Laurentijn Tilleman1, Jana Weymaere1, Björn Heindryckx2, Dieter Deforce1, Filip Van Nieuwerburgh1. 1. Laboratory of Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium. 2. Ghent-Fertility & Stem Cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.
Abstract
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.
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.