Toward Equitable Precision Oncology: Monitoring Racial and Ethnic Inclusion in Genomics and Clinical Trials

Author:

García-Cárdenas Jennyfer M.12ORCID,Indacochea Alberto3ORCID,Pesantez-Coronel David3ORCID,Terán-Navas Martín1ORCID,Aleaga Ana1ORCID,Armendáriz-Castillo Isaac124ORCID,Peña Zúñiga Lizbeth1ORCID,Morán-Erazo Carla1ORCID,Chávez-Vélez Erik1ORCID,Pérez-Villa Andy12ORCID,López-Cortés Andrés5ORCID,Guerrero Santiago12ORCID

Affiliation:

1. 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

2. Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), Santiago, Chile

3. Department of Medical Oncology, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain

4. Instituto Nacional de Investigación en Salud Pública, Quito, Ecuador

5. Cancer Research Group (CRG), Faculty of Medicine, Universidad de Las Américas, Quito, Ecuador

Abstract

PURPOSE 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. METHODS 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). RESULTS 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 ( P ≤ .001) across all data sets, with White patients outnumbering other ethnic groups by a factor of approximately 4-6. CONCLUSION 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.

Publisher

American Society of Clinical Oncology (ASCO)

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