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.

Project Narrative Greater availability of ancestral Africans’ genomes will improve our understanding of genomic variations both for complex disease conditions and monogenic diseases; improve disease-gene pairs’ curation; and avoid misclassifications of benign variants as disease-causing. However, there are concerns that the scientific imperative associated to increasing the proportion of African genomic variations in public databases will not necessarily translate into enhancing genetic medicine implementation in Africa and that the use of big data for health and innovation, while promising, raises ethical, legal and social issues (ELSI) around, respecting the views of individual data providers, the control of health information, inadvertent uses of data; ownership of intellectual property and patents; the potential of a big data divide, possibilities of various stakeholders to feel exploited. With a focus on big data in genomics medicine, Public Understanding of Big data in Genomics Medicine in Africa (PUBGEM-Africa) aims to use empirical methods to address some of these pertinent ELSI issues particularly as it relates to models of public engagement in big data use for healthcare and innovation; identifying the equity-oriented roles and responsibilities of stakeholders involved in big data use for genomics person; understanding public attitude to and perceptions towards big data in genomics medicine and the governance of big data; the development of equity-oriented governance frameworks for big data use in genomics medicine; and the setting-up of an an ELSI core that will host an ELSI help desk for data science in health in Africa and provide small grants and mentorship support to emerging data science bioethics scholars in Africa.