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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.

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]

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]

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]

Personalized medicine integrates genomics with clinical and familial histories, revolutionizing healthcare by tailoring treatments to individual patient characteristics. At its core, pharmacogenomics enables the customization of medication prescriptions based on genetic profiles, enhancing drug efficacy and safety. This precision medicine approach addresses disease diagnosis, prevention, and treatment, offering targeted therapies for conditions like autoimmune disorders, rheumatoid arthritis, and neoplastic conditions. Examples of pharmacogenomics and personalized medicine include treatment for certain conditions like blood clotting disorders (warfarin (blood thinner), genetic variability, acute lymphoblastic leukemia (ALL), and thiopurine methyltransferase (TPMT) testing) in leukemia treatment. Historically, personalized medicine has evolved from Hippocrates' humoral theories to modern molecular diagnostics. The shift from cellular to molecular-level investigations has led to the current post-genomic era, emphasizing the four chemical components of DNA in understanding and treating disorders. This evolution enhances our ability to predict disease susceptibility, treatment response, and potential adverse reactions, demanding advancements in privacy laws, payment systems, regulatory standards, and education. Personalized healthcare optimizes treatment by considering genetic, environmental, and lifestyle factors, reducing adverse reactions, and improving patient satisfaction. It drives genomic and biotechnological research, fostering the development of targeted therapies and diagnostic tools, and streamlining drug development. Applications in lung cancer, renal carcinoma, and rheumatoid arthritis (RA) illustrate the efficacy of personalized medicine. Targeted therapies, such as tyrosine kinase inhibitors (TKIs) and monoclonal antibodies (mAbs), show significant success in lung cancer. Biomarkers guide renal carcinoma treatments, while gene expression profiles predict rheumatoid arthritis outcomes with tumor necrosis factor-alpha ( TNF-α) blockers. The US FDA's increasing approvals of personalized treatments underscore its commitment to precision medicine. However, regulatory challenges persist, necessitating clear processes and policies. Ethical considerations, including equitable access and privacy, are critical for responsible implementation. The FDA's increasing approvals of personalized treatments highlight its commitment to advancing precision medicine, yet regulatory challenges remain, requiring the development of clear processes and policies to manage innovation safely. While these hurdles are being addressed through evolving guidelines and collaborative efforts, ethical considerations, including equitable access and privacy, are critical for responsible implementation. Early examples, such as warfarin and imatinib, demonstrate the role of genetic information in guiding treatment, illustrating the potential of personalized medicine to optimize healthcare outcomes., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, S et al.)

JH and ecdysone signaling regulate insect metamorphosis through the master transcription factors, Krüppel homolog 1 (kr-h1), Broad-Complex (BR-C), and E93. Ecdysone signaling activates successively expressed ecdysone responsive transcription factors (ERTFs), and the interaction between ERTFs determines the expression profiles of ERTFs themselves. Through the construction of expressed sequence tag (EST) database of Bombyx mori from many tissues, the existence of a large number of cuticular protein (CP) genes was identified in wing disc cDNA library of the 3 days after the start of wandering (W3). From the genomic analysis, 12 types of CP clusters of CP genes were identified. DNA sequences of CP genes revealed the duplication of CP genes, which suggests to reflect the insect evolution. These CP genes responded to ecdysone and ecdysone pulse; therefore, CP genes were applied for the analysis of transcriptional regulation by ERTF. The binding sites of ERTF have been reported to exist upstream of CP genes in several insects, and the activation of CP genes occurred by the binding of ERTFs. Through the analysis, the following were speculated; the successive appearance of ERTFs and the activation of target genes resulted in the successively produced CPs and cuticular layer. The sequence of the ERTF and CP gene expression was the same at larval to pupal and pupal to adult transformation. The involvement of several ERTFs in one CP gene expression was also clarified; BmorCPG12 belongs to group showing expression peak at W3 and was regulated by two ERTFs; BHR3 and ßFTZ-F1, BmorCPH2 belongs to group showing expression peak at P0 and was regulated by two ERTFs; ßFTZ-F1 and E74A. The involvement of BHR39 as a negative regulator of CP gene expression was found. Larval, pupal, and adult cuticular layers were supposed to be constructed by the combination of different and similar types of CPs, through the expressed timing of CP genes., (© 2024 Wiley Periodicals LLC.)

Background: The recent expansion of genomic biobank research in the Arab region in the Middle East North Africa has raised complex ethical and regulatory issues. However, there is a lack of studies regarding the views of Arab researchers involved in such research. We aimed to assess the perceptions and attitudes of Arab researchers regarding these issues in biobank research. Methods: We developed a questionnaire to assess the perceptions and attitudes regarding genetic research of researchers from Egypt, Sudan, Morocco, and Jordan. The questionnaire requested demographic data, perceptions, and attitudes regarding the collection, storage, and use of biospecimens and data, the use of broad consent, data security, data sharing, and community engagement. We used multiple linear regressions to identify predictors of perceptions and attitudes. Results: We recruited 383 researchers. Researchers favored equally the use of broad and tiered consent (44.1% and 39.1%, respectively). Most respondents agreed with the importance of confidentiality protections to ensure data security (91.8%). However, lower percentages were seen regarding the importance of community engagement (64.5%), data sharing with national colleagues and international partners (60.9% and 41.1%, respectively), and biospecimen sharing with national colleagues and international partners (59.9% and 36.2%, respectively). Investigators were evenly split on whether the return of individual research results should depend on the availability or not of a medical intervention that can be offered to address the genetic anomaly (47.5% and 46.4%, respectively). Predictors of attitudes toward biospecimen research included serving on Research Ethics Committees, prior research ethics training, and affiliation with nonacademic institutions. Conclusions: We recommend further exploratory research with researchers regarding the importance of community engagement and to address their concerns about data sharing, with researchers within and outside their countries.

Since 2016, the National Human Genome Research Institute of the US NIH has convened a meeting for their trainees. Training programs supported by the Institute are located throughout the USA and provide funding to trainees from the undergraduate to the postdoctoral and junior faculty levels. The annual training meeting provides trainees with a novel opportunity to network, learn about a wide range of genomic research and gain skills and information to support their educational and career path in genomic research. The pandemic forced a transition to virtual meetings in 2020 and 2021, but the 2022 meeting was convened as a hybrid format, with 383 attendees (59% in-person) in Durham, NC, USA. [ABSTRACT FROM AUTHOR]

Background: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease., Objective: We aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children's Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children's Rare Disease Cohort (CRDC) research initiative participants., Design and Methods: Race and ethnicity data were collected from the EHRs of the general BCH, clinical sequencing, and CRDC cohorts. We constructed a single comprehensive set of race and ethnicity categories. EHR-based race and ethnicity variables were mapped within each cohort to the revised categories. Then, the numbers of patients within each revised race and ethnicity category were compared across cohorts., Results: There was a significantly lower percentage of Black or African American/African, non-Hispanic/non-Latine individuals in the CRDC cohort compared with the general BCH cohort, but there was no statistically significant difference between the CRDC and the clinical sequencing cohorts. There was a significantly lower percentage of multi-racial, Hispanic/Latine individuals in the CRDC cohort than the clinical sequencing cohort. White, non-Hispanic/non-Latine individuals were over-represented in the CRDC compared to the two other groups., Conclusion: We highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community., Competing Interests: The authors declare that there is no conflict of interest., (© The Author(s), 2023.)

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 biogenomic studies in Africa., Methods: We conducted a narrative synthesis following a comprehensive search of nine (9) databases and grey literature. Ethical issues studied 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., 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). More education of study participants is needed, as well as appropriate community engagement processes that allow community confidence in enrolment into such studies. Competence of review and ethics committees (RECs) should be enhanced to adequately review and govern biobanking and genomic research in Africa. 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: With these varying ethical considerations, we recommend that stakeholders, including research ethics committees, 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., Competing Interests: Competing interests The authors declare they have no competing interests with respect to this manuscript.