Department of Anatomic Pathology, Faculty of Medicine, University of Chile, Santiago 8380453, Chile.
Service of Anatomic Pathology, University of Chile Clinical Hospital (HCUCH), Santiago 8380453, Chile.
Genes (Basel). 2024 Oct 22;15(11):1352. doi: 10.3390/genes15111352.
Although a lack of diversity in genetic studies is an acknowledged obstacle for personalized medicine and precision public health, Latin American populations remain particularly understudied despite their heterogeneity and mixed ancestry. This gap extends to COVID-19 despite its variability in susceptibility and clinical course, where ethnic background appears to influence disease severity, with non-Europeans facing higher hospitalization rates. In addition, access to high-quality samples and data is a critical issue for personalized and precision medicine, and it has become clear that the solution lies in biobanks. The creation of the Chilean COVID-19 Biorepository reported here addresses these gaps, representing the first nationwide multicentric Chilean initiative. It operates under rigorous biobanking standards and serves as one of South America's largest COVID cohorts. A centralized harmonization strategy was chosen and included unified standard operating procedures, a sampling coding system, and biobanking staff training. Adults with confirmed SARS-CoV-2 infection provided broad informed consent. Samples were collected to preserve blood, plasma, buffy coat, and DNA. Quality controls included adherence to the standard preanalytical code, incident reporting, and DNA concentration and absorbance ratio 260/280 assessments. Detailed sociodemographic, health, medication, and preexisting condition data were gathered. In five months, 2262 participants were enrolled, pseudonymized, and sorted by disease severity. The average Amerindian ancestry considering all participant was 44.0% [SD 15.5%], and this value increased to 61.2% [SD 19.5%] among those who self-identified as Native South Americans. Notably, 279 participants self-identified with one of 12 ethnic groups. High compliance (>90%) in all assessed quality controls was achieved. Looking ahead, our team founded the COVID-19 Genomics Network (C19-GenoNet) focused on identifying genetic factors influencing SARS-CoV-2 outcomes. In conclusion, this bottom-up collaborative effort aims to promote the integration of Latin American populations into global genetic research and welcomes collaborations supporting this endeavor. Interested parties are invited to explore collaboration opportunities through our catalog, accessible online.
尽管遗传研究中的多样性缺乏是个性化医学和精准公共卫生的公认障碍，但拉丁美洲人群尽管具有异质性和混合血统，但其研究仍然特别不足。这种差距也延伸到了 COVID-19，尽管其易感性和临床过程存在变异性，但种族背景似乎影响疾病的严重程度，非欧洲人面临更高的住院率。此外，获得高质量的样本和数据对于个性化和精准医学是一个关键问题，现在已经很清楚，解决方案在于生物库。这里报告的智利 COVID-19 生物库的创建解决了这些差距，代表了第一个全国性的智利多中心倡议。它按照严格的生物库标准运作，是南美洲最大的 COVID 队列之一。选择了集中的协调策略，包括统一的标准操作程序、采样编码系统和生物库工作人员培训。经证实感染 SARS-CoV-2 的成年人提供了广泛的知情同意。采集样本以保存血液、血浆、白细胞层和 DNA。质量控制包括遵守标准的预分析代码、事件报告以及 DNA 浓度和吸光度比 260/280 的评估。收集了详细的社会人口统计学、健康、药物和既往疾病数据。在五个月内，有 2262 名参与者被纳入、匿名化并根据疾病严重程度进行分类。考虑到所有参与者的平均美洲原住民血统为 44.0%[标准差 15.5%]，而在自我认定为南美原住民的参与者中，这一数值增加到 61.2%[标准差 19.5%]。值得注意的是，有 279 名参与者自我认定属于 12 个民族群体之一。所有评估的质量控制均达到了>90%的高合规性。展望未来，我们的团队成立了 COVID-19 基因组学网络（C19-GenoNet），专注于确定影响 SARS-CoV-2 结果的遗传因素。总之，这项自下而上的合作努力旨在促进拉丁美洲人群融入全球遗传研究，并欢迎支持这一努力的合作。有兴趣的各方可通过我们的在线目录探索合作机会。
