Are Different Populations Fairly Represented in Single-Cell Omic Atlases?

Area of Science:

• Genomics
• Computational Biology
• Population Health

Background:

• Single-cell omic atlases are revolutionizing biological and medical research.
• Systematic evaluation of demographic representativeness in these atlases is lacking.
• Existing atlases may perpetuate health disparities due to skewed representation.

Purpose of the Study:

• To systematically evaluate the demographic representativeness of major single-cell atlases.
• To identify and quantify population under-representation and over-representation.
• To propose actionable strategies for improving diversity in single-cell research.

Main Methods:

• Analysis of over 13,500 samples from Human Cell Atlas (HCA), Human Tumor Atlas Network (HTAN), and PsychAD Consortium.
• Benchmarking atlas demographics against global and US general and disease-prevalence data.
• Assessment of ancestry and sex representation within annotated samples.

Main Results:

• Pervasive over-representation of European ancestry and under-representation of Asian and Latino individuals across atlases.
• Nearly 70% of HCA samples lacked ancestry annotation; annotated samples showed a sixfold European over-representation.
• HTAN tumors were 69% European, with some cancer types exhibiting sex skews.
• PsychAD was nearly two-thirds European.

Conclusions:

• Current single-cell resources risk embedding inequities into AI, biomarker discovery, and therapeutics.
• Disparities in demographic representation can exacerbate existing health inequities.
• An actionable checklist is provided to guide researchers in designing more equitable single-cell studies.