Variant Interpretation in Current Pharmacogenetic Testing

J Pers Med. 2020 Oct 31;10(4):204. doi: 10.3390/jpm10040204.


In the current marketplace, there are now more than a dozen commercial companies providing pharmacogenetic tests. Each company varies in the panel of genes they test and the variants they are able to screen for. The reports generated by these companies provide phenotypic interpretations of pharmacogenes and clinically actionable gene-drug interactions based on internally curated data and proprietary algorithms. The freedom to choose the types of evidence to include versus exclude in interpreting genomics has created reporting discrepancies in the industry. The case report presented here reveals the discordant phenotype analysis provided by two pharmacogenetic testing companies. The uncertainty and unnecessary distress experienced by the patient highlights the need for consensus in phenotype reporting within the industry.

Keywords: CPIC; nomenclature; pharmacogenetics; pharmacogenomics; precision medicine; standardization.

Publication types

  • Case Reports