Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice

Area of Science:

• Genomics
• Biomedical Research
• Health Disparities

Background:

• Precision medicine aims to tailor treatments using molecular biomarkers for improved patient outcomes.
• Underrepresentation of diverse populations in genomic research poses a significant challenge to equitable biomarker application.
• Existing genomic databases show disparities in the inclusion of various ancestral groups.

Purpose of the Study:

• To assess population diversity in genomic studies.
• To identify representation gaps in public genomic databases.

Main Methods:

• Analysis of studies cataloged in the Genome-Wide Association Study (GWAS) Catalog.
• Examination of data within the database of Genotypes and Phenotypes (dbGaP).
• Comparison of study inclusion rates across different ancestral populations (European, African, Latin American, Asian).

Main Results:

• Genomic studies significantly underrepresent African, Latin American, and Asian populations compared to European populations.
• This underrepresentation is consistent across different data types and disease areas within the analyzed databases.
• While there is a modest increase in studies including non-European populations, the overall numbers remain low.

Conclusions:

• Current genomic research databases exhibit substantial ancestral population disparities.
• Decisive action is required to enhance diversity in genomic studies.
• Achieving the full potential of precision medicine necessitates equitable representation of all populations.