Frequency of pharmacogenomic variation and medication exposures among participants in the All of Us Research Program.

Nearly all All of Us participants (99.5%) had a predicted pharmacogenomic phenotype with prescribing recommendations, and 24.4% had both an actionable phenotype and prior exposure to an impacted medication.

• Why it matters: Limited diversity in pharmacogenomics research has slowed clinical translation of precision prescribing across populations.
• What they did: Using whole-genome sequencing plus electronic health records from nearly 100,000 All of Us participants, the study assessed variant frequencies across 16 pharmacogenes and predicted phenotypes and medication exposures.
• The result: The analysis found 100% carried at least one pharmacogenomic variant and identified thousands of previously unrecognized variants and hundreds of alleles/phenotypes with frequency deviations or unreported patterns, especially in Americas and African ancestry groups.

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