Diversity and level of evidence evaluation of commercial pharmacogenomic testing for mental health

This study examined arrays offered by commercial pharmacogenomic (PGx) testing services for mental health care in Australia and the United States, with a focus on utility for non-European populations. Seven of the 14 testing services we identified provided the manifests of their arrays. We examined allele frequencies for each variant using data from the Allele Frequency Aggregator1 (ALFA), genome Aggregation Database2 (gnomAD), Exome Aggregation Consortium2 (ExAC), and Japanese Multi Omics Reference Panel3, and examined genetic heterogeneity. We also analyzed meta-data from the Pharmacogenomic Knowledge Base4 (PharmGKB) and explored the biogeographical origin of supporting evidence for clinical annotations. Most arrays included the minimum allele set recommended by Bousman et al5. However, few arrays included HLA-A or HLA-B. The most diverse allele frequencies were seen for variants in CYP3A5, ADRA2A and GNB3, with European and African populations showing the largest differences. Most evidence listed in PharmGKB originated from European or unknown ancestry samples.