Genomic data used for research and clinical care must incorporate all populations, including people from underrepresented groups, to realize the promise of personalized medicine. Thus, diverse datasets are required to fully unlock the power of using genomic information for selection and dosing of drugs as recommended by the Clinical Pharmacogenetics Implementation Consortium (CPIC). To assess this need, our group reviewed CPIC data used to produce its guidelines for gene and drug interactions that are widely referenced by clinical providers.

Twenty-three drug-gene guidelines were explored, involving 19 genes. Sixteen had the largest numbers of participants from European populations, while only nine of these genes had any representation at all from American and Oceanian populations. When looking at gene variants that altered the function of these genes, and potentially the effect of the drug on the body, there was great variability in frequency of variants across population groups. We observed that many altered function variants were found in one or more non-European groups that were not reported in the European group. Guidelines and practice driven largely by European data will be biased by the lack of many of the altered function variants found in non-European groups.

More complete data and information are vital for patients and clinicians, especially in underrepresented populations, when evaluating medication and dosage decisions. Health disparities already experienced by underrepresented populations may widen if this data gap is continually ignored. Truly diverse genetic research is essential to benefit and protect all patients.

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