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
Old Phenotype | New Phenotype |
CYP2C19 Ultra Rapid Metabolizer
(*1/*17 and *17/*17) |
CYP2C19 Rapid Metabolizer (*1/*17)
CYP2C19 Ultrarapid Metabolizer (*17/*17) |
CYP3A5 Expresser
CYP3A5 Intermediate Expresser CYP3A5 Non-Expresser |
CYP3A5 Normal Metabolizer
CYP3A5 Intermediate Metabolizer CYP3A5 Poor Metabolizer |
DPYD Normal Activity
DPYD Intermediate Activity DPYD Deficient Activity |
DPYD Normal Metabolizer
DPYD Intermediate Metabolizer DPYD Poor Metabolizer |
TPMT Normal Activity
TPMT Intermediate Activity TPMT Deficient Activity |
TPMT Normal Metabolizer
TPMT Intermediate Metabolizer TPMT Poor Metabolizer |
SLCO1B1 Normal Transporter
SLCO1B1 Intermediate Transporter SLCO1B1 Poor Transporter |
SLCO1B1 Normal Function
SLCO1B1 Decreased Function SLCO1B1 Poor Function |
SLC6A4 Normal Serotonin Transporter
SLC6A4 Intermediate Serotonin Transporter SLC6A4 Poor Serotonin Transporter |
SLC6A4 Normal Function
SLC6A4 Decreased Function SLC6A4 Poor Function |