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，下一个十年可能会 体验到对大数据的快速兴趣，以告知基因组医学。这很可能会提高 患者、大数据科学家和基因组医学的支持者。一方面，利用大数据， 一般的医疗保健提出了与个人的反馈有关的伦理法律的和社会问题（ELSI 遗传结果，使用研究参与者数据告知临床护理或人群健康，隐私风险 漏洞和可能的大数据全球鸿沟。从不断增加的关于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相关的一些伦理问题 基因组学医学。鉴于缺乏对健康大数据的经验和规范ELSI分析， 因此，UO1申请旨在开发一个ELSI研究项目， 了解非洲基因组医学大数据（PUBGEM-Africa）在PUBGEM非洲，我们 具体目标是：1）调查公众参与和准备在卫生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， 数据使用者、资助者和研究伦理委员会），涉及知识产权、专利和 基因组学大数据在健康领域的商业用途; 3）调查公众对健康领域大数据的看法， 对数据治理的态度; 4）制定大数据驱动的数据治理框架 创新和健康。PUBGEM-非洲将直接与人口探讨这些不同的问题 生活在不同的遗传条件下，即镰状细胞病（非洲的高负担）;不可遗传 听力障碍（脆弱人群）和脆性X综合征（一种罕见的遗传疾病）。这将 让我们展示案例，第一手资料，态度和看法，大数据使用的人口与遗传 条件，并设计解决不同ELSI的系统。PUBGEM非洲也将 建立基因组学数据科学伦理学竞争力卓越中心基金会 医药和新兴生物技术在非洲。我们的团队在实施各种 H3Africa ELSI和非洲的基因组项目; 开普敦;与加纳和喀麦隆的机构长期合作;以及 与患者团体（听力障碍、镰状细胞病和脆性X综合征）合作， 我们处于有利地位，可以有效地实施ELSI关于非洲基因组医学大数据的研究， 同时确保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.