Racial and ethnic disparities in a real-world precision oncology data registry

Abstract

Biorepositories enable precision oncology research by sharing clinically annotated genomic data, but it remains unknown whether these data registries reflect the true distribution of cancers in racial and ethnic minorities. Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies directly comparing mutational profiles between racial/ethnic groups and limit generalizability of biomarker discoveries to all populations.

Fig. 1. Representation of racial/ethnic samples in GENIE relative to US cancer population.

Squares represent the ratio of observed to expected number of samples in GENIE; whiskers show 95% CI. Ratios to the left of the black line (1.00) indicate under-representation. Overall ratios for a given racial/ethnic group are indicated by green diamonds and red lines. A White. B Asian + PI. C Black. D Hispanic. E Native American.

Fig. 2. Sample size estimation to detect differences in mutational proportions between white and racial/ethnic minority patients at varying power increments.

Estimated number of samples (y-axis, n1) required to detect differences in mutational proportions between white and non-white patients at varying statistical power (solid curved lines) for different effect sizes (x-axis). All horizontal dashed lines indicate the current actual number of samples in GENIE for a given racial/ethnic group. Black (dashed pink), Hispanic (dashed orange), Asian (dashed dark green), Native American (dashed black), and Pacific Islander (dashed purple) racial/ethnic groups are displayed. Power = 0.8 is represented by the solid dark blue line. A Primary Cancer. B Metastatic Cancer.