Search

Harms and risks to groups and third-parties can be significant in the context of research, particularly in data-centric studies involving genomic, artificial intelligence, and/or machine learning technologies. This article explores whether and how United States federal regulations should be adapted to better align with current ethical thinking and protect group interests. Three aspects of the Common Rule deserve attention and reconsideration with respect to group interests: institutional review board (IRB) assessment of the risks/benefits of research; disclosure requirements in the informed consent process; and criteria for waivers of informed consent. In accordance with respect for persons and communities, investigators and IRBs should systematically consider potential group harm when designing and reviewing protocols, respectively. Research participants should be informed about any potential group harm in the consent process. We call for additional public discussion, empirical research, and normative analysis on these issues to determine the right regulatory and policy path forward. [ABSTRACT FROM AUTHOR]

Despite increased efforts to ensure diversity in genomic research, the exclusion of minority groups from data analyses and publications remains a critical issue. This paper addresses the ethical implications of these exclusions and proposes accountability for reasonableness (A4R) as a framework to promote fairness and equity in research. Originally conceived by Norman Daniels and James Sabin to guide resource allocation in the context of health policy, A4R emphasizes publicity, relevance of reasons, enforcement, and revision as essential for legitimacy and trust in the decision‐making process. The authors argue that A4R is also relevant to resource allocation in research and that, if adequately informed and incentivized by funding agencies, institutional review boards, and scientific journals, researchers are well‐positioned to assess data‐selection justifications. The A4R framework provides a promising foundation for fostering accountability in genomics and other fields, including artificial intelligence, where lack of diversity and pervasive biases threaten equitable benefit sharing. [ABSTRACT FROM AUTHOR]

Even though there is a significant amount of scholarly work examining the ethical issues surrounding human genomics research, little is known about its footing in Malaysia. This study aims to explore the experience of local researchers and research ethics committee (REC) members in developing it in Malaysia. In‐depth interviews were conducted from April to May 2021, and the data were thematically analysed. In advancing this technology, both genomics researchers and REC members have concerns over how this research is being developed in the country especially the absence of a clear ethical and regulatory framework at the national level as a guidance. However, this study argues that it is not a salient issue as there are international guidelines in existence and both researchers and RECs will benefit from a training on the guidelines to ensure genomics research can be developed in an ethical manner. [ABSTRACT FROM AUTHOR]

Objective The NIH All of Us Research Program aims to advance personalized medicine by not only linking patient records, surveys, and genomic data but also engaging with participants, particularly from groups traditionally underrepresented in biomedical research (UBR). This study details how the dialogue between scientists and community members, including many from communities of color, shaped local research priorities. Materials and Methods We recruited area quantitative, basic, and clinical scientists as well as community members from our Community and Participant Advisory Boards with a predetermined interest in All of Us research as members of a Special Interest Group (SIG). An expert community engagement scientist facilitated 6 SIG meetings over the year, explicitly fostering openness and flexibility during conversations. We qualitatively analyzed discussions using a social movement framework tailored for community-based participatory research (CBPR) mobilization. Results The SIG evolved through CBPR stages of emergence, coalescence, momentum, and maintenance/integration. Researchers prioritized community needs above personal academic interests while community members kept discussions focused on tangible return of value to communities. One key outcome includes SIG-driven shifts in programmatic and research priorities of the All of Us Research Program in Southeastern Wisconsin. One major challenge was building equitable conversations that balanced scientific rigor and community understanding. Discussion Our approach allowed for a rich dialogue to emerge. Points of connection and disconnection between community members and scientists offered important guidance for emerging areas of genomic inquiry. Conclusion Our study presents a robust foundation for future efforts to engage diverse communities in CBPR, particularly on healthcare concerns affecting UBR communities. [ABSTRACT FROM AUTHOR]

Access to genomic sequencing (GS) and resulting recommendations have not been well described in pediatric oncology. GS results may provide a cancer predisposition syndrome (CPS) diagnosis that warrants screening and specialist visits beyond cancer treatment, including testing or surveillance for family members. The Texas KidsCanSeq (KCS) Study evaluated implementation of GS in a diverse pediatric oncology population. We conducted semi‐structured interviews (n = 20) to explore experiences of KCS patients' families around learning about a CPS diagnosis and following up on recommended care. We used qualitative content analysis to develop themes and subthemes across families' descriptions of their experiences accessing care and to understand which factors presented barriers and/or facilitators. We found participants had difficulty differentiating which follow‐up care recommendations were made for their child's current cancer treatment versus the CPS. In families' access to follow‐up care for CPS, organizational factors were crucial: travel time and distance were common hardships, while coordination of care to streamline multiple appointments with different providers helped facilitate CPS care. Financial factors also impacted families' access to CPS‐related follow‐up care: having financial assistance and insurance were facilitators for families, while costs and lack of insurance posed as barriers for patients who lost coverage during transitions from pediatric to adult care, and for adult family members who had no coverage. Factors related to beliefs and perceptions, specifically perceiving the risk as less salient to them and feeling overwhelmed with the patient's cancer care, presented barriers to follow‐up care primarily for family members. Regarding social factors, competing life priorities made it difficult for families to access follow‐up care, though having community support alleviated these barriers. We suggest interventions to improve coordination of cancer treatment and CPS‐related care and adherence to surveillance protocols for families as children age, such as care navigators and integrating longitudinal genetic counseling into hereditary cancer centers. [ABSTRACT FROM AUTHOR]

Abstract Introduction Given the growing number of Alzheimer’s Disease and Alzheimer’s Disease Related Dementias (AD/ADRD) genomics research projects and the vulnerabilities of study participants, it is critical to evaluate the literature on the ethical challenges in such studies to ensure high ethical standards. Methods We conducted a systematic review of the literature on ethical issues in AD/ADRD genomics research. We searched Embase, PsycINFO, CiNAHL, Scopus, and Ovid Medline for empirical and normative papers published in peer-reviewed journals on the ethical issues involved in conducting genomics research among persons with AD/ADRD. We used ethical principles from an existing framework as a priori codes to categorize the ethical issues and adapted another framework of Dementia Research Ethical Issues (DREI) as subcategories for our synthesis. We used the 2021 PRISMA guidelines to guide our study. Results We screened 5,509 papers and included 27 of these papers in the systematic review after deduplication, title, and full-text review. The papers contained 109 ethical issues that were mapped against 42 out of 75 relevant DREIs. The highest number of DREIs were mapped to “respect for persons and communities”, “favorable risk-benefit ratio”, “informed consent” and “scientific validity”. The least mapped principles to the DREIs were “fair participant selection”, “independent review”, “social value”, and “collaborative partnership”. Conclusion Our review showed that there is a dearth of literature on the ethical principles of “fair participant selection”, “independent review”, “social value” and “collaborative partnership” in genomics research on AD/ADRDs. It is difficult to draw firm conclusions from the distribution of attention paid to specific principles because these may only reflect the concerns of AD/ADRD genomics research ethicists in high-income countries. There is need for more research on the ethics of AD/ADRD genomics research in low and middle-income countries for a more balanced account of the important ethical considerations in this field.

Abstract Background There is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities. Philanthropic research, which is likely to have predominantly community-minded priorities, is worth over AU$1 billion annually and increased more than 100% between 2007 and 2017. Aims This research aimed to understand public perspectives on community involvement in health-related research activities, and to inform the development of guidelines for genomic researchers to improve this involvement. Methods A 37-question survey was completed by 1,156 members of the Australian public via Dynata. The survey was co-designed by the Involve Australia Working Group of community members within Australian Genomics. Results from 1156 responses were analysed. Results Key themes emerging from the survey data that impact potential involvement were low community confidence to contribute, a limited understanding of community involvement, roles and recognition, trust and governance of data, perceived trustworthiness of research funders, and factors related to time and personal resources. A variety of motivations for involvement were also stated. Conclusion Members of the Australian public are interested in research involvement; however the differences between involvement and participation are poorly understood and a variety of barriers still exist. Researchers must actively reach out into communities and offer opportunities to engage with research and identify community priorities.

Background: There is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities. Philanthropic research, which is likely to have predominantly community-minded priorities, is worth over AU$1 billion annually and increased more than 100% between 2007 and 2017. Aims: This research aimed to understand public perspectives on community involvement in health-related research activities, and to inform the development of guidelines for genomic researchers to improve this involvement. Methods: A 37-question survey was completed by 1,156 members of the Australian public via Dynata. The survey was co-designed by the Involve Australia Working Group of community members within Australian Genomics. Results from 1156 responses were analysed. Results: Key themes emerging from the survey data that impact potential involvement were low community confidence to contribute, a limited understanding of community involvement, roles and recognition, trust and governance of data, perceived trustworthiness of research funders, and factors related to time and personal resources. A variety of motivations for involvement were also stated. Conclusion: Members of the Australian public are interested in research involvement; however the differences between involvement and participation are poorly understood and a variety of barriers still exist. Researchers must actively reach out into communities and offer opportunities to engage with research and identify community priorities. Plain English summary: It is well understood that involving the community in research about them is an important part of good science, and it helps to make sure that health research has a positive impact on communities (people who use the health services). This study aims to understand how the Australian public feels about becoming involved in research about their community's health. A team of community members and researchers from a group called Involve Australia designed a survey to ask members of the Australian public to share their views. The survey was sent out by a company called Dynata and 1,156 people responded. • More than half of the people said they were living with a health condition • One third of the people said that they lived with someone who had a health condition • One third of the people said they had university degrees • Most of the people had Australian ancestry • Under one third of the households earned more than $100,000 per year Only 26 people had been involved in research before, and from these people: • 18 had a university degree • Just over half of the people were working in paid jobs • More than half also worked as volunteers • Half of the households earned more than $100,000 per year All members of the Involve Australia team helped to analyse the survey results for all 1,156 people, which showed us that many people did not understand the difference between involvement and participation. We know this because lots of people said they would not get involved with research because they were worried about their private information being shared or scared of the medicines or procedures (for example, needles) they might have to take. These reflect activities of participation, not involvement. A quarter of the people were worried they did not have enough knowledge or education to become involved in research. They were not confident that they could add value to research. Some people (15%) said they weren't interested in research, but the ones who said they were interested told us they wanted to help with designing the research, helping to write the research papers, and updating their communities on the research. They also said they wanted their work to be recognised and they would like to be paid for their time, and that they would be more likely to get involved if it was easy. For example, they spoke about not travelling a long way, using Zoom and phone, not paying for parking, and making sure the places they had to go were accessible for everyone. People said they were more likely to get involved if they trusted the researcher or the company doing the research. They were more likely to get involved if the organisation was not a private company trying to make money. Most of the people said they would get involved in research that helped someone they loved, or people in their community. Many told us that they wanted younger people with health issues to have a better life than they had, and that they would get involved with research to make that happen. This research shows that community members and researchers should speak with each other more often. People said they wanted to know what research was happening and they also wanted to tell researchers what they thought was most important. The Involve Australia group suggests that research institutions and universities need to have good relationships with the people in their communities, and that researchers need to have time and resources to build these relationships. [ABSTRACT FROM AUTHOR]

Introduction: Given the growing number of Alzheimer’s Disease and Alzheimer’s Disease Related Dementias (AD/ADRD) genomics research projects and the vulnerabilities of study participants, it is critical to evaluate the literature on the ethical challenges in such studies to ensure high ethical standards. Methods: We conducted a systematic review of the literature on ethical issues in AD/ADRD genomics research. We searched Embase, PsycINFO, CiNAHL, Scopus, and Ovid Medline for empirical and normative papers published in peer-reviewed journals on the ethical issues involved in conducting genomics research among persons with AD/ADRD. We used ethical principles from an existing framework as a priori codes to categorize the ethical issues and adapted another framework of Dementia Research Ethical Issues (DREI) as subcategories for our synthesis. We used the 2021 PRISMA guidelines to guide our study. Results: We screened 5,509 papers and included 27 of these papers in the systematic review after deduplication, title, and full-text review. The papers contained 109 ethical issues that were mapped against 42 out of 75 relevant DREIs. The highest number of DREIs were mapped to “respect for persons and communities”, “favorable risk-benefit ratio”, “informed consent” and “scientific validity”. The least mapped principles to the DREIs were “fair participant selection”, “independent review”, “social value”, and “collaborative partnership”. Conclusion: Our review showed that there is a dearth of literature on the ethical principles of “fair participant selection”, “independent review”, “social value” and “collaborative partnership” in genomics research on AD/ADRDs. It is difficult to draw firm conclusions from the distribution of attention paid to specific principles because these may only reflect the concerns of AD/ADRD genomics research ethicists in high-income countries. There is need for more research on the ethics of AD/ADRD genomics research in low and middle-income countries for a more balanced account of the important ethical considerations in this field. [ABSTRACT FROM AUTHOR]

(1) Background: Mengshan cattle from the Yimeng mountainous region in China stand out as a unique genetic resource, known for their adaptive traits and environmental resilience. However, these cattle are currently endangered and comprehensive genomic characterization remains largely unexplored. This study aims to address this gap by investigating the genomic features and selection signals in Mengshan cattle. (2) Methods: Utilizing whole-genome resequencing data from 122 cattle, including 37 newly sequenced Mengshan cattle, we investigated population structure, genetic diversity, and selection signals. (3) Results: Our analyses revealed that current Mengshan cattle primarily exhibit European taurine cattle ancestry, with distinct genetic characteristics indicative of adaptive traits. We identified candidate genes associated with immune response, growth traits, meat quality, and neurodevelopment, shedding light on the genomic features underlying the unique attributes of Mengshan cattle. Enrichment analysis highlighted pathways related to insulin secretion, calcium signaling, and dopamine synapse, further elucidating the genetic basis of their phenotypic traits. (4) Conclusions: Our results provide valuable insights for further research and conservation efforts aimed at preserving this endangered genetic resource. This study enhances the understanding of population genetics and underscores the importance of genomic research in informing genetic resources and conservation initiatives for indigenous cattle breeds. [ABSTRACT FROM AUTHOR]

The concept of informed consent seems to be important in scientific research involving medical interventions and in clinical practice. This makes the study of this legal institution timely and relevant. Purpose: based on the results of the analysis of the formation and development of the institution of informed consent, to identify trends in its further development. Methods: systemic and structural-functional analysis, as well as special legal methods: comparative legal, formal legal, legal modeling, interpretation. Results: the article gives scientifically based proposals for improving the legal institution of informed consent. The article substantiates the conclusion that the content of consent should be absolutely transparent and understandable to all subjects involved, so that it really acts as an effective means of legal regulation of social relations related to medical intervention or research.

In genomic research, establishing a relationship among variables is usually of interest. Genomic research usually links factors. DNA microarray gene expression data introduces novel molecular biology and medical data analysis issues. In scientific data, Frequent Pattern Mining successfully applied association patterns discovered in microarray gene expression analysis. Discretization and association rule mining plays an important role in bioinformatics. Traditional pattern-finding approaches need many DNA sequence scans. The issue is recognizing intriguing patterns to make time-consuming and disagreeable judgments. The paper proposes a novel technique for identifying frequent patterns in DNA sequences and analyzing microarray gene expression profiling data. It first discovers frequent patterns from DNA sequences, then performs association rule mining and clustering discretization on the gene expression data using Fuzzy C-Means and PBMF index. A hybrid Diff-Eclat algorithm is employed to generate strong association rules and improves performance by microarray gene expression data's prediction. Finally, a GA-ANN (Genetic Algorithm-Artificial Neural Network) model is developed to predict biological knowledge from the discriminant rules. The method is implemented on a gene expression dataset and shows improved performance compared with SVM(Support Vector Machine), CNN(Convolutional Neural Network), RF(Random Forest) based on various metrics. The frequent patterns found in DNA sequence that were discovered during this approach have significant implications for medical data analyses like disease etiology, treatment analysis, mutation, and genetic analysis. [ABSTRACT FROM AUTHOR]

Initiatives that collect and share genomic data to advance health research are widespread and accelerating. Commercial interests in these efforts, while vital, may erode public trust and willingness to provide personal genomic data, upon which these initiatives depend. Understanding public attitudes towards providing genomic data for health research in the context of commercial involvement is critical. A PRISMA-guided search of six online academic databases identified 113 quantitative and qualitative studies using primary data pertaining to public attitudes towards commercial actors in the management, collection, access, and use of biobank and genomic data. The presence of commercial interests yields interrelated public concerns around consent, privacy and data security, trust in science and scientists, benefit sharing, and the ownership and control of health data. Carefully considered regulatory and data governance and access policies are therefore required to maintain public trust and support for genomic health initiatives. [ABSTRACT FROM AUTHOR]

Addressing health disparities has become a central remit for conducting health research. In the following paper, we explore the conceptual and methodological challenges posed by the call to recruit medically underserved populations. This exploration of challenges is undertaken from the perspective of social science researchers embedded in a large within a clinical genomics research study. We suggest that these challenges are found in respect to the development of recruiting strategies, analysis of the data in respect to understanding and interpreting the experiences of being medically underserved, and in comparing the experiences of being medically underserved compared to not being underserved. By way of conclusion, it is argued that there is important role for social scientists with large health research studies which, if achieved successfully, can benefit study teams and society as a whole.

Abstract Background Biobanking and genomic research requires collection and storage of human tissue from study participants. From participants’ perspectives within the African context, this can be associated with fears and misgivings due to a myriad of factors including myths and mistrust of researchers. From the researchers angle ethical dilemmas may arise especially with consenting and sample reuse during storage. The aim of this paper was to explore these ethical considerations in the establishment and conduct of biobanking and genomic studies in Africa. Methods We conducted a narrative synthesis following a comprehensive search of nine (9) databases and grey literature. All primary research study designs were eligible for inclusion as well as both quantitative and qualitative evidence from peer reviewed journals, spanning a maximum of 20 years (2000–2020). It focused on research work conducted in Africa, even if data was stored or analysed outside the region. Results Of 2,663 title and abstracts screened, 94 full texts were retrieved and reviewed for eligibility. We included 12 studies (7 qualitative; 4 quantitative and one mixed methods). Ethical issues described in these papers related to community knowledge and understanding of biobanking and genomic research, regulation, and governance of same by research ethics committees, enrolment of participants, types of informed consents, data collection, storage, usage and sharing as well as material transfer, returning results and benefit sharing. ca. Biospecimen collection and storage is given in trust and participants expect confidentially of data and results generated. Most participants are comfortable with broad consent due to trust in researchers, though a few would like to be contacted for reconsenting in future studies, and this would depend on whether the new research is for good cause. Sharing data with external partners is welcome in some contexts but some research participants did not trust foreign researchers. Conclusion Biobanking and genomic studies are a real need in Africa. Linked to this are ethical considerations related to setting up and participation in biobanks as well as data storage, export, use and sharing. There is emerging or pre-existing consensus around the acceptability of broad consent as a suitable model of consent, the need for Africans to take the lead in international collaborative studies, with deliberate efforts to build capacity in local storage and analysis of samples and employ processes of sample collection and use that build trust of communities and potential study participants. Research ethics committees, researchers and communities need to work together to work together to adapt and use clearly defined ethical frameworks, guidelines, and policy documents to harmonize the establishment and running of biobanking and genomic research in Africa.

Introduction: Indigenous Peoples are increasingly exerting governance and oversight over genomic research with citizens of their nations, raising questions about how best to enforce research regulation between American Indian, Alaska Native, and Native Hawaiian peoples and researchers. Methods: Using a community-engaged research approach, we conducted 42 semi-structured interviews with Tribal leaders, clinicians, researchers, policy makers, and Tribal research review board members about their perspectives on ethical issues related to genetics research with Indigenous Peoples in the US. Results: We report findings related to (1) considerations for Indigenous governance, (2) institutional relationships upholding sovereignty, (3) expectations for research approvals, and (4) agreements enacting Indigenous governance. Participants described concerns about different ways of exerting oversight, relationships and agreements between Indigenous Peoples and researchers, and gaps that need to be addressed to strengthen existing governance of genomic data. Discussion: The results will ultimately guide policy-making and development of new strategies for Indigenous Peoples to enforce oversight in research to promote ethically and culturally appropriate research. [ABSTRACT FROM AUTHOR]

Background: Biobanking and genomic research requires collection and storage of human tissue from study participants. From participants' perspectives within the African context, this can be associated with fears and misgivings due to a myriad of factors including myths and mistrust of researchers. From the researchers angle ethical dilemmas may arise especially with consenting and sample reuse during storage. The aim of this paper was to explore these ethical considerations in the establishment and conduct of biobanking and genomic studies in Africa. Methods: We conducted a narrative synthesis following a comprehensive search of nine (9) databases and grey literature. All primary research study designs were eligible for inclusion as well as both quantitative and qualitative evidence from peer reviewed journals, spanning a maximum of 20 years (2000–2020). It focused on research work conducted in Africa, even if data was stored or analysed outside the region. Results: Of 2,663 title and abstracts screened, 94 full texts were retrieved and reviewed for eligibility. We included 12 studies (7 qualitative; 4 quantitative and one mixed methods). Ethical issues described in these papers related to community knowledge and understanding of biobanking and genomic research, regulation, and governance of same by research ethics committees, enrolment of participants, types of informed consents, data collection, storage, usage and sharing as well as material transfer, returning results and benefit sharing. ca. Biospecimen collection and storage is given in trust and participants expect confidentially of data and results generated. Most participants are comfortable with broad consent due to trust in researchers, though a few would like to be contacted for reconsenting in future studies, and this would depend on whether the new research is for good cause. Sharing data with external partners is welcome in some contexts but some research participants did not trust foreign researchers. Conclusion: Biobanking and genomic studies are a real need in Africa. Linked to this are ethical considerations related to setting up and participation in biobanks as well as data storage, export, use and sharing. There is emerging or pre-existing consensus around the acceptability of broad consent as a suitable model of consent, the need for Africans to take the lead in international collaborative studies, with deliberate efforts to build capacity in local storage and analysis of samples and employ processes of sample collection and use that build trust of communities and potential study participants. Research ethics committees, researchers and communities need to work together to work together to adapt and use clearly defined ethical frameworks, guidelines, and policy documents to harmonize the establishment and running of biobanking and genomic research in Africa. [ABSTRACT FROM AUTHOR]

Purpose: With increased use of genomic testing in cancer research and clinical care, it is important to understand the perspectives and decision-making preferences of adolescents and young adults (AYAs) with cancer and their treating oncologists. Methods: We conducted an interview substudy of the BASIC3 Study, which enrolled newly diagnosed cancer patients <18 years of age with assent. Of 32 young adults (YAs) with cancer who reached the age of majority (AOM; 18 years) while on study, 12 were successfully approached and all consented to study continuation at AOM. Of those, seven completed an interview. Patients' oncologists, who enrolled and participated in return of clinical genomic results, were also interviewed (n = 12). Interviews were transcribed, deidentified, and analyzed using thematic analysis. Results: YAs cited the possibility of helping others and advancing science as major reasons for their assent to initial study enrollment and their willingness to consent at AOM. YAs thought obtaining informed consent from research participants for study continuation at AOM was a good idea in case they changed their minds or wanted to make their own decisions, and to keep them aware of study activities. There was diversity in what YAs understood and learned from genomic testing: some recalled specific findings, while some remembered minimal information about their results. Oncologists varied in their assessment of adolescents' engagement with the study and understanding of their results. Conclusion: Given the different ways AYAs engage with genomic information, careful assessment of AYAs' diverse communication and decision-making preferences is needed to tailor interactions accordingly. [ABSTRACT FROM AUTHOR]

Although genomic research offering next‐generation sequencing (NGS) has increased the diagnoses of rare/ultra‐rare disorders, populations experiencing health disparities infrequently participate in these studies. The factors underlying non‐participation would most reliably be ascertained from individuals who have had the opportunity to participate, but decline. We thus enrolled parents of children and adult probands with undiagnosed disorders who had declined genomic research offering NGS with return of results with undiagnosed disorders (Decliners, n = 21) and compared their data to those who participated (Participants, n = 31). We assessed: (1) practical barriers and facilitators, (2) sociocultural factors—genomic knowledge and distrust, and (3) the value placed upon a diagnosis by those who declined participation. The primary findings were that residence in rural and medically underserved areas (MUA) and higher number of barriers were significantly associated with declining participation in the study. Exploratory analyses revealed multiple co‐occurring practical barriers, greater emotional exhaustion and research hesitancy in the parents in the Decliner group compared to the Participants, with both groups identifying a similar number of facilitators. The parents in the Decliner group also had lower genomic knowledge, but distrust of clinical research was not different between the groups. Importantly, despite their non‐participation, those in the Decliner group indicated an interest in obtaining a diagnosis and expressed confidence in being able to emotionally manage the ensuing results. Study findings support the concept that some families who decline participation in diagnostic genomic research may be experiencing pile‐up with exhaustion of family resources – making participation in the genomic research difficult. This study highlights the complexity of the factors that underlie non‐participation in clinically relevant NGS research. Thus, approaches to mitigating barriers to NGS research participation by populations experiencing health disparities need to be multi‐pronged and tailored so that they can benefit from state‐of ‐the art genomic technologies. [ABSTRACT FROM AUTHOR]

Introduction. In modern conditions of rapid development of genomics, the formation of a database of genetic testing of the Russian population, the legislative framework that effectively protects human rights and legitimate interests is only being formed in Russia. Theoretical analysis. Genetic information is of interest not only for a person who has undergone genetic testing, but also for his / her family members, the state in the organization of personalized medicine, employers, insurers, bankers. This situation is associated with violations of the constitutional rights of citizens to personal dignity, privacy, personal and family secrets, and non-discrimination. Empirical analysis. The problems of legal support of the constitutional rights of citizens in connection with the progress of genomics in various fields are revealed: in healthcare, marital, labor, insurance, banking relations, which requires prompt legislative regulation. Results. The vectors of the development of human rights protection in connection with the development of genomics are substantiated, taking into account the discussion of the most appropriate solutions in the legislation of foreign countries, allowing for a fair balance of interests of the owner of personal genetic information and third parties, with maximum minimization of potential risks of violation of constitutional rights.

IntroductionIndigenous Peoples are increasingly exerting governance and oversight over genomic research with citizens of their nations, raising questions about how best to enforce research regulation between American Indian, Alaska Native, and Native Hawaiian peoples and researchers.MethodsUsing a community-engaged research approach, we conducted 42 semi-structured interviews with Tribal leaders, clinicians, researchers, policy makers, and Tribal research review board members about their perspectives on ethical issues related to genetics research with Indigenous Peoples in the US.ResultsWe report findings related to (1) considerations for Indigenous governance, (2) institutional relationships upholding sovereignty, (3) expectations for research approvals, and (4) agreements enacting Indigenous governance. Participants described concerns about different ways of exerting oversight, relationships and agreements between Indigenous Peoples and researchers, and gaps that need to be addressed to strengthen existing governance of genomic data.DiscussionThe results will ultimately guide policy-making and development of new strategies for Indigenous Peoples to enforce oversight in research to promote ethically and culturally appropriate research.

In both the EU and USA, genetic data are recognized as a special category of data that requires heightened privacy protection. Identifiability and sensitivity are central pillars of the regulatory framework in both jurisdictions: the privacy concerns stem from the assumption that genetic data are capable of identifying the individual and reveals sensitive information about them. But not all genetic data are identifiable and sensitive, nor are genetic data necessarily different from other types of big data in terms of these issues. This article argues that a more nuanced approach is needed to assess the threat to privacy interests posed by uses of genetic data. The privacy interests involved should be distinguished in terms of proposed use, the amount of data in question, and its uniqueness and informational content. When these factors are disaggregated, it is clear that both regulatory schemes could better achieve their goals by focusing more on the ways genetic data can be used rather than on their status as a special category of data. [ABSTRACT FROM AUTHOR]

Genomic contamination poses a significant challenge in bioinformatics and genomics research, potentially skewing results and leading to erroneous conclusions. Various tools have been developed to detect contamination, but their efficacy can be influenced by factors such as Horizontal Gene Transfer (HGT) and taxonomic ranks. In this article, we evaluate genomic contamination detection tools and investigate how HGT impacts their efficiency through contamination simulations across different taxonomic ranks. Our findings shed light on the complexities of contamination detection and offer insights into improving these tools for more accurate genomic analyses. [ABSTRACT FROM AUTHOR]

Background: Psychiatric genomic research is a growing field of research in Africa that is looking at epigenetics of psychiatric disorders; within which a specific focus is neurodevelopmental disorders including intellectual disability (ID). Conducting this type of research is important to identify etiologies and possible interventions or areas for further research. However, genomic research generally, and psychiatric genomic research, faces many social, ethical, cultural, and legal issues; research involving people with ID is particularly challenging. All research stakeholders - researchers, research review bodies, regulators, patient groups - generally agree that involving people with ID require several considerations, including extra protection. It is also recognized that not involving people with ID in research that is relevant to them means that opportunities to learn on specific issues including lived experiences are missed. In this scoping review, we aim to describe the range of ethical and social-cultural issues concerning involvement of people with intellectual disability in genomic research from existing literature. Methods: This scoping review will be conducted based on the Joanna Briggs Institute guidance for scoping review and reported using the PRISMA-ScR guidelines. Iterative review stages will include systematic search of six databases (Embase, Ovid Global Health, PubMed, Scopus, PsycInfo and Web of Science core collection), screening, charting and synthesis of the data. Forward and backward citation screening will also be done for the articles included in the final review. We will include peer reviewed journal articles, guidance documents and reports. Screening and selection of studies based on the eligibility criteria will be done independently by three reviewers; conflicts will be resolved through discussion with a third reviewer and other experts. Results: The results will be included in the scoping review publication. Conclusions: This scoping review will identify key areas of ethical tensions and possible solutions and inform opportunities for empirical ethics studies.

Addressing health disparities has become a central remit for conducting health research. In the following paper, we explore the conceptual and methodological challenges posed by the call to recruit medically underserved populations. This exploration of challenges is undertaken from the perspective of social science researchers embedded in a large clinical genomics research study. We suggest that these challenges are found in respect to the development of recruiting strategies, analysis of the data in respect to understanding and interpreting the experiences of being medically underserved, and in comparing the experiences of being medically underserved compared to not being underserved. By way of conclusion, it is argued that there is an important role for social scientists with large health research studies which, if achieved successfully, can benefit study teams and society as a whole.

The recent development of paleogenetics has had a large impact on much of archaeology. Particularly surprising has been the discovery of a connection between the Iberian Peninsula and the Eurasian steppes, an unexpected link between the first stages of metallurgy at opposite ends of Europe. Recent studies of human remains from Copper and Bronze Age Spain and Portugal have shown a significant presence of genomes of types geneticists attribute to the Yamnaya culture and historical community. Geneticists had already identified this genome in central European archaeological contexts. Interpretation of these results has led to controversy concerning their historical significance and their importance for explaining important cultural changes, such as the origin of the Bronze Age in Iberia. As a result, many Spanish and Portuguese prehistorians have “discovered” the cultures of the steppes. Their inclusion has broadened and enriched debates concerning Iberian prehistory. This article reviews recent literature so as to assess the state of play on the contribution of paleogenetics to Iberian prehistory and to reflect on the impact of the Yamnaya culture’s unexpected burst onto its scene.

Abstract Background Limited research has been conducted on explanations and understandings of biobanking for future genomic research in African contexts with low literacy and limited healthcare access. We report on the findings of a sub-study on participant understanding embedded in a multi-disease community health screening and biobank platform study known as ‘Vukuzazi’ in rural KwaZulu-Natal, South Africa. Methods Semi-structured interviews were conducted with research participants who had been invited to take part in the Vukuzazi study, including both participants and non-participants, and research staff that worked on the study. The interviews were transcribed, and themes were identified from the interview transcripts, manually coded, and thematically analysed. Results Thirty-nine individuals were interviewed. We found that the research team explained biobanking and future genomic research by describing how hereditary characteristics create similarities among individuals. However, recollection and understanding of this explanation seven months after participation was variable. The large volume of information about the Vukuzazi study objectives and procedures presented a challenge to participant recall. By the time of interviews, some participants recalled rudimentary facts about the genetic aspects of the study, but many expressed little to no interest in genetics and biobanking. Conclusion Participant’s understanding of information related to genetics and biobanking provided during the consent process is affected by the volume of information as well as participant’s interest (or lack thereof) in the subject matter being discussed. We recommend that future studies undertaking biobanking and genomic research treat explanations of this kind of research to participants as an on-going process of communication between researchers, participants and the community and that explanatory imagery and video graphic storytelling should be incorporated into theses explanations as these have previously been found to facilitate understanding among those with low literacy levels. Studies should also avoid having broader research objectives as this can divert participant’s interest and therefore understanding of why their samples are being collected.

Advances in genomic research, biobanking and DNA identification technologies are expanding the use of biological and genetic evidence in litigation. The discovery of DNA and one of its functions to transmit hereditary information made it possible to look differently at the theory of a genetic predisposition to deviant behavior. The relevance of the study is due to the fact that the availability and increase of genetic research allows, along with the traditional use of genetic expertise in litigation (search and identification of a criminal, establishment of paternity), to expand the possibility of using the achievements of genetics by the parties to prove other circumstances in court. In this article, the authors analyze the US jurisprudence regarding the possibility of a party using the protection of genetic evidence in order to present a position in justification of the mitigation of punishment for an accused due to her genetic predisposition to criminal behavior. The authors also paid attention to the consideration of the issue of using the results of genetic testing in civil proceedings in order to prove the fact of the influence of the inherited gene on deviant behavior. In carrying out this study, the authors used a significant number of Russian and foreign sources of scientific literature. General and specific scientific methods of cognition, including the formal legal and comparative legal method, were used as research methods

Several studies have reported inadequate comprehension of informed consent for genomic research. This study aimed to assess research participants' understanding of critical elements of informed consent for genomic research. A cross-sectional survey involving 123 parents/caregivers of children participating in a paediatric genomic TB/HIV study was conducted. Only 47.2% of the participants had adequate understanding of consent information. The mean objective (actual) and subjective (perceived) understanding scores were 78.7% and 91.7% respectively. Participants adequately understood most elements of consent however, some elements were poorly understood including foreseeable risks, protection of confidentiality and compensation for research related injury. Overall there was inadequate comprehension of critical elements of informed consent and there was dissonance between actual and perceived comprehension of informed consent. [ABSTRACT FROM AUTHOR]

Combining datasets into larger and separate datasets is becoming increasingly common, and personal identifiers are often removed in order to maintain participant anonymity. Views of research participants on the use of de-identified data in large research datasets are important for future projects, such as the Precision Medicine Initiative and Cancer Moonshot Initiative. This quantitative study set in the USA examines participant preferences and evaluates differences by demographics and cancer history. Study participants were recruited from the Northwest Cancer Genetics Registry and included cancer patients, their relatives, and controls. A secure online survey was administered to 450 participants. While the majority participants were not concerned about personal identification when participating in a genetic study using de-identified data, they expressed their concern that researchers protect their privacy and information. Most participants expressed a desire that their data should be available for as many research studies as possible, and in doing so, they would increase their chance of receiving personal health information. About 20% of participants felt that a link should not be maintained between the participant and their de-identified data. Reasons to maintain a link included an ability to return individual health results and an ability to support further research. Knowledge of participants' attitudes regarding the use of data into a research repository and the maintenance of a link to de-identified data is critical to the success of recruitment into future genomic research projects.

Abstract Background Clinical genomic professionals are increasingly facing decisions about returning incidental findings (IFs) from genetic research. Although previous studies have shown that research participants are interested in receiving IFs, yet there has been an argument about the extent of researcher obligation to return IFs. We aimed in this study to explore the perspectives of clinical genomics professionals toward returning incidental findings from genomic research. Methods We conducted a national survey of a sample (n = 113) of clinical genomic professionals using a convenient sampling. A self-administered questionnaire was used to explore their attitudes toward disclosure of IFs, their perception of the duties to return IFs and identifying the barriers for disclosure of IFs. A descriptive analysis was employed to describe participants' responses. Results Sixty-five (57.5%) respondents had faced IFs in their practice and 31 (27.4%) were not comfortable in discussing IFs with their research subjects. Less than one-third of the respondents reported the availability of guidelines governing IFs. The majority 84 (80%) and 69 (62.7%) of the study participants indicated they would return the IFs if the risk of disease threat ≥ 50% and 6–49%, respectively and 36 (31.9%) reported they have no obligation to return IFs. Conclusion Clinical genomics professionals have positive attitudes and perceptions toward the returning IFs from genomic research, yet some revealed no duty to do so. Detailed guidelines must be established to provide insights into how genomics professionals should be handled IFs.

Simple Summary: Non-specific uterine infections in bovine (uterine line inflammation) are a significant issue for the dairy industry. These infections are responsible for significant financial losses all over the world. Paraclostridium bifermentans is an obligate anaerobe, gram-positive rod-shaped bacteria belonging to the Clostridia class and the Peptostreptococcaceae family produces endospores. This bacterium has the ability to infiltrate bovine uterine endometrial epithelial cells and cause infection in the endometrium epithelial cells. Our study found that an examination of a buffalo uterus with yellowish purulent discharge reported the presence of pathogenic bacteria Paraclostridium bifermentans, where its genomic characterization, substrate utilization, and antibiotic susceptibility potentiality was studied. This discovery indicates the presence of virulence genes as well as pathogenic features. This is the first report of P. bifermentans from the bovine uterus environment. Chronic non-specific contamination of the reproductive tract in animals is a major issue during early postpartum, natural coitus, or artificial insemination. Uterine infection is one of the major concerns reducing fertility, production loss, and early culling of the animals. Therefore, the aim of this study was to identify any novel bacterium if present in the uterine environment of Bubalus bubalis causing infections. A strictly anaerobic bacterial strain designated as Paraclostridium bifermentans GBRC was isolated and characterized. Bacterium was found to be Gram positive moderate rod with motility. The optimum growth was observed at 40 ± 2 °C. The pathogenic characteristics of the GBRC strain, such as hemolysis, gelatin hydrolysis, and the production of volatile sulfur compounds, were similar to those seen in the epithelial layer invading pathogenic strains. Assembled genome size was 3.6 MB, with 78 contigs, and a G + C content of 28.10%. Furthermore, the whole genome sequence analysis confirmed the presence of genes encoding virulence factors and provided genomic insights on adaptation of the strain in the uterine environment. Based on the phenotypic and genetic differences with phylogenetic relatives, strain GBRC is proposed to represent a first reported species of the genus Paraclostridium with potential pathogenic character, from the buffalo uterine environment. This study analysis of the GBRC strain serves as a key reference point for the investigation of potential pathogenic strains that may cause endometritis and metritis in bovine. [ABSTRACT FROM AUTHOR]

Background: Limited research has been conducted on explanations and understandings of biobanking for future genomic research in African contexts with low literacy and limited healthcare access. We report on the findings of a sub-study on participant understanding embedded in a multi-disease community health screening and biobank platform study known as 'Vukuzazi' in rural KwaZulu-Natal, South Africa.Methods: Semi-structured interviews were conducted with research participants who had been invited to take part in the Vukuzazi study, including both participants and non-participants, and research staff that worked on the study. The interviews were transcribed, and themes were identified from the interview transcripts, manually coded, and thematically analysed.Results: Thirty-nine individuals were interviewed. We found that the research team explained biobanking and future genomic research by describing how hereditary characteristics create similarities among individuals. However, recollection and understanding of this explanation seven months after participation was variable. The large volume of information about the Vukuzazi study objectives and procedures presented a challenge to participant recall. By the time of interviews, some participants recalled rudimentary facts about the genetic aspects of the study, but many expressed little to no interest in genetics and biobanking.Conclusion: Participant's understanding of information related to genetics and biobanking provided during the consent process is affected by the volume of information as well as participant's interest (or lack thereof) in the subject matter being discussed. We recommend that future studies undertaking biobanking and genomic research treat explanations of this kind of research to participants as an on-going process of communication between researchers, participants and the community and that explanatory imagery and video graphic storytelling should be incorporated into theses explanations as these have previously been found to facilitate understanding among those with low literacy levels. Studies should also avoid having broader research objectives as this can divert participant's interest and therefore understanding of why their samples are being collected. [ABSTRACT FROM AUTHOR]

Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the phenotype, and the current treatment options are often unsatisfactory. Most vascular anomalies are sporadic, but patterns of inheritance have been noted in some cases, making genetic analysis relevant. Developments in the field of genomics, including next-generation sequencing, have provided novel insights into the genetic and molecular pathophysiological mechanisms underlying vascular anomalies. These insights may pave the way for new approaches to molecular diagnosis and potential disease-specific therapies. This article provides an introduction to genetic testing for vascular anomalies and presents a brief summary of the etiology and genetics of vascular anomalies.

The paper is a brief presentation of the similarities between human and rabbit in the context of biomedical research. The genetic similarities, mammalian physiology, disease susceptibility, reproductive biology, ease of manipulation, phenotypic variability, and practical relevance of rabbits make them an invaluable genetic model for studying human health and disease. By leveraging the strengths of rabbit genetics research, scientists can gain valuable insights into the genetic basis of human biology and develop novel strategies for disease prevention, diagnosis, and treatment. [ABSTRACT FROM AUTHOR]

Chayote (Sechium edule), a member of the Cucurbitaceae family, is cultivated throughout tropical and subtropical regions of the world and utilized in pharmaceutical, cosmetic and food industries because it is an excellent source of minerals, dietary fibers, protein, vitamins, carotenoids, polysaccharides, phenolic and flavonoid compounds, and other nutrients. Chayote extracts process various medicinal properties, such as anti-cardiovascular, antidiabetic, antiobesity, antiulcer, and anticancer properties. With the rapid advancements of molecular biology and sequencing technology, studies on chayote have been carried out. Research advances, including molecular makers, breeding, genomic research, chemical composition, and pests and diseases, regarding chayote are reviewed in this paper. Future exploration and application trends are briefly described. This review provides a reference for basic and applied research on chayote, an important Cucurbitaceae vegetable crop.

Chayote (Sechium edule), a member of the Cucurbitaceae family, is cultivated throughout tropical and subtropical regions of the world and utilized in pharmaceutical, cosmetic and food industries because it is an excellent source of minerals, dietary fibers, protein, vitamins, carotenoids, polysaccharides, phenolic and flavonoid compounds, and other nutrients. Chayote extracts process various medicinal properties, such as anti-cardiovascular, antidiabetic, antiobesity, antiulcer, and anticancer properties. With the rapid advancements of molecular biology and sequencing technology, studies on chayote have been carried out. Research advances, including molecular makers, breeding, genomic research, chemical composition, and pests and diseases, regarding chayote are reviewed in this paper. Future exploration and application trends are briefly described. This review provides a reference for basic and applied research on chayote, an important Cucurbitaceae vegetable crop. [ABSTRACT FROM AUTHOR]

This study sheds light on the attitudes and circumstances that influence decisions by families to donate the brain of a deceased family member for research. This study, a part of the Genotype-Tissue Expression (GTEx) project, interviewed families of patients who had authorized organ and/or tissue donation for transplantation. A total of 384 family decision makers (FDMs) who decided to donate organs and/or tissues for transplantation were also asked to donate to GTEx. Of these, 297 families were asked to donate their loved one's whole brain and 87 families responded to a hypothetical request for brain donation. The decision to donate the brain to GTEx, actually or hypothetically, was the major outcome measure. The majority of the FDMs would choose to donate the brain, 78%. Unwillingness to donate the brain was associated with four attitudes: (1) the FDM unwillingness to donate their own tissues for research (OR 1.91, 95% CI.67 to 2.96; p =.05), (2) concern with potential for-profit use of tissues (OR 2.12, 95% CI 1.2 to 3.7; p =.008), (3) reported squeamishness about tissue donation (OR 1.34, 95% CI 1.1 to 1.7; p =.006), and (4) belief that FDMs should have a say in how the donated tissues are used (OR 1.36, 95% CI 1.13 to 1.5; p =.01). Organ and tissue donors may present a plenteous source of brains for research. Family concerns about tissue use and collection should be addressed by requesters. [ABSTRACT FROM AUTHOR]

Previous research has consistently highlighted the importance of stakeholder engagement in identifying and developing solutions to ethical challenges in genomic research, especially in Africa where such research is relatively new. In this paper, we examine what constitutes good ethical practice in research, from the perspectives of genomic research participants in Uganda. Our study was part of a multi-site qualitative study exploring these issues in Uganda, Ghana and Zambia. We purposively sampled various stakeholders including genomic research participants, researchers, research ethics committee members, policy makers and community members. This paper presents the findings from in-depth interviews with 27 people with diabetes who had participated in a diabetes genomic study. Data were collected using semi-structured interviews. Manual thematic content analysis was conducted using a framework approach. Findings indicate three key requirements that research participants see as vital for genomic research to be more responsive to research participants’ needs and contextual realities: (1) de-emphasising the role of experts and institutions in the consenting process, (2) clarity about the timing and nature of feedback both of findings relevant to the health of individuals and about the broad progress of the study, and (3) more effective support for research participants during and after the study.

Transcription factors (TFs) recognize and bind to specific DNA sequences, thereby altering the chromatin structure and regulating transcription. TFs aid in the formation of a guide genome that facilitates the expression of genes under complex regulation. Understanding the underlying mechanism that mediates the TF-led regulation of gene expression is a popular topic in current genomic research. However, identifying the precise TF binding site (TFBS) and the specific role of the TFs in transcriptional regulation is challenging. This article summarizes the status of research concerning the prediction of TFBS. First, the experimental methods for identifying TFBS have been summarized by accessing related databases. Second, the machine learning methods for predicting TFBS, especially deep learning, have been summarized. Finally, the study elaborates on the main challenges faced in TFBS prediction. The purpose of this article is to provide researchers with a comprehensively understand the prediction of TFBS and to promote further development in this field.

Background: Lifestyle and life-environment factors have undergone drastic changes in Japan over the last few decades. Further, many molecular epidemiologic studies have reported that genetic, epigenetic, and other biomarker information may be useful in predicting individual disease risk. Methods: The Japan Public Health Center-based Prospective Study for the Next Generation (JPHC-NEXT) was launched in 2011 to identify risk factors for lifestyle-related disease, elucidate factors that extend healthy life expectancy, and contribute toward personalized healthcare based on our more than 20 years’ experience with the JPHC Study. From 2011 through 2016, a baseline survey was conducted at 16 municipalities in seven prefectures across the country. A self-administered questionnaire was distributed to all registered residents aged 40–74, which mainly asked about lifestyle factors, such as socio-demographic situation, personal medical history, smoking, alcohol and dietary habits. We obtained informed consent from each participant to participate in this long follow-up study of at least 20 years, including consent to the potential use of their residence registry, medical records, medical fee receipts, care insurance etc., and to the provision of biospecimens (blood and urine), including genomic analysis. Results: As of December 31, 2016, we have established a population-based cohort of 115,385 persons (Response rate 44.1%), among whom 55,278 (47.9% of participants) have provided blood and urine samples. The participation rate was slightly higher among females and in the older age group. Conclusion: We have established a large-scale population-based cohort for next-generation epidemiological study in Japan.

This article is devoted to the analysis of the genomic research legal regulation in the Russian Federation and the USA. In the United States, in addition to the legislation great importance is attached to medical and scientific institutions self-regulation, and such information is usually open. It is concluded that in Russia, despite the presence of both state and non-state scientific institutions engaged in genomic research, the mechanism of self-regulation as a whole is fragmented. It is also noted that Russia and the United States have specific legal regulation of these relations, which is reflected in the text of the article. For example, in the United States, unlike Russia, most organizations conducting genomic research, including genomic testing, are non-governmental. Currently, the general trend in the legal regulation of genomic research in Russia and the USA is the active development of normative legal regulation. Moreover, a significant difference in the approaches of these countries is the active role of the US states in the development of regional legal regulation on these issues. Despite the fact that Russia is a federal state, the subjects of the Russian Federation are significantly limited in the genomic research legal regulation possibilities. This is largely due to both legal and political reasons that were given in this article. In the United States, a number of statutes have been adopted at the state level that regulate genomic research in such aspects as health insurance, confidential of personal information, the prohibition of discrimination, screening of newborns, and certain types of clinical and scientific research. It should be noted that the genomic research regulation in the United States is not integrated into a single national consolidated act, which is a feature of this legal system. A comparative legal study of the fundamentals of legal regulation and self-regulation of genomic research in Russia and the USA made it possible to understand the specifics of regulation of these issues in different legal systems. The positive regulatory experience in conducting genomic research in the United States can be used to improve the regulatory framework of the Russian Federation in this area.

Realisation of the value and the commercialisation potential of data is gaining exponential momentum. The combination of historical data exploitations and the use of technologies that allow for the triangulation of data results in the collection, storage, and processing of massive amounts of data require diligent data management, including adherence to privacy and other laws, both nationally and internationally. The intrinsic value of scientific data, especially in genomics, becomes apparent when data are shared, often in collaboration with international partners, and compiled into big data sets that are subsequently used for benefit, including commercial benefit. The purpose of this article is to explore the commercialisation of data in South Africa against the backdrop of the legal framework governing the protection of personal information, confidentiality and privacy, with a specific focus on genetic and genomic information. Related issues, such as the collection and sharing of data, ownership of data and challenges about informed consent are also considered. After a brief evaluation of the African regulatory landscape relating to the protection of personal information, the article concludes with a few recommendations aimed at improving the status quo and sensitising the South African public as to the value of their data and personal information, as well as the potential uses and abuses to which their personal information may be subjected

The Africa Ethics Working Group (AEWG) is a South-South-North collaboration of bioethics and mental health researchers from sub-Saharan Africa, working to tackle emerging ethical challenges in global mental health research. Initially formed to provide ethical guidance for a neuro-psychiatric genomics research project, AEWG has evolved to address cross cutting ethical issues in mental health research aimed at addressing equity in North-South collaborations. Global South refers to economically developing countries (sub-Saharan Africa in this context) and Global North to economically developed countries (primarily Europe, UK and North America). In this letter we discuss lessons that as a group we have learnt over the last three years; lessons that similar collaborations could draw on. With increasing expertise from Global South as an outcome of several capacity strengthening initiatives, it is expected that the nature of scientific collaborations will shift to a truly equitable partnership. The AEWG provides a model to rethink contributions that each partner could make in these collaborations.