Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine.

🤖 Plain-English Summary

One goal of genomic medicine is to uncover an individual's genetic risk for disease, which generally requires data connecting genotype to phenotype, as done in genome-wide association studies (GWAS). We also survey the ancestry representation of published GWAS and investigate how estimates of ancestry diversity in GWASparticipants might be biased.

🔑 Key Findings

• While there may be clinical promise to employing prediction tools such as polygenic risk scores (PRS), it currently stands that individuals of non-European ancestry may not reap the benefits of genomic medicine because of underrepresentation in large-scale genetics studies.
• Here, we discuss why this inequity poses a problem for genomic medicine and the reasons for the low transferability of PRS across populations.
• We also survey the ancestry representation of published GWAS and investigate how estimates of ancestry diversity in GWASparticipants might be biased.

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