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.
Keywords: ADME; PharmGKB; pharmacogenetics; pharmacogenomics.