Contemporary pharmacogenetic assays in view of the PharmGKB database.

Aim:Six modern PGx assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) to determine the proportion of the currently known PGx genotypes that are assessed by these assays. Materials & methods: Investigated assays were Ion AmpliSeq Pharmacogenomics', iPLEX PGx Pro', DMET Plus,' PharmcoScan,' Living DNA' and 23andMe.' Results: PharmGKB contains 3474 clinical annotations of which 75, 70 and 45% can be determined by PharmacoScan, Living DNA and 23andMe, respectively. The other assays are designed to test a specific subset of PGx variants. Conclusion: Assaying all known PGx variants would only comprise a minor fraction of the current assays' capacity. Unfortunately, this is not achieved. Moreover, not necessarily the variants with the highest effects or the highest evidence are selected.