Table 2.
Gene-drug pair | Number of TPP sites reporting this data | Numbers of distinct test results* | Numbers of test results reported in the EHR† | Numbers (%) of actionable results‡ | CPIC Guideline | FDA Label |
---|---|---|---|---|---|---|
CYP2C19-clopidogrel | 7 | 57 | 24,924 | 7,221 (29.0%) | ✓ | ✓ |
TPMT-thiopurines | 6 | 26 | 20,170 | 1,987 (9.4%) | ✓ | ✓ |
SLCO1B1-simvastatin | 5 | 30 | 14,508 | 3,513 (24.2%) | ✓ | |
CYP2C9/VKORC1-warfarin | 3 | 30 | 15,545 | 5,054 (32.5%) | ✓ | ✓ |
CYP2D6-codeine | 2 | 193 | 2,533 | 275 (10.8%) | ✓ | ✓ |
IFNL3- ribavirin, peginterferon | 2 | 3 | 6,453 | 4,437 (68.8%) | ✓ | |
DPYD- fluorouracil, capecitabine | 1 | 13 | 2,371 | 9 (0.4%) | ✓ | ✓ |
HLAB-abacavir | 1 | 2 | 10,816 | 432 (4.0%) | ✓ | ✓ |
Total | 354 | 97,320 | 22,928 (23.6%) | 8 (100%) | 6 (75%) |
Result formats were gene-specific (e.g., IFNL3 was reported as the genotype for a single variant [rs12979860], HLAB was reported as either positive or negative for *57:01, CYP2C9/VKORC1 was reported as the compound diplotype, and the results for all other genes were reported as the diplotype for the single gene based on multiple genotyped variants)
Includes 1,286 no calls and ambiguous calls (1.4%)
Actionable was defined by CPIC guidelines for all gene-drug pairs, except for CYP2C9/VKORC1 where actionable was defined by the FDA label when the expected dose did not include the standard 5mg starting dose, and the individual sites defined their own actionable CYP2D6-codeine results
CPIC = Clinical Pharmacogenetics Implementation Consortium; CYP2C19 = gene for cytochrome P450 family 2 subfamily C member 19; CYP2C9 = gene for cytochrome P450 family 2 subfamily C member 9; DPYD = gene for dihydropyrimidine dehydrogenase; EHR = EHR; FDA = United States Food & Drug Administration; HLA-B = gene for major histocompatibility complex, class I, B; IFNL3 = gene for interferon, lambda 3, also known as interleukin 28B; SLCO1B1 = gene for solute carrier organic anion transporter family member 1B1; TPMT = gene for thiopurine S-methyltransferase; VKORC1 = gene for vitamin K epoxide reductase complex subunit 1.