TABLE 2.
Classification and label contents according to biomarker.
| Pharmacogenomic biomarkers | MFDS | FDA | EMA | PMDA | Note |
|---|---|---|---|---|---|
| AGXT | 1 | 1 | Alanine--glyoxylate and serine--pyruvate aminotransferase | ||
| ALDH5A1 | 1 | 1 | Succinic semialdehyde dehydrogenase deficiency | ||
| ALK, EGFR, RAS, RAIIIF | 18 | 28 | 22 | 21 | NSCLC or mCRC |
| Androgen receptor | 1 | Prostate cancer | |||
| APOE | 1 | ||||
| AQP4 (aquaporin 4) | 1 | 3 | 2 | 3 | Nuromyelitis optica spectrum disorder |
| BCHE | 2 | Neuromuscular blocking agent | |||
| BCR/ABL1 (Philadelphia chromosome) | 5 | 10 | 7 | 6 | CML, ALL |
| BLyS (TNFSF13B, BAFF) | 1 | Systemic lupus erythematosus | |||
| BRAF | 5 | 8 | 8 | 6 | Metastatic melanoma |
| BRCA, ERBB2 (HER2), ESR, PGR (hormone receptor) | 19 | 30 | 23 | 13 | Breast cancer or ovarian cancer |
| CASR | 1 | Familial hypocalciuric hypercalcemia | |||
| CCR5 | 1 | 1 | 1 | Human immunodeficiency virus | |
| CD20, MS4A1 (CD20 antigen) | 2 | 2 | 3 | 4 | B-cell non-Hodgkin lymphomas |
| CD30 | 1 | 1 | 1 | 1 | Hodgkin’s lymphoma |
| CD33 | 1 | 1 | 1 | Acute myeloid leukemia | |
| CD38 | 1 | Multiple myeloma | |||
| CFTR | 4 | 3 | Cystic fibrosis | ||
| Chromosome 17p, 11q, 5q | 2 | 5 | 3 | 1 | |
| CIAS1, NLRP3 | 1 | 1 | |||
| CPOX, HMBS, PPOX gene | 1 | Acute hepatic porphyria | |||
| CPS, OTC, AS | 1 | 1 | 1 | 1 | Urea cycle disorders |
| CPT2 | 1 | 1 | Carnitine Palmitoyltransferase II deficiency | ||
| CYB5R | 5 | Methemoglobinemia | |||
| CYP isoforms | 28 | 102 | 39 | 25 | |
| DMD gene | 4 | Duchenne muscular dystrophy | |||
| DPYD | 2 | 2 | 1 | 2 | |
| DRV-RAMs (darunavir resistance-associated mutations) | 1 | ||||
| Factor V Leiden, AT Ⅲ, factor Xa | 1 | 6 | 4 | 1 | |
| FGFR | 3 | 1 | 1 | Female cancer | |
| FLT3 | 2 | 3 | 2 | 1 | Acute myeloid leukemia |
| G6PD | 17 | 37 | 5 | 11 | Hemolytic anemia |
| GAA | 1 | 1 | 1 | Metabolic disorder | |
| GALNS | 1 | 1 | 1 | 1 | Metabolic disorder |
| GLA | 1 | 1 | 1 | 1 | Metabolic disorder |
| Glucocerebrosidase, GBA gene | 1 | 1 | Metabolic disorder | ||
| HBB gene | 3 | ||||
| Hypercholesterolemia | 1 | 1 | 1 | 3 | Metabolic disorder |
| HGPRT | 1 | 1 | 1 | 1 | Metabolic disorder |
| HLA-A or B | 5 | 9 | 2 | 4 | Immune regulation |
| IDH1, IDH2 | 3 | 1 | Metabolic disorder | ||
| IFNL3 | 1 | 12 | 5 | Hepatitis C | |
| IL-12, IL-23 | 1 | 1 | 1 | Immune regulation | |
| IL2RA (CD25 antigen) | 1 | T-cell lymphoma | |||
| INI genotypic resistance | 1 | Human immunodeficiency virus | |||
| JAK2 | 1 | Myelofibrosis | |||
| LEP | 1 | ||||
| LMNA, ZMPSTE24 | 1 | ||||
| MET gene | 2 | 2 | 2 | NSCLC | |
| Microsatellite instability, mismatch repair | 1 | 5 | 1 | 3 | Various cancers |
| MYCN gene | 1 | Neuroblastoma | |||
| NAGS | 1 | 1 | 1 | 1 | Hyperammonemia |
| NAT2 | 1 | 1 | 1 | Metabolic disorder | |
| NECTIN4 | 1 | Metastatic urothelial carcinoma | |||
| Nonspecific | 18 | ||||
| NTRK | 2 | 2 | 2 | 2 | Solid tumors |
| PCSK9 | 2 | ||||
| PDGFRA | 3 | 1 | 1 | Soft tissue sarcoma | |
| PD-L1 | 3 | 7 | 7 | 5 | Cancer immunotherapy |
| P-gp (MDR1) | 1 | Efflux pump | |||
| PML/RARA | 1 | 2 | 1 | 2 | Acute promyelocytic leukemia |
| POLG | 1 | 2 | Alpers–Huttenlocher syndrome | ||
| PRF1, RAB27A, SH2D1A, STXBP2, STX11, UNC13D, XIAP | 1 | Hemophagocytic lymphohistiocytosis | |||
| PROC, PROS1, SERPINC1 (anti-thrombin III) | 6 | ||||
| P-selectin | 1 | Sickle cell disease | |||
| Reductase | 1 | Metabolic disorder | |||
| RET | 3 | 3 | 2 | Various cancers | |
| Retinal phosphodiesterases | 1 | Retinitis pigmentosa | |||
| RYR1 | 1 | Malignant hyperthermia | |||
| SLCO1B1, OCT2 | 2 | 3 | Metabolic disorder | ||
| SMN1, SMN2 | 2 | 2 | 2 | 2 | Spinal muscular atrophy |
| SSTR | 1 | 1 | Gastroenteropancreatic neuroendocrine tumors | ||
| TPMT, NUDT15 | 2 | 4 | 1 | 2 | Cytopenias |
| TPP1 | 1 | 1 | 1 | 1 | Ceroid lipofuscinosis type 2 |
| TTR | 1 | 3 | 3 | 2 | Amyloidosis |
| UGT1A1 | 3 | 11 | 5 | 2 | Metabolic disorder |
MFDS:korean ministry of food and drug safety, FDA: united states food and drug administration, EMA: european medicines agency, PMDA: japanese pharmaceuticals and medical devices agency.
mCRC: metastatic colorectal cancer, NSCLC: non-small cell lung cancer, CML: chronic myelogenous leukemia. ALL: acute lymphoblastic leukemia.
ALK: anaplastic lymphoma receptor tyrosine kinase, EGFR: epidermal growth factor receptor, AQP4: aquaporin 4, BCHE: butyrylcholinesterase, BLyS: B lymphocyte stimulator, HER2: human epidermal growth factor receptor 2, ESR: estrogen receptor, PGR: progesterone receptor, CASR: calcium-sensing receptor, CCR5: C-C chemokine receptor type 5, CFTR: cystic fibrosis transmembrane conductance regulator, CPS: carbamoyl phosphate synthese, OTC: ornthine transcarbamylase, AS: argininosuccinate synthetase, CPT2: carnitine palmitoyltransferase 2, CYB5R: cytochrome b5 reductase, CYP: cytochrome P450, DPYD: dihydropyrimidine dehydrogenase, FGFR: fibroblast growth factor receptors, FLT3: fms-related tyrosine kinase 3, G6PD: glucose-6-phosphate dehydrogenase, GAA: alpha-glucosidase, GALNS: galactosamine (N-acetyl)-6-sulfatase, GLA: alpha-galactosidase A, HBB: beta-globin, HGPRT: hypoxanthine-guanine phosphoribosyltransferase, HLA: human leukocyte antigens, IDH: isocitrate dehydrogenase, IFNL3: interferon lambda 3, IL-12: interleukin 12, IL-2R, alpha: interleukin 2 receptor alpha, INI: integrase inhibitor, JAK2: Janus kinase 2, MDR1: multidrug resistance protein 1, NAGS: N-acetylglutamate synthase, NAT2: N-acetyltransferase 2, NTRK: neurotrophic tyrosine receptor kinase, PCSK9: proprotein convertase subtilisin/kexin type 9, PDGFRA: platelet-derived growth factor receptor A, P-gp: P-glycoprotein, POLG: DNA, polymerase gamma, RYR1: ryanodine receptor 1, SMN2: survival of motor neuron 2, SSTR: somatostatin receptors, TPMT: thiopurinemethyltransferase, TTR: transthyretin, NUDT15: nucleotide diphosphatase, UGT1A1: UDP, glucuronosyltransferase family 1 member A1.