医学正朝着这样一个未来迈进：一个人的DNA可以帮助预测疾病风险、指导个性化治疗，并为遗传性疾病的治疗提供依据。但随着精准医学和基因疗法越来越主流，这些进步背后的科学存在一个重大缺口：它们并非对所有人都同样有效。
Medicine is moving toward a future in which a person’s DNA can help to predict disease risk, guide personalized treatment and inform therapies for genetic disorders. But as precision medicine and genetic therapies become more mainstream, the science behind these advances has a major gap: they do not work equally well for everyone.
尽管非洲在人类起源中占据核心地位，且拥有非凡的遗传多样性，但非洲裔人群在用于理解疾病、评估健康风险和开发治疗方法的基因组数据集中仍然代表性不足。
Despite Africa’s central place in human origins and its extraordinary genetic diversity, people of African ancestry remain underrepresented in the genomic datasets used to understand disease, estimate health risks, and develop treatments.
弥补这一缺口不仅仅需要收集更多样本。还需要持续投资于非洲科学家、研究机构、生物库和生物信息学能力。我们提议在10年内投入初始1亿美元，建立一个协调的、非洲主导的基因组倡议，由非洲政府、国际资助方和生命科学公司共同承担其成功的责任。
Closing that gap is going to require more than just collecting more samples. It will take sustained investment in African scientists, research institutions, biobanks, and bioinformatics capacity. We propose an initial $100 million investment over 10 years to build a coordinated, African-led genomics initiative, with African governments, international funders and life sciences companies sharing responsibility for its success.
这项投资是值得的。我们已经知道，研究非洲裔人群的遗传变异已帮助揭示了一种造福全球患者的生物学机制。
It will be worth the investment. We already know that studying genetic variation in African ancestry populations has helped reveal a biological mechanism that has benefited patients worldwide.
最近对一种名为PCSK9的蛋白质的研究表明，研究人员可以从研究这种多样性中获得什么。2005年，研究人员在非裔美国参与者中发现了PCSK9的天然变异，该蛋白质在肝脏中产生。这些变异与较低的胆固醇水平相关。后续研究将这些遗传变异与降低冠心病风险联系起来。这些发现有助于确立PCSK9作为药物靶点，并促进了PCSK9抑制剂的开发，这是一种新型降胆固醇药物，如今在全世界使用。
Recent studies of a protein called PCSK9 shows what researchers can gain by studying this diversity. In 2005, researchers identified naturally occurring variants in PCSK9, which is produced in the liver, among African American participants. These variants were associated with lower cholesterol. Follow-up studies linked these genetic variants to reduced coronary heart disease risk. These findings helped establish PCSK9 as a drug target and contributed to the development of PCSK9 inhibitors, a new class of cholesterol-lowering medicines now used around the world.
这个故事很重要，因为它的发现始于人类的遗传变异，而这些变异本可能被忽视。遗传差异可以指向一个生物通路，而该通路可以成为治疗的基础。在基因组研究忽视的人群中，可能还有许多类似的发现等待被发掘。
This story matters because the discovery began with human genetic variation that might otherwise have received less attention. A genetic difference can point to a biological pathway, and that pathway can become the basis for a treatment. There may be many more such discoveries waiting in populations that genomic research has overlooked.
代表性不足的影响已经在遗传风险预测中显现。主要基于欧洲血统数据开发的工具，在应用于遗传背景与原始研究人群不同的人群时，可能准确性较低。随着基因医学进入常规医疗，这些差距可能影响我们估计疾病风险的可靠性或对个人基因检测结果的解释。正如我们之前所建议的，缩小差距需要对非洲大陆的生态系统进行持续投入。
The effects of underrepresentation are already visible in genetic risk prediction. Tools developed mainly with European-ancestry data can be less accurate when applied to people whose genetic backgrounds differ from the original study populations. As genomic medicine enters routine care, these gaps could influence how reliably we estimate disease risk or interpret a person’s genetic results Closing the gap will need sustained investment into the continent’s ecosystem as we’ve already suggested.
样本和数据不应仅仅离开大陆，而专业知识和收益却在其他地方积累。非洲主导的项目需要长期支持，同时社区也应在数据使用方式上拥有实际的发言权，并分享其中的收益。
Samples and data should not simply leave the continent while expertise and benefits accumulate elsewhere. African-led programs will need long-term support while communities must also have a meaningful say in how their data are used and share in the benefits.
我们提出的1亿美元方案是一个起步目标，而非对非洲大陆所需总量的完整估算。非洲政府和非盟可以帮助协调国家层面的承诺和区域合作。国际科研资助机构和慈善组织应提供持续支持。制药和生物技术公司应通过公平合作伙伴关系作出贡献，这些伙伴关系应认识到非洲主导发现的价值。
Our $100 million proposal is a starting ambition, not a full estimate of what the continent will need. African governments and the African Union can help coordinate national commitments and regional collaboration. International research funders and philanthropies should provide sustained support. Pharmaceutical and biotechnology companies should contribute through equitable partnerships that recognize the value of African-led discovery.
这项工作也应加强非洲的卫生系统。研究可以支持当地专业能力和诊断能力，同时帮助识别与非洲卫生优先事项相关的治疗方法。然而，科学进步的影响可能远远超出非洲。最终，当研究更好地反映人类整体时，我们就有更大机会理解疾病并开发出不仅在非洲，而且对更多人有效的药物。
This work should strengthen African health systems, too. Research can support local expertise and diagnostic capacity while helping identify treatments relevant to the continent’s health priorities. The scientific gains, however, could reach far beyond Africa. Ultimately, when research reflects more of humanity, we have a better chance of understanding disease and developing medicines that work for more people beyond Africa.
世界可能正在忽视其下一个重要的医学发现。投资于非洲基因组学是寻找它的一种务实方式。
The world may be overlooking its next important medical discovery. Investing in African genomics is a practical way to look for it.