Individual Findings in Genetic Research in Africa (IFGeneRA)

非洲基因研究的个体发现 (IFGeneRA)

• 批准号: 10198972
• 负责人: Jantina De Vries
• 金额: $ 47.49万
• 依托单位: UNIVERSITY OF CAPE TOWN
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-20 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10198972
• 关键词: AIDS/HIV problem; Adult; Affect; Africa; African; Anthropology; Attention; Back; Belief; Bioethics; Bioinformatics; Bipolar Disorder; Botswana; Cameroon; Child; Childhood; Communities; Consult; Country; Data Set; Development; Disease; Drama; Enrollment; Ethical Analysis; Ethics; Ethnography; Family; Feedback; Focus Groups; Fragile X Syndrome; Frequencies; Genetic; Genetic Counseling; Genetic Diseases; Genetic Research; Genomics; HIV; Income; Individual; Interview; Knowledge; Learning; Literature; Medical Genetics; Mental Retardation; Methodology; Methods; Modernization; Murder; Nature; Outcome Study; Parents; Participant; Pathogenicity; Patients; Policies; Policy Developments; Prospective Studies; Psychotic Disorders; Publications; Regulation; Reporting; Research; Research Personnel; Research Project Grants; Resources; Rural; Schizophrenia; Social Sciences; South Africa; Surveys; Testing; Variant; Work; autism spectrum disorder; base; cohort; community engagement; cost; development policy; ethical legal social implication; evidence base; expectation; experience; feeding; genetic disorder diagnosis; health economics; insight; low and middle-income countries; man; meetings; member; preference; rural setting; urban setting; virtual; working group

Project Summary - IFGeneRA OVERALL Component The Individual Findings in Genetics Research in Africa (IFGeneRA) H3Africa ELSI Collaborative Centre aims to progressively build an evidence base that forms the basis for context- and country specific development of policies relating to the return of individual genetic research results for African genomic research, and to act as an ethics resource for the H3Africa Consortium. We will a) collect empirical evidence from a wide range of stakeholders in both rural and urban settings in three African countries, b) combine methodologies from genetic counselling, social science, anthropology, bioinformatics, health economics and normative ethical analysis to progressively develop this evidence base, and c) test the wider acceptability and applicability of findings we generate in a continental survey that will be administered to relevant stakeholders throughout Africa. In Project 1, we will retrospectively investigate the effect of a genetic diagnosis on the lives of families affected by Fragile X in rural Cameroon. In that project, we will also explore the relation between traditional and modern genetic knowledge, and develop a video documentary about our study as part of our community engagement activities. In Project 2, we will conduct a prospective study to explore the expectations and preferences for feedback of individual genetic research findings in a cohort of healthy controls and patients involved in genomics research in Gaborone, Botswana and Cape Town, South Africa. The study involves (parents or guardians of) children and adults enrolled in genomics research projects focusing on HIV/AIDS, neurodevelopmental conditions and psychotic disorders. In that project, we will also conduct in-depth interviews with people involved in developing, implementing and applying ethical standards and policies for return of individual study results in genomics research in Botswana and South Africa. We will use drama as a means to discuss ethical aspects of our work with community members involved in our research. In Project 3, we will focus on exploring practical and normative considerations relating to decisions to feedback findings in African Genomics Research. Step 1 will combine methods from medical genetics, bioinformatics and health economics to generate practical insight into the scope of the feedback of findings discussion in Africa. In Step 2 we will conduct a normative ethical analysis of ethics literature describing obligations to (not) feedback individual genetic findings for researchers based in low- and middle income African countries. In Step 3 we will draw on the findings from all stages of the three projects to develop an online continental survey exploring wider approaches to practical and ethical considerations relating to the feedback of individual genetic research results.

项目总结- IFGeneRA总体组件 非洲遗传学研究的个别发现（IFGeneRA）H3 Africa ELSI合作中心的目标 逐步建立一个证据基础，作为根据具体情况和国家制定 关于将个人基因研究成果归还非洲基因组研究的政策，并作为 H3非洲联盟的道德资源。我们将a）从广泛的领域收集经验证据， B）联合收割机采用的方法 遗传咨询、社会科学、人类学、生物信息学、卫生经济学和规范伦理学 分析，以逐步发展这一证据基础，和c）测试更广泛的可接受性和适用性， 我们在一项大陆调查中得出的结果将在整个非洲范围内向相关利益攸关方提供， 非洲在项目1中，我们将回顾性地调查基因诊断对家庭生活的影响。 在喀麦隆农村受到脆弱X病毒的影响。在该项目中，我们还将探讨传统与 现代遗传知识，并开发一个关于我们的研究作为我们社区的一部分的视频纪录片 参与活动。在项目2中，我们将进行一项前瞻性研究，以探讨期望， 对健康对照组和患者队列中个体遗传研究结果反馈的偏好 在博茨瓦纳哈博罗内和南非开普敦参与基因组学研究。研究涉及 参加以艾滋病毒/艾滋病为重点的基因组学研究项目的儿童和成年人（的父母或监护人）， 神经发育状况和精神障碍。在该项目中，我们还将深入开展 采访参与制定、实施和应用道德标准和政策的人员， 博茨瓦纳和南非基因组学研究的个人研究结果的回报。我们将把戏剧作为 意味着与参与我们研究的社区成员讨论我们工作的道德方面。在项目3中， 我们将重点探索与反馈调查结果的决策相关的实践和规范考虑因素， 非洲基因组学研究。第一步将结合医学遗传学、生物信息学和健康的联合收割机方法 经济学，以产生实际的洞察力的范围内的反馈意见的讨论在非洲。在步骤 我们将对描述反馈义务的伦理文献进行规范的伦理分析 为中低收入非洲国家的研究人员提供个人遗传学研究结果。在步骤3中，我们将 利用这三个项目所有阶段的调查结果， 更广泛地处理与个人遗传研究反馈有关的实际和伦理考虑 结果

项目成果

Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.

• DOI: 10.3389/fpubh.2021.697381
• 发表时间: 2021
• 期刊: Frontiers in public health
• 影响因子: 5.2
• 作者: Fontes Marx M;Ataguba JE;de Vries J;Wonkam A
• 通讯作者: Wonkam A

Participants' Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana.

• DOI: 10.1177/15562646211043985
• 发表时间: 2021-12
• 期刊: Journal of empirical research on human research ethics : JERHRE
• 作者: Ralefala D;Kasule M;Matshabane OP;Wonkam A;Matshaba M;de Vries J
• 通讯作者: de Vries J

Should Feedback of Individual Results be Integrated into the Consent Process in African Genomics? Participants' Views from an HIV-TB Genomics Research Project in Botswana.

个体结果的反馈是否应该纳入非洲基因组学的同意过程中？

• DOI: 10.1080/23294515.2021.1941414
• 发表时间: 2022
• 期刊: AJOB empirical bioethics
• 作者: Ralefala,Dimpho;Kasule,Mary;Wonkam,Ambroise;Matshaba,Mogomotsi;deVries,Jantina
• 通讯作者: deVries,Jantina

Feeding back of individual genetic results in Botswana: mapping opportunities and challenges.

• DOI: 10.1186/s12910-023-00912-1
• 发表时间: 2023-06-03
• 期刊: BMC MEDICAL ETHICS
• 影响因子: 2.7
• 作者: Kasule, Mary;Matshaba, Mogomotsi;Wonkam, Ambroise;de Vries, Jantina
• 通讯作者: de Vries, Jantina

Epistemic justice, African values and feedback of findings in African genomics research.

• DOI: 10.1080/11287462.2022.2124019
• 发表时间: 2022
• 期刊: Global bioethics = Problemi di bioetica
• 作者: Ewuoso, Cornelius;Wonkam, Ambroise;de Vries, Jantina
• 通讯作者: de Vries, Jantina