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Published on: May 9, 2017
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Bridging genomics' greatest challenge: The diversity gap.
Manuel Corpas1, Mkpouto Pius2, Marie Poburennaya3
1Life Sciences, University of Westminster, 115 New Cavendish Street, W1W 6UW London, UK; The Alan Turing Institute, London, UK; Cambridge Precision Medicine Ltd., ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK.
Cell Genomics
|December 18, 2024
Summary
Diverse representation in biomedical data is crucial for health equity. Current genomic datasets, including GWASs and DTC testing, inadequately represent global ancestral diversity, risking health disparities.
Area of Science:
- Biomedical Data Science
- Genomics
- Health Equity
Background:
- Diverse representation in biomedical data is essential for equitable healthcare.
- Lack of representation perpetuates health disparities and introduces biases against underrepresented ancestral groups.
- Genomic insights are increasingly vital for evidence-based medicine.
Purpose of the Study:
- To quantitatively assess the representation of ancestries in key human genomics datasets.
- To compare the proportional representation in datasets against global census data and genetic diversity.
- To highlight the imperative for strategic inclusion of global genomic diversity in research.
Main Methods:
- Quantitative assessment of ancestry representation across human genomics datasets.
- Analysis included genome-wide association studies (GWASs), pharmacogenomics, clinical trials, and direct-to-consumer (DTC) genetic testing.
- Comparison of dataset ancestry proportions with global population census data.
Main Results:
- Existing genomic datasets show insufficient representation of global ancestral genetic diversity.
- Certain populations are overrepresented relative to their global population size and genomic diversity.
- This imbalance risks exacerbating health disparities for underrepresented groups.
Conclusions:
- Current genomic datasets do not adequately reflect global ancestral diversity.
- Overrepresentation of some groups and underrepresentation of others in genomic data can worsen health inequities.
- Strategic efforts are imperative to ensure comprehensive global genomic diversity in datasets for equitable healthcare advancements.
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