Munung Nchangwi Syntia
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Curr Genet Med Rep. 2025;13(1):1. doi: 10.1007/s40142-024-00211-0. Epub 2025 Feb 24.
Recent advances in genetics are pushing the frontiers of health research in Africa. Notable developments include the release of the draft human pangenome reference, regulatory approval of gene editing therapies for sickle cell disease, and the announcements of major initiatives such as the Ghana Genome Project, the Personalized Medicine in North Africa Initiative, Nigeria's 100K Genome Project and South Africa's 110K Human Genomes Project. Additionally, gene-based therapies for HIV are on the horizon, with clinical trials planned in some African countries. Despite this progress, a pressing challenge remains: ensuring equitable access and delivery of genomics medicine worldwide, particularly in Africa and other low and middle income regions.
Science diplomacy and academic-industry partnerships are key to achieving "Genomics for All." This requires collaboration between African governments, academic institutions, funding agencies, commercial biotechnology companies, civil society, and international health organizations. Together, these stakeholders must define and establish a sustainable framework to support genetic research in Africa, increase the availability of genetic data from African populations, and set-up translational genomics medicine initiatives tailored to the continent's unique healthcare needs. Science advocacy and diplomacy is also needed to establish mechanisms that prevent the hoarding of genetic resources, including genetic data and novel interventions, and guarantee equitable access to the scientific, medical and economic benefits of genomics for all nations. Achieving this vision may necessitate international treaties to promote equitable access to genomic innovations, responsible and ethical cross-border data sharing, and long-term strategies to address funding gaps in genomic research and its application in medicine and healthcare in Africa.
遗传学的最新进展正在推动非洲健康研究的前沿。显著进展包括人类泛基因组参考草图的发布、镰状细胞病基因编辑疗法的监管批准，以及加纳基因组计划、北非个性化医疗倡议、尼日利亚10万基因组计划和南非11万人类基因组计划等重大举措的宣布。此外，针对艾滋病病毒的基因疗法即将出现，一些非洲国家正在计划开展临床试验。尽管取得了这些进展，但一个紧迫的挑战仍然存在：确保在全球范围内，特别是在非洲以及其他低收入和中等收入地区，公平获取和提供基因组医学。
科学外交和学术 - 产业伙伴关系是实现“全民基因组学”的关键。这需要非洲各国政府、学术机构、资助机构、商业生物技术公司、民间社会和国际卫生组织之间的合作。这些利益相关者必须共同定义并建立一个可持续的框架，以支持非洲的基因研究，增加来自非洲人群的基因数据的可用性，并设立针对非洲大陆独特医疗需求的转化基因组医学倡议。还需要科学宣传和外交来建立机制，防止囤积遗传资源，包括遗传数据和新型干预措施，并确保所有国家公平获取基因组学的科学、医学和经济效益。实现这一愿景可能需要国际条约来促进公平获取基因组创新成果、负责任和符合伦理的跨境数据共享，以及解决非洲基因组研究及其在医学和医疗保健应用中的资金缺口的长期战略。
