Laboratorio de Ciencia de Datos Biomédicos, Escuela de Medicina, Facultad de Ciencias Médicas de la Salud y de la Vida, Universidad Internacional del Ecuador, Quito, Ecuador.
Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), Santiago, Chile.
JCO Precis Oncol. 2024 Apr;8:e2300398. doi: 10.1200/PO.23.00398.
Ethnic diversity in cancer research is crucial as race/ethnicity influences cancer incidence, survival, drug response, molecular pathways, and epigenetic phenomena. In 2018, we began a project to examine racial/ethnic diversity in cancer research, with a commitment to review these disparities every 4 years. This report is our second assessment, detailing the present state of racial/ethnic diversity in cancer genomics and clinical trials.
To study racial/ethnic inclusion in cancer genomics, we extracted ethnic records from all data sets available at cBioPortal (n = 125,128 patients) and cancer-related genome-wide association studies (n = 28,011,282 patients) between 2018 and 2022. Concerning clinical trials, we selected studies related to breast cancer (n = 125,518 patients, 181 studies), lung cancer (n = 34,329 patients, 119 studies), and colorectal cancer (n = 40,808 patients, 105 studies).
In cancer genomics (N = 28,136,410), 3% of individuals lack racial/ethnic registries; tumor samples were collected predominantly from White patients (89.14%), followed by Asian (7%), African American (0.55%), and Hispanic (0.21%) patients and other populations (0.1%). In clinical trials (N = 200,655), data on race/ethnicity are missing for 60.14% of the participants; for individuals whose race/ethnicity was recorded, most were characterized as White (28.33%), followed by Asian (7.64%), African (1.79), other ethnicities (1.37), and Hispanic (0.73). Racial/ethnic representation significantly deviates from global ethnic proportions ( ≤ .001) across all data sets, with White patients outnumbering other ethnic groups by a factor of approximately 4-6.
Our second update on racial/ethnic representation in cancer research highlights the persistent overrepresentation of White populations in cancer genomics and a notable absence of racial/ethnic information across clinical trials. To ensure more equitable and effective precision oncology, future efforts should address the reasons behind the insufficient representation of ethnically diverse populations in cancer research.
癌症研究中的族裔多样性至关重要，因为种族/族裔会影响癌症的发病率、存活率、药物反应、分子途径和表观遗传现象。2018 年，我们启动了一个项目，以研究癌症研究中的种族/族裔多样性，并承诺每四年审查一次这些差异。本报告是我们的第二次评估，详细介绍了癌症基因组学和临床试验中种族/族裔多样性的现状。
为了研究癌症基因组学中的种族/族裔包容性，我们从 2018 年至 2022 年期间的 cBioPortal（n = 125,128 名患者）和癌症相关全基因组关联研究（n = 28,011,282 名患者）中提取了所有数据集中的种族记录。关于临床试验，我们选择了与乳腺癌（n = 125,518 名患者，181 项研究）、肺癌（n = 34,329 名患者，119 项研究）和结直肠癌（n = 40,808 名患者，105 项研究）相关的研究。
在癌症基因组学（n = 28,136,410）中，有 3%的个体缺乏种族/族裔登记；肿瘤样本主要来自白人患者（89.14%），其次是亚洲人（7%）、非裔美国人（0.55%）和西班牙裔（0.21%）以及其他人群（0.1%）。在临床试验中（n = 200,655），60.14%的参与者的数据缺失；对于记录了种族/族裔的个体，大多数被归类为白人（28.33%），其次是亚洲人（7.64%）、非洲人（1.79%）、其他族裔（1.37%）和西班牙裔（0.73%）。所有数据集中，种族/族裔的代表性明显偏离全球族裔比例（≤0.001），白人患者的数量是其他族裔的 4-6 倍。
我们对癌症研究中种族/族裔代表性的第二次更新强调了在癌症基因组学中白人人群的过度代表，以及临床试验中明显缺乏种族/族裔信息。为了确保更公平和有效的精准肿瘤学，未来的努力应解决在癌症研究中少数族裔代表性不足的原因。
