Table 2.
Most Common Genetic Biomarkers Contained in Clinical Pharmacogenetic Recommendations by Therapeutic Area.
| Therapeutic Area | Most Common Genetic Biomarkers Within Pharmacogenetic Recommendations (Frequency, Percent) | ||||
|---|---|---|---|---|---|
| Oncology | ERBB2 (35, 16.1%) | ESR (33, 15.2%) | PGR (29, 13.4%) | EGFR (20, 9.2%) | ALK; BRAF (16, 7.4%) |
| Hematology | BCR-ABL1 (17, 21.5%) | TPMT (5, 6.3%) | 11q Del; 17p Del; FLT3; IDH1; IDH2; NUDT15; TP53 (4, 5.1%) | MS4A1; KIT; NPM1; SLC22A1 (3, 3.8%) | IGHV; TNFRSF8; UGT1A1 (2, 2.5%) |
| Psychiatry | CYP2D6 (47, 72.3%) | CYP2C19 (17, 26.2%) | CYP2C9 (1, 1.5%) | ||
| Cardiovascular | CYP2D6 (6, 14.0%) | CYP2C19 (5, 11.6%) | CYP2C9; F5; PROC; PROS1 (4, 9.3%) | F2; VKORC1 (3, 7.0%) | CYB5R; SERPINC1 (2, 4.7%) |
| Anesthetics | RYR1 (15, 40.5%) | CACNA1S (14, 37.8%) | G6PD (7, 18.9%) | BCHE (1, 2.7%) | |
| Neurology | HLA-B (7, 21.2%) | CYP2D6 (6, 18.2%) | CYP2C19 (5, 15.2%) | CYP2C9 (3, 9.1%) | HLA-A; SMN2; TTR (2, 6.1%) |
| Antivirals | IFNL3 (15, 57.7%) | NS5A; HLA-B; UGT1A1 (3, 11.5%) | CYP2B6 (2, 7.7%) | ||
| Anti-Infectives | G6PD (14, 73.7%) | CYP2C19 (3, 15.8%) | CYB5R; CYP2D6 (1, 5.3%) | ||
| Gastroenterology | CYP2C19; CYP2D6 (6, 31.6%) | G6PD (3, 15.8%) | ASS1; CPS1; CYB5R; OTC (1, 5.3%) | ||
| All Other TAs | CYP2D6 (14, 20.6%) | G6PD (10, 14.7%) | CYP2C9 (7, 10.3%) | CFTR (6, 8.8%) | CYP2C19; TPMT (3, 4.4%) |
Boxes containing multiple genes indicate that each gene individually has the designated frequency. “All Other therapeutic areas” category includes pulmonary, rheumatology, endocrinology, analgesic, urology, immunosuppressant, medical countermeasure, metabolism, reproduction, addiction, and bone products.
Abbreviations: 11q Del- chromosome 11q deletion; 17p Del- chromosome 17p deletion; ALK- anaplastic lymphoma kinase; ASS1- argininosuccinate synthase 1; BCHE- butyrylcholinesterase; BCR-ABL1- breakpoint cluster region- ABL proto-oncogene fusion; BRAF- B-Raf proto-oncogene; CACNA1S- calcium voltage-gated channel subunit alpha 1s; CFTR- cystic fibrosis transmembrane conductance regulator; CPS1- carbamoyl-phosphate synthase 1; CYB5R- cytochrome B5 reductase 1; CYP2B6- cytochrome P450 2B6; CYP2C19- cytochrome P450 2C19; CYP2C9- cytochrome P450 2C9; CYP2D6- cytochrome P450 2D6; EGFR- epidermal growth factor receptor; ERBB2- human epidermal growth factor receptor 2; ESR- estrogen receptor gene family; F2- coagulation factor II; F5- coagulation factor V; FLT3- fms-related tyrosine kinase 3; G6PD- glucose-6-phosphate dehydrogenase; HLA-A/B- major histocompatibility complex, class I, A/B; IGHV- immunoglobulin heavy chain variable region; IDH1/2- isocitrate dehydrogenase 1/2; IFNL3- interferon lambda-3; KIT- proto-oncogene c-KIT; MS4A1- membrane spanning 4-domains A1; NPM1- nucleophosmin 1; NS5A- non-structural gene 5A (hepatitis C virus); NUDT15- nudix hydrolase 15; OTC- ornithine carbamoyltransferase; PGR- progesterone receptor; PROC- vitamin K-dependent protein C; PROS1- vitamin K-dependent protein S; RYR1- ryanodine receptor 1; SERPINC1- serpin family C member 1; SLC22A1- solute carrier family 22 member 1; SMN2- survival Of motor neuron 2; TA = therapeutic area; TNFRSF8- tumor necrosis factor receptor superfamily, member 8; TP53- tumor protein P53; TPMT- thiopurine S-methyltransferase; TTR- transthyretin; UGT1A1- UDP-glucuronosyltransferase family 1 member A1; VKORC1- vitamin K epoxide reductase complex subunit 1.