Contemporary pharmacogenetic assays in view of the PharmGKB database.

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. Investigated assays were 'Ion AmpliSeq Pharmacogenomics', 'iPLEX PGx Pro', 'DMET Plus,' 'PharmcoScan,' 'Living DNA' and '23andMe.' 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. 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.