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 Aggregator[1][1] (ALFA), genome Aggregation Database[2][2] (gnomAD), Exome Aggregation Consortium[2][2] (ExAC), and Japanese Multi Omics Reference Panel[3][3], and examined genetic heterogeneity. We also analyzed meta-data from the Pharmacogenomic Knowledge Base[4][4] (PharmGKB) and explored the biogeographical origin of supporting evidence for clinical annotations. Most arrays included the minimum allele set recommended by Bousman et al[5][5]. 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. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study was funded by the Medical Research Future Fund (APP1200644). J.J.M. was supported by MRFF APP1200644. S.E.M. is supported by a National Health and Medical Research Council Investigator Grant (APP1172917). We would like to thank Stanford University and the PharmGKB resource or providing the computational resources that contributed to this study. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present study are available upon reasonable request to the authors. [1]: #ref-1 [2]: #ref-2 [3]: #ref-3 [4]: #ref-4 [5]: #ref-5