Public Understanding of Big data in Genomics Medicine in Africa (PUBGEM-Africa)

非洲基因组医学大数据的公众理解 (PUBGEM-Africa)

• 批准号: 10684877
• 负责人: Nchangwi Syntia Munung
• 金额: $ 35.47万
• 依托单位: UNIVERSITY OF CAPE TOWN
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-20 至 2026-07-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10684877
• 关键词: Address; Adult; Africa; African; African ancestry; Attitude; Award; Benign; Big Data; Bioethics; Biotechnology; Cameroon; Cardiomyopathies; Clinical Data; Code; Collaborations; Complex; Computational Science; Consent; Country; Data; Data Coordinating Center; Data Protection; Data Science; Data Scientist; Development; Disease; Ensure; Environment; Equity; Ethical Issues; Ethics; Family; Feedback; Foundations; Fragile X Syndrome; Funding; Genes; Genetic; Genetic Diseases; Genetic Enhancement; Genetic Medicine; Genetic Variation; Genome; Genomic medicine; Genomics; Genotype; Ghana; Grant; Guidelines; Hand; Health; Health Sciences; Healthcare; Individual; Informed Consent; Institution; Intellectual Property; International; Knowledge; Learning; Legal patent; Link; Literature; Medical; Medical Ethics; Mendelian disorder; Mentorship; Methods; Modeling; Non-Insulin-Dependent Diabetes Mellitus; Ownership; Participant; Patients; Perception; Persons; Phenotype; Population; Positioning Attribute; Privacy; Process; Provider; Public Health Informatics; Readiness; Research; Research Ethics; Research Ethics Committees; Research Project Grants; Risk; Role; Sample Size; Schizophrenia; Sickle Cell Anemia; Site; South Africa; System; Training; Translating; Universities; Variant; Vulnerable Populations; clinical care; commercialization; data privacy; design; ethical, legal, and social implication; exome sequencing; experience; genetic variant; genome wide association study; genomic data; genomic variation; health data; hearing impairment; hereditary hearing loss; improved; innovation; interest; legal implication; novel; population health; programs; public database; sickling; social implication; trait

Project Summary With rapid advanced in genomics, computational sciences, and health informatics, the next decade will likely experience a rapid interest in big data use to inform genomics medicine. This is likely to raise the enthusiasm of patients, big data scientists and proponents of genomics medicine. On the hand, the use of big data for healthcare in general raises ethical legal and social issues (ELSIs) relating to the feedback of individual genetic results, the use of research participant data to inform clinical care or population health, risk of privacy breaches and a possible big data global divide. Much can be learned from the growing literature on ELSI of genomics research in Africa, to anticipate and possibly address some of the ethical issues linked to big data in genomics medicine. Given the dearth of empirical and normative ELSI analysis on big data in health in Africa, This UO1 application therefore seeks to develop an ELSI research project that will explore Public Understanding of Big data in Genomics Medicine in Africa (PUBGEM-Africa). In PUBGEM-Africa, we specifically aim to: 1) to investigate models of public engagement and preparedness for big data use in health; 2) to explore the roles and responsibilities of different stakeholder groups (data providers, data producers, data users, funders, and research ethics committees) regarding intellectual property, patents, and commercial use of genomics big data in health; 3) to investigate public perceptions of big data in health and attitude towards governance of data; 4) to develop data governance frameworks for big data-driven innovation and health in Africa. PUBGEM-Africa will directly explore these different questions with populations living with different genetic conditions namely sickle cell disease (high burden in Africa); non-inheritable hearing impairment (a vulnerable population) and Fragile X syndrome (a rare genetic condition). This will allow us to show case, first-hand, attitudes and perceptions to big data use by populations with a genetic condition and to also design systems for addressing the different ELSIs. PUBGEM-Africa will also the foundation for establishing a competitive centre of excellence in the ethics of data science for genomics medicine and emerging biotechnologies in Africa. Our team’s prior experience in implementing various H3Africa ELSI and genomic projects in Africa; the outstanding institutional environment at the University of Cape Town; long term collaboration with institutions in Ghana and Cameroon; and an established collaboration with patient groups (for hearing impairment, sickle cell disease, and Fragile X syndrome),puts us in a good position to effectively implement an ELSI study on big data in genomics medicine in Africa, but to also ensure long-term sustainability of ELSI activities on data science and health innovation in Africa.

项目摘要 随着基因组学，计算科学和健康信息的快速提高，接下来的十年很可能 对大数据使用的迅速兴趣，以告知基因组医学。这可能会提高热情 患者，大数据科学家和基因组医学的组成部分。在手上，大数据用于 一般而言，医疗保健提出了与个人反馈有关的道德法律和社会问题（ELSI） 遗传结果，使用研究参与者数据为临床护理或人口健康，隐私风险提供信息 漏洞和可能的大数据全球鸿沟。从不断增长的有关Elsi的文献中可以学到很多 非洲的基因组学研究，以预期和可能解决与大数据有关的一些道德问题 基因组医学。鉴于经验和正常的ELSI分析对健康的大数据的死亡 因此，非洲的UO1应用程序旨在开发一个ELSI研究项目，该项目将探索公众 了解非洲基因组医学中的大数据（Pubgem-Africa）。在Pubgem-Africa中，我们 特别是针对以下目的：1）调查公众参与模型和对健康中大数据使用的准备模型； 2）探索不同利益相关者群体的角色和责任（数据提供商，数据生产者， 数据使用者，资金和研究伦理委员会）有关知识产权，专利和 基因组学大数据在健康中的商业用途； 3）调查公众对健康中的大数据的看法 对数据治理的态度； 4）开发大数据驱动的数据治理框架 非洲的创新与健康。 Pubgem-Africa将直接与人群一起探索这些不同的问题 患有不同遗传状况的生活，即镰状细胞疾病（非洲高燃烧）；无关 听力障碍（脆弱的人群）和脆弱的X综合征（一种罕见的遗传状况）。这会 允许我们第一手出现案件，并参与和观念，对人群的大数据使用和遗传 条件和设计用于解决不同ELSI的系统。 Pubgem-Africa也将 建立基因组数据科学伦理卓越卓越竞争中心的基础 非洲的医学和新兴生物技术。我们团队在实施各种方面的先前经验 非洲的H3africa Elsi和基因组项目；大学的杰出机构环境 开普敦；与加纳和喀麦隆的机构的长期合作；和一个建立 与患者组合作（用于听力障碍，镰状细胞病和脆弱的X综合征）， 我们处于有效地实施非洲基因组医学大数据的ELSI研究的良好位置， 但是，还要确保非洲数据科学和健康创新活动的ELSI活动的长期可持续性。

项目成果

The African Society of Human Genetics successfully launches global data science workshops.

非洲人类遗传学学会成功举办了全球数据科学研讨会。

• DOI: 10.1016/j.tig.2023.06.004
• 发表时间: 2023
• 期刊: Trends in genetics : TIG
• 作者: Nembaware,Victoria;Bennett,Declan;Chimusa,EmileR;Chikowore,Tinashe;Daodu,Richard;Bitoungui,ValentialNgo;Williams,ScottM;Fatumo,Segun;Healy,Sandra;Seoighe,Cathal;Wonkam,Ambroise;AfricanSocietyofHumanGenetics
• 通讯作者: AfricanSocietyofHumanGenetics