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The Forensic Databases Advisory Board (FDAB), an independent board that assists the International Society for Forensic Genetics (ISFG), has presented a First Report on ethical aspects of the following Forensic Genetic Frequency Databases (FGFD): EMPOP, STRidER and YHRD. The FDAB designed an ethical framework to evaluate the content of these FGFD, and the factors to be considered for retention and acceptance of submissions. The FDAB framework proposes to categorize submissions according to the risk of having contravened the universal ethical principles outlined by international organizations, and the guidelines adopted by the ISFG. The report has been open to discussion by the scientific community since 2023. Herein we present the conception and development of the First Report along with a summary of its content, with consideration of the feedback received. • Presentation of the Forensic Databases Advisory Board work since its establishment in 2021. • Rationale behind the ethical framework to evaluate the content of the FGFD. • Design of risk categories of submissions to FGFD. • Suggested actions on risk submissions. • Continued debate on emerging challenges is needed. [ABSTRACT FROM AUTHOR]

Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by "normalizing" genital surgeries without the child's consent. Despite efforts to reform clinical practice, there remains a paucity of research centering the needs of the intersex community and their families. This study explored parents' perspectives on how healthcare professionals (HCPs), such as genetics professionals, can provide patient-centered education and support when parents first learn of their child's intersex variation, with the aim of offering recommendations to HCPs to promote parental adjustment and protect intersex children's right to autonomy. Thirteen qualitative semi-structured interviews were conducted with 14 parents of intersex children. Through reflexive thematic analysis, under the framework of an agency-based approach to intersex health, thematic categories were inductively conceptualized, including barriers and facilitators to HCPs' sensitivity and to parental adjustment in the early disclosure environment. Barriers to HCPs' sensitivity were imposed by educational, religious, or medical institutions, along with sociocultural prejudices and pathologizing language. Barriers to parental adaptation included uncertainty regarding their child's future, sociocultural gender norms, and unsuitable information provision. Incorporating parental needs in the disclosure environment can facilitate familial acceptance, including normalization of variations of sex characteristics (VSCs), enhanced medical education, facilitation of patients' navigation, and prioritization of parents' social support needs., (© 2024 The Author(s). Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

National forensic DNA databases are a valuable investigative tool, that have the potential to increase the efficacy of criminal investigations. Their unfettered expansion in recent years raises unsettling ethical issues that require close attention. DNA database expansion threatens the rights to privacy, non-discrimination, and equality, and can undermine public trust in government. This perspective piece relies on data from an international mapping study of Forensic DNA Databases to document the expansion of these databases, highlight the ethical issues they raise, and propose key recommendations for more responsible use of this infrastructure., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Background: Intersex describes a diversity of individuals with variations in sex characteristics (VSC), reflecting underlying differences in reproductive anatomy, hormones, and/or genes and chromosomes. With a shift towards socially-conscious clinical practices, genetic counsellors (GCs) are increasingly needing to provide comprehensive care to individuals with VSC and their families. However, the current quality of training provided to genetic counsellors on intersex health is unclear., Methods: Qualitative interviews were conducted between Jan-Feb 2021 with 20 current and graduated students of Canadian GC training programs to assess the quality of GC education on intersex health topics. An agency-based model of VSC health as proposed by Crocetti et al. was used to guide the inductive thematic data analysis., Results: Results revealed three key themes: limited discussions on psychosocial considerations when caring for intersex individuals, enthusiasm for integrating more intersex training into the curriculum, and personal initiative in ensuring equity and justice in the care of individuals with VSC., Conclusions: These findings demonstrate existing knowledge gaps in the GC curriculum, with a need to increase the profession's overall awareness on intersex issues. GC training programs have an opportunity to meet the desires of students while promoting person-centered and validating healthcare for the intersex community., (© 2024. The Author(s).)

Many countries consider long-term implications for society.

Genetic discrimination is an evolving phenomenon that impacts fundamental human rights such as dignity, justice and equity. Although, in the past, various definitions to better conceptualize genetic discrimination have been proposed, these have been unable to capture several key facets of the phenomenon. In this Perspective, we explore definitions of genetic discrimination across disciplines, consider criticisms of such definitions and show how other forms of discrimination and stigmatization can compound genetic discrimination in a way that affects individuals, groups and systems. We propose a nuanced and inclusive definition of genetic discrimination, which reflects its multifaceted impact that should remain relevant in the face of an evolving social context and advancing science. We argue that our definition should be adopted as a guiding academic framework to facilitate scientific and policy discussions about genetic discrimination and support the development of laws and industry policies seeking to address the phenomenon., (© 2024. Springer Nature America, Inc.)

Risk-stratified breast screening has been proposed as a strategy to overcome the limitations of age-based screening. A prospective cohort study was undertaken within the PERSPECTIVE I&I project, which will generate the first Canadian evidence on multifactorial breast cancer risk assessment in the population setting to inform the implementation of risk-stratified screening. Recruited females aged 40-69 unaffected by breast cancer, with a previous mammogram, underwent multifactorial breast cancer risk assessment. The adoption of multifactorial risk assessment, the effectiveness of methods for collecting risk factor information and the costs of risk assessment were examined. Associations between participant characteristics and study sites, as well as data collection methods, were assessed using logistic regression; all p -values are two-sided. Of the 4246 participants recruited, 88.4% completed a risk assessment, with 79.8%, 15.7% and 4.4% estimated at average, higher than average and high risk, respectively. The total per-participant cost for risk assessment was CAD 315. Participants who chose to provide risk factor information on paper/telephone (27.2%) vs. online were more likely to be older ( p = 0.021), not born in Canada ( p = 0.043), visible minorities ( p = 0.01) and have a lower attained education ( p < 0.0001) and perceived fair/poor health ( p < 0.001). The 34.4% of participants requiring risk factor verification for missing/unusual values were more likely to be visible minorities ( p = 0.009) and have a lower attained education ( p ≤ 0.006). This study demonstrates the feasibility of risk assessment for risk-stratified screening at the population level. Implementation should incorporate an equity lens to ensure cancer-screening disparities are not widened.

Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn significant attention to the experiences of intersex individuals and their families. This study contributes to the existing literature by examining the experiences and needs of parents of intersex individuals within genetic healthcare systems, bridging a critical gap, and advocating for more comprehensive and supportive healthcare practices. Semi-structured interviews were conducted with 14 parents of intersex individuals, and reflexive thematic analysis was used to inductively generate four major themes. Themes highlighted the need for improved accessibility of intersex healthcare, the importance of multidisciplinary healthcare teams, and the significance of clinical diagnosis provided by genetics professionals. Furthermore, the study highlighted the necessity of a thoughtful approach to information provision and the impact of genetic investigations on family dynamics. Genetics professionals can play a pivotal role in raising awareness about intersex variations, improving diagnostic processes, collaborating within healthcare teams, and providing specialized support to address psychosocial concerns. The study underscores the importance of treating families as a collective entity and addressing the impact of genetic investigations on the family unit. By addressing the challenges and implementing the recommendations outlined, healthcare institutions can create a more compassionate, inclusive, and effective healthcare environment for the intersex community., (© 2024 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Motivation: Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially identifiable information, similarly to genetic data, most raw files generated by these consortia are stored in controlled-access databases. It is important to protect identifiable information, but this should not hinder secure sharing of these valuable datasets., Results: Guided by the Framework for responsible sharing of genomic and health-related data from the Global Alliance for Genomics and Health (GA4GH), we have developed an approach and a tool to facilitate the exploration of epigenomics datasets' aggregate results, while filtering out identifiable information. Specifically, the EpiVar Browser allows a user to navigate an epigenetic dataset from a cohort of individuals and enables direct exploration of genotype-chromatin phenotype relationships. Because individual genotypes and epigenetic signal tracks are not directly accessible, and rather aggregated in the portal output, no identifiable data is released, yet the interface allows for dynamic genotype-epigenome interrogation. This approach has the potential to accelerate analyses that would otherwise require a lengthy multi-step approval process and provides a generalizable strategy to facilitate responsible access to sensitive epigenomics data., Availability and Implementation: Online portal: https://computationalgenomics.ca/tools/epivar; EpiVar Browser source code: https://github.com/c3g/epivar-browser; bw-merge-window tool source code: https://github.com/c3g/bw-merge-window., (© The Author(s) 2024. Published by Oxford University Press.)

Background: Artificial intelligence (AI)-based chatbots could help address some of the challenges patients face in acquiring information essential to their self-health management, including unreliable sources and overburdened health care professionals. Research to ensure the proper design, implementation, and uptake of chatbots is imperative. Inclusive digital health research and responsible AI integration into health care require active and sustained patient and stakeholder engagement, yet corresponding activities and guidance are limited for this purpose., Objective: In response, this manuscript presents a master protocol for the development, testing, and implementation of a chatbot family in partnership with stakeholders. This protocol aims to help efficiently translate an initial chatbot intervention (MARVIN) to multiple health domains and populations., Methods: The MARVIN chatbots study has an adaptive platform trial design consisting of multiple parallel individual chatbot substudies with four common objectives: (1) co-construct a tailored AI chatbot for a specific health care setting, (2) assess its usability with a small sample of participants, (3) measure implementation outcomes (usability, acceptability, appropriateness, adoption, and fidelity) within a large sample, and (4) evaluate the impact of patient and stakeholder partnerships on chatbot development. For objective 1, a needs assessment will be conducted within the setting, involving four 2-hour focus groups with 5 participants each. Then, a co-construction design committee will be formed with patient partners, health care professionals, and researchers who will participate in 6 workshops for chatbot development, testing, and improvement. For objective 2, a total of 30 participants will interact with the prototype for 3 weeks and assess its usability through a survey and 3 focus groups. Positive usability outcomes will lead to the initiation of objective 3, whereby the public will be able to access the chatbot for a 12-month real-world implementation study using web-based questionnaires to measure usability, acceptability, and appropriateness for 150 participants and meta-use data to inform adoption and fidelity. After each objective, for objective 4, focus groups will be conducted with the design committee to better understand their perspectives on the engagement process., Results: From July 2022 to October 2023, this master protocol led to four substudies conducted at the McGill University Health Centre or the Centre hospitalier de l'Université de Montréal (both in Montreal, Quebec, Canada): (1) MARVIN for HIV (large-scale implementation expected in mid-2024), (2) MARVIN-Pharma for community pharmacists providing HIV care (usability study planned for mid-2024), (3) MARVINA for breast cancer, and (4) MARVIN-CHAMP for pediatric infectious conditions (both in preparation, with development to begin in early 2024)., Conclusions: This master protocol offers an approach to chatbot development in partnership with patients and health care professionals that includes a comprehensive assessment of implementation outcomes. It also contributes to best practice recommendations for patient and stakeholder engagement in digital health research., Trial Registration: ClinicalTrials.gov NCT05789901; https://classic.clinicaltrials.gov/ct2/show/NCT05789901., International Registered Report Identifier (irrid): PRR1-10.2196/54668., (©Yuanchao Ma, Sofiane Achiche, Marie-Pascale Pomey, Jesseca Paquette, Nesrine Adjtoutah, Serge Vicente, Kim Engler, MARVIN chatbots MARVIN chatbots Patient Expert Committee, Moustafa Laymouna, David Lessard, Benoît Lemire, Jamil Asselah, Rachel Therrien, Esli Osmanlliu, Ma'n H Zawati, Yann Joly, Bertrand Lebouché. Originally published in JMIR Research Protocols (https://www.researchprotocols.org), 13.02.2024.)

Background: Internationally, there is a growing interest in the potential benefits of psilocybin-assisted therapy to treat existential distress at the end of life. However, the social acceptability of this therapy is not yet well known., Aim: This study assesses the social acceptability of the medical use of psilocybin to treat existential distress at the end of life., Design: An online survey was conducted in Canada between November 23 and December 4, 2022. The questionnaire included items pertaining to perceptions, attitudes and concerns towards psilocybin-assisted therapy to treat existential distress at the end of life., Participants: The sample ( n  = 2800) was stratified by province, age and sex. Participants were adults from four provinces of Canada: Québec, Ontario, Alberta and British Columbia., Results: Overall, 79.3% considered psilocybin-assisted therapy a reasonable medical choice for a patient suffering from existential distress at the end of life, 84.8% agreed that the public health system should cover the costs of the intervention and 63.3% would welcome the legalisation of psilocybin for medical purposes. Previous psilocybin use ( p  < 0.0001, for all dependent variables), exposure to palliative care ( p  < 0.05, for all dependent variables) and a progressive political orientation ( p  < 0.05, for all dependent variables) were associated with more favourable attitudes towards psilocybin-assisted therapy at the end of life., Conclusion: The social acceptability of psilocybin-assisted therapy for existential distress at the end of life is rather high in Canada. These findings may contribute to efforts to mobilise resources and improve access to this emerging therapy in palliative and end of life care settings., Competing Interests: Declaration of conflicting interestsThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: Houman Farzin and Jean-François Stephan are trainers for the non-profit organisation TheraPsil. Houman Farzin was the Montréal site physician for MAPPUSX, a Phase 3 clinical trial of MDMA-AT for PTSD sponsored by MAPS, and is an early investor in Beckley Psytech.

Participants in the long-running bioethical debate over human germline genetic modification (HGGM) tend to imagine future people abstractly and on the basis of conventionalized characteristics familiar from science fiction, such as intelligence, disease resistance and height. In order to distinguish these from scientifically meaningful terms like "phenotype" and "trait," this article proposes the term "persemes" to describe the units of difference for hypothetical people. In the HGGM debate, persemes are frequently conceptualized as similar, modular entities, like building blocks to be assembled into genetically modified people. They are discussed as though they each would be chosen individually without affecting other persemes and as though they existed as components within future people rather than being imposed through social context. This modular conceptual framework appears to influence bioethical approaches to HGGM by reinforcing the idea of human capacities as natural primary goods subject to distributive justice and supporting the use of objective list theories of well-being. As a result, assumptions of modularity may limit the ability of stakeholders with other perspectives to present them in the HGGM debate. This article examines the historical trends behind the modular framework for genetically modified people, its likely psychological basis, and its philosophical ramifications., Competing Interests: Competing interestsThe authors declare that they have no competing interests., (© The Author(s) 2024.)