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Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

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Abstract
Genotyping of pharmacogenetic (PGx) genes can provide informed personalized drug therapy and can prevent common adverse drug reactions. Today, there are several tests commercially available to genotype individual Single Nucleotide Polymorphisms (SNPs) in PGx genes. In this study seven modern SNP genotyping assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) database to determine what proportion of the currently known pharmacogenetic effects is measured by these assays. These seven assays are the “Ion AmpliSeqTM Pharmacogenomics Panel”, the “VeraCode® ADME Core Panel”, the “iPLEX® PGx Pro Panel”, “DMETTM Plus”, “PharmcoScanTM”, “Living DNA”, and “23andMe”. The PharmGKB database contains 3474 clinical annotations, which describe a variant-drug interaction. 94% of PharmGKB’s clinical annotations can be determined with SNP assays. The other part can be determined with haplotypes and copy number variations. Of PharmGKB’s clinical annotations, 76%, 68%, and 44% can be determined by PharmacoScanTM, Living DNA, and 23andMe respectively. The other described assays, are designed to test only specific subset of PGx SNPs.

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Chicago
Tilleman, Laurentijn, Dieter Deforce, and Filip Van Nieuwerburgh. 2018. “Comparison of Seven Contemporary Pharmacogenetic Assays with the PharmGKB Database.” In European Human Genetics Conference, Abstracts.
APA
Tilleman, L., Deforce, D., & Van Nieuwerburgh, F. (2018). Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database. European Human Genetics conference, Abstracts. Presented at the European Human Genetics conference 2018 (ESHG 2018).
Vancouver
1.
Tilleman L, Deforce D, Van Nieuwerburgh F. Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database. European Human Genetics conference, Abstracts. 2018.
MLA
Tilleman, Laurentijn, Dieter Deforce, and Filip Van Nieuwerburgh. “Comparison of Seven Contemporary Pharmacogenetic Assays with the PharmGKB Database.” European Human Genetics Conference, Abstracts. 2018. Print.
@inproceedings{8589995,
  abstract     = {Genotyping of pharmacogenetic (PGx) genes can provide informed personalized drug therapy and can prevent common adverse drug reactions. Today, there are several tests commercially available to genotype individual Single Nucleotide Polymorphisms (SNPs) in PGx genes. In this study seven modern SNP genotyping assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) database to determine what proportion of the currently known pharmacogenetic effects is measured by these assays. These seven assays are the {\textquotedblleft}Ion AmpliSeqTM Pharmacogenomics Panel{\textquotedblright}, the {\textquotedblleft}VeraCode{\textregistered} ADME Core Panel{\textquotedblright}, the {\textquotedblleft}iPLEX{\textregistered} PGx Pro Panel{\textquotedblright}, {\textquotedblleft}DMETTM Plus{\textquotedblright}, {\textquotedblleft}PharmcoScanTM{\textquotedblright}, {\textquotedblleft}Living DNA{\textquotedblright}, and {\textquotedblleft}23andMe{\textquotedblright}. The PharmGKB database contains 3474 clinical annotations, which describe a variant-drug interaction. 94\% of PharmGKB{\textquoteright}s clinical annotations can be determined with SNP assays. The other part can be determined with haplotypes and copy number variations.  Of PharmGKB{\textquoteright}s clinical annotations, 76\%, 68\%, and 44\% can be determined by PharmacoScanTM, Living DNA, and 23andMe respectively. The other described assays, are designed to test only specific subset of PGx SNPs.},
  author       = {Tilleman, Laurentijn and Deforce, Dieter and Van Nieuwerburgh, Filip},
  booktitle    = {European Human Genetics conference, Abstracts},
  language     = {eng},
  location     = {Milan, Italy},
  title        = {Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database},
  year         = {2018},
}