AI Article Synopsis
- The study aimed to compare six modern pharmacogenomics (PGx) assays with the Pharmacogenomics Knowledge Base (PharmGKB) to see how many known PGx genotypes they assess.
- The assays analyzed included Ion AmpliSeq Pharmacogenomics, iPLEX PGx Pro, DMET Plus, PharmacoScan, Living DNA, and 23andMe.
- Results showed that while PharmacoScan, Living DNA, and 23andMe could determine 75%, 70%, and 45% of the clinical annotations from PharmGKB, the overall capacity of current assays covers only a minor fraction of known variants, often missing those with the strongest evidence.
Article 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.
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Source |
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| http://dx.doi.org/10.2217/pgs-2018-0167 | DOI Listing |
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