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

项目摘要 随着基因组学、计算科学和健康信息学的快速发展，下一个十年很可能 体验对大数据用于为基因组学医学提供信息的快速兴趣。这可能会提高人们的热情。 患者、大数据科学家和基因组医学的支持者。另一方面，大数据的使用 医疗保健通常会引发与个人反馈相关的伦理、法律和社会问题(ELIS) 遗传结果，研究参与者数据的使用，以告知临床护理或人群健康，隐私风险 入侵事件和可能的大数据全球鸿沟。从不断增长的关于ELSI的文献中可以学到很多东西 非洲的基因组学研究，以预测并可能解决与大数据有关的一些伦理问题 在基因组学医学方面。由于缺乏对健康大数据的经验性和规范性ELSI分析 因此，该UO1申请寻求开发一个ELSI研究项目，该项目将探索公共 了解非洲基因组医学中的大数据(PUBGEM-Africa)。在PUBGEM非洲，我们 具体目标是：1)调查公众参与和准备在健康领域使用大数据的模式； 2)探讨不同利益攸关方群体(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)调查公众对健康和健康领域大数据的看法 对数据治理的态度；4)为大数据驱动开发数据治理框架 非洲的创新和健康。PUBGEM-非洲将直接与民众探讨这些不同的问题 患有不同的遗传疾病，即镰状细胞病(在非洲负担很重)；不可遗传 听力障碍(弱势群体)和脆性X综合征(一种罕见的遗传疾病)。这将是 允许我们展示案例，第一手，对拥有基因的人群使用大数据的态度和看法 并为解决不同的ELIS问题设计系统。PUBGEM-非洲也将 建立基因组学数据科学伦理方面具有竞争力的卓越中心的基础 非洲的医药和新兴生物技术。我们团队在实施各种 H3非洲ELSI和非洲的基因组项目；非洲大学杰出的机构环境 开普敦；与加纳和喀麦隆机构的长期合作；以及建立 与患者群体(听力障碍、镰状细胞疾病和脆性X综合征)的合作， 美国处于有利地位，可以有效地在非洲实施关于基因组医学大数据的ELSI研究， 但也是为了确保ELSI在非洲数据科学和卫生创新方面的活动的长期可持续性。

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.