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)

基本信息

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
项目类别：
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

项目摘要

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.

项目概要随着基因组学、计算科学和健康信息学的快速发展，未来十年可能会对使用大数据为基因组学医学提供信息产生了浓厚的兴趣，这可能会提高人们的热情。另一方面，大数据的用途包括患者、大数据科学家和基因组医学的支持者。一般来说，医疗保健会引发与个人反馈相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来告知临床护理或人口健康、隐私风险从越来越多的有关 ELSI 的文献中可以学到很多东西。非洲的基因组学研究，预测并可能解决与大数据相关的一些伦理问题鉴于缺乏对健康大数据的实证和规范 ELSI 分析。非洲，因此，UO1 申请旨在开发一个 ELSI 研究项目，该项目将探索公共对非洲基因组医学大数据的了解 (PUBGEM-Africa) 在 PUBGEM-Africa 中，我们。具体目标是： 1) 调查健康大数据使用的公众参与和准备模式； 2）探索不同利益相关者群体（数据提供者、数据生产者、数据用户、资助者和研究伦理委员会）有关知识产权、专利和基因组学大数据在健康领域的商业应用；3) 调查公众对健康领域大数据的看法； 4）制定大数据驱动的数据治理框架 PUBGEM-Africa 将直接与民众探讨这些不同的问题。患有不同的遗传病，即镰状细胞病（非洲的高负担）；听力障碍（弱势群体）和脆性 X 综合征（一种罕见的遗传病）。让我们能够展示具有遗传基因的人群对大数据使用的第一手案例、态度和看法条件并设计解决不同 ELSI 的系统。建立基因组学数据科学伦理竞争卓越中心的基础我们团队在非洲实施各种医学和新兴生物技术的经验。 H3Africa ELSI 和非洲基因组项目；非洲大学出色的机构环境开普敦；与加纳和喀麦隆的机构建立了长期合作关系；与患者团体合作（针对听力障碍、镰状细胞病和脆性 X 综合征），我们有能力在非洲有效实施关于基因组医学大数据的 ELSI 研究，还要确保 ELSI 在非洲的数据科学和健康创新活动的长期可持续性。

项目成果

期刊论文数量（1）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

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：
发表时间：
2023-11
期刊：
影响因子：
0
作者：
Nembaware, Victoria;Bennett, Declan;Chimusa, Emile R;Chikowore, Tinashe;Daodu, Richard;Bitoungui, Valential Ngo;Williams, Scott M;Fatumo, Segun;Healy, Sandra;Seoighe, Cathal;Wonkam, Ambroise;African Society of Human Genetics
通讯作者：
African Society of Human Genetics