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

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.

⚡ This is an original paraphrased summary — not copied from the abstract. Full paper available at the source link below.

• 1 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.
• 2 Here, we discuss why this inequity poses a problem for genomic medicine and the reasons for the low transferability of PRS across populations.
• 3 We also survey the ancestry representation of published GWAS and investigate how estimates of ancestry diversity in GWASparticipants might be biased.

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

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