Racial/Ethnic Disparities in Genomic Sequencing.

Area of Science:

• Genomics
• Cancer Research
• Health Disparities

Background:

• Cancer molecular biology exhibits heterogeneity across racial and ethnic groups.
• The representation of racial minorities in large-scale genomic sequencing is not well understood.
• Underrepresentation may exacerbate existing health care disparities.

Purpose of the Study:

• To assess the racial distribution of samples in The Cancer Genome Atlas (TCGA).
• To quantify the deficit in samples needed to detect common mutational frequencies in racial minorities within TCGA.

Main Methods:

• Retrospective review of 5729 samples from 10 tumor types in the TCGA data portal.
• Calculation of required additional samples to detect 10% and 5% mutation frequencies based on median somatic mutational frequency per racial group.

Main Results:

• The TCGA dataset comprised 77% white, 12% black, 3% Asian, and 3% Hispanic samples, overrepresenting white individuals compared to the US population.
• White patients' data were sufficient to detect 10% mutation frequencies across all analyzed tumor types.
• Racial minority groups lacked sufficient samples to detect 10% mutation frequencies in most cancers, and 5% frequencies in all but a few exceptions.

Conclusions:

• Ethnic diversity likely influences cancer pathogenesis and the generalizability of TCGA findings to minority populations.
• Genomic sequencing efforts must actively include diverse populations to avoid widening health care disparities.
• Dedicated efforts are needed to ensure equitable representation in cancer genomics research.