鉴于 PharmGKB 数据库，当代药物遗传学检测。
Contemporary pharmacogenetic assays in view of the PharmGKB database.
机构信息
Laboratory of Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, 9000 Ghent, Belgium.
Ghent-Fertility & Stem Cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.
出版信息
Pharmacogenomics. 2019 Mar;20(4):261-272. doi: 10.2217/pgs-2018-0167. Epub 2019 Mar 18.
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.
目的
将 6 种现代 PGx 检测方法与 Pharmacogenomics Knowledge Base (PharmGKB) 进行比较，以确定这些检测方法可评估目前已知的 PGx 基因型的比例。
材料与方法
研究的检测方法包括“Ion AmpliSeq Pharmacogenomics”、“iPLEX PGx Pro”、“DMET Plus”、“PharmcoScan”、“Living DNA”和“23andMe”。
结果
PharmGKB 包含 3474 个临床注释，其中 75%、70%和 45%可分别由 PharmacoScan、Living DNA 和 23andMe 确定。其他检测方法旨在检测特定的 PGx 变体子集。
结论
检测所有已知的 PGx 变体仅占当前检测方法能力的一小部分。不幸的是，这并未实现。此外，选择的不一定是具有最高效果或最高证据的变体。
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