops. This report provides 16 recommendations across six previously identified key topics: (1) patient eligibility and equity, (2) regulatory framework and respect for autonomy, (3) logistical and organizational aspects, (4) professional education and training, (5) public awareness and information, and (6) research. The elements and recommendations discussed in this article could offer valuable insights for expanding access to psilocybin-assisted psychotherapy in other jurisdictions, particularly in global contexts where similar barriers to care exist.

BackgroundThe Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) incorporates the effects of common genetic variants, from polygenic risk scores, pathogenic variants in major breast cancer (BC) susceptibility genes, lifestyle/hormonal risk factors, mammographic density, and cancer family history to predict risk levels of developing breast and ovarian cancer. While offering multifactorial risk assessment to the population could be a promising avenue for early detection of BC, obstacles to its implementation including fear of genetic discrimination (GD), could prevent individuals from undergoing screening.MethodsThe aim of our study was two-fold: determine the extent of legal protection in Canada available to protect information generated by risk prediction models such as the BOADICEA algorithm through a literature review, and then, assess individuals’ knowledge of and concerns about GD in this context by collecting data through surveys.ResultsOur legal analysis highlighted that while Canadian employment and privacy laws provide a good level of protection against GD, it remains uncertain whether the Genetic Non-Discrimination Act (GNDA) would provide protection for BC risk levels generated by a risk prediction model. The survey results of 3,055 participants who consented to risk assessment in the PERSPECTIVE I&I project showed divergent perspectives of how the law would protect BC risk level in the context of employment and that a high number of participants did not feel that their risk level was protected from access and use by life insurers. Indeed, 49,1% of participants reckon that the level of breast cancer risk could have an impact on a woman’s ability to buy insurance and 58,9% of participants reckon that a woman’s insurance might be cancelled if important health information (including level of breast cancer risk) is not given when buying or renewing life or health insurance.ConclusionThe results indicate that much work needs to be done to improve and clarify the extent of protection against GD in Canada and to inform the population of how the legal framework applies to risk levels generated by risk prediction models.