Table 2.
Phenotype frequencies and actionability
| Gene | Phenotype | Number of subjects | Frequency | Actionable |
|---|---|---|---|---|
| CYP2B6 | — | 1,577 | — | — |
| PM | 105 | 6.7% | Yes | |
| IM | 528 | 33.5% | Yes | |
| EM | 944 | 59.9% | — | |
| CYP2C19 | — | 15 | — | — |
| PM | — | Yes | ||
| IM | 4 | 26.7% | Yes | |
| EM | 11 | 73.3% | — | |
| UM | — | — | Yes | |
| CYP2C9 | 1,583 | — | — | |
| PM | 59 | 3.7% | Yes | |
| IM | 487 | 30.2% | Yes | |
| EM | 1,037 | 65.5% | — | |
| CYP2D6 | — | 1,576 | — | — |
| PMa | 66 | 4.2% | Yes | |
| Not assigned | 1,510 | 95.8% | — | |
| CYP3A5 | — | 1,163 | — | — |
| PM | 882 | 75.8% | — | |
| IM | 263 | 22.6% | Yes | |
| EM | 18 | 1.5% | Yes | |
| DPYD | — | 1,581 | — | — |
| AS: 0 | — | — | Yes | |
| AS: 0.5 | — | — | Yes | |
| AS: 1 | 21 | 1.3% | Yes | |
| AS: 1.5 | 95 | 6.0% | Yes | |
| AS: 2 | 1,465 | 92.7% | — | |
| F5L | — | 1,583 | — | — |
| F5 Absent | 1,504 | 95.0% | — | |
| F5 Heterozygous | 78 | 4.9% | Yes | |
| F5 Homozygous | 1 | 0.06% | Yes | |
| SLCO1B1 | — | 1,579 | — | — |
| Normal function | 1,172 | 74.2% | ||
| Decreased function | 371 | 23.5% | Yes | |
| Poor function | 36 | 2.3% | Yes | |
| TPMT | — | 1,562 | — | — |
| PM | 1 | 0.06% | Yes | |
| IM | 139 | 8.9% | Yes | |
| EM | 1,422 | 91.0% | — | |
| VKORC1 | — | 1,549 | — | — |
| Normal function (1173CC) | 564 | 36.4% | — | |
| Decreased function (1173CT) | 723 | 46.7% | — | |
| Poor function (1173TT) | 262 | 16.9% | Yes |
Phenotypes are based on the Ubiquitous Pharmacogenomics consortium translation tables, actionability is based on the Dutch Pharmacogenetic Working Group guidelines, whereas actionable is defined as a phenotype accompanied by at least one dosing advise.
AS, Activity Score; EM, extensive metabolizer; F5, Factor V Leiden; IM, intermediate metabolizer; PM, poor metabolizer; UM, ultra‐rapid metabolizer.
a
Poor metabolizer phenotype assigned based on diplotype consisting of two null‐alleles. For all other diplotypes no CYP2D6 phenotype could be assigned as copy number variants could not be determined.