Updated Phenotype Terminology

YouScript and Genelex Labs have updated their phenotype names to be consistent with the standardized terms for clinical pharmacogenetic test results proposed by the Clinical Pharmacogenetics Implementation Consortium (CPIC) in the July 2016 issue of Genetics in Medicine. Like CPIC, we believe that implementing standardized terminology is an important step toward the widespread adoption of clinical pharmacogenetics. These standard terms will improve the understanding and interpretation of pharmacogenetic tests, reduce confusion by maintaining consistent nomenclature, and facilitate pharmacogenetic data sharing across diverse health care records systems with clinical decision support. You can find a summary of the updated YouScript/Genelex phenotype names in Table 1 below. Additionally, here is what you can expect to see in regards to these standardized phenotype terms moving forward:

• For drug metabolizing enzymes: (Ex. CYP2C19, CYP2D6, CYP3A5, TPMT, DPYD, etc.)
  • Ultrarapid Metabolizer
  • Rapid Metabolizer
  • Normal Metabolizer
  • Intermediate Metabolizer
  • Poor Metabolizer
• For drug transporters: (Ex. SLCO1B1, SLC6A4, etc.)
  • Normal Function
  • Decreased Function
  • Poor Function
• For high-risk genotype status: (Ex. HLA-B, HLA-A, etc.)
  • Positive
  • Negative

Table 1: YouScript/Genelex Labs Major Phenotype Name Changes