🎙️ Episode 16: Equity in Focus: Building a Truly Global Genomic Landscape

🎙️ Episode 16: Equity in Focus: Building a Truly Global Genomic Landscape

🧬 In this episode of Base by Base, we address one of the most pressing issues in human genomics: the need to close the ancestral data gap. Published in Cell Genomics, this commentary by Ana Luiza Arruda, Andrew Morris, and Eleftheria Zeggini calls attention to how genomic medicine remains disproportionately centered on individuals of European ancestry—jeopardizing its promise of precision health for all.

The authors highlight why expanding tissue-specific, multi-ancestry molecular datasets is critical for moving genomics forward—from discovery to clinical translation—while promoting equity and inclusion in healthcare innovation.

🔍 Key insights include:

• Systemic underrepresentation: Despite global diversity, most GWAS and molecular QTL data derive from European populations—leaving African, Indigenous, South Asian, and Latin American ancestries critically underrepresented.

• Biological impact: Genetic variants specific to diverse populations often remain undiscovered or uninterpretable due to lack of relevant tissue-specific molecular data, such as gene expression, proteomics, and epigenomics.

• Tissue specificity matters: Most available molecular data come from blood samples, but disease-relevant regulation happens in diverse tissues. Without this diversity, causal variants may be missed or misinterpreted.

• Examples of progress: Initiatives like GTEx, TOPMed, and the Human Cell Atlas provide initial steps toward inclusive molecular catalogs—but sample sizes and tissue variety for non-European ancestries remain small and underpowered.

• Call to action: The authors propose increased funding, infrastructure, community engagement, and global collaboration to fill these gaps. Analytical methods must evolve to handle ancestry-aware integration of complex omics data.

This episode is a wake-up call: advancing equity in human genomics isn’t optional—it’s essential. Only by embedding diversity across every layer of genomic research can we realize the full potential of personalized medicine for all populations.

📖 Reference:
Arruda, A.L., Morris, A.P., & Zeggini, E. (2024). Advancing equity in human genomics through tissue-specific multi-ancestry molecular data. Cell Genomics, 4(2), 100485. https://doi.org/10.1016/j.xgen.2023.100485

📜 License:
This episode is based on an open access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/