theragenomics: drugs and genes

The Clinical Pharmacogenetics Implementation Consortium (CPIC) issues guidelines that are designed to help clinicians and patients alike to understand HOW available genetic test results should be used to optimize drug therapy, rather than WHETHER tests should be ordered. A key assumption underlying the CPIC guidelines is that clinical high-throughput and preemptive (pre-prescription) genotyping will become more widespread, and that clinicians will be faced with having patients’ genotypes available even if they have not explicitly ordered a test with a specific drug in mind.

CPIC assigns levels of pharmacogenetic evidence to pairs of  genes and related drugs according to  (1) PharmGKB Clinical Annotation Levels of Evidence of 1A, 1B, 2A and 2B, or (2) a PharmGKB PGx level for FDA-approved drug labels of i) “actionable pgx”, ii) “genetic testing recommended”, or iii) “genetic testing required”, or (3) based on nomination to CPIC for consideration.

thasso provides here the table below, in which links to each Guideline will take you to a webpage where you can download the guideline manuscript, supplement and any other related files.  There, you will also find information about when the guideline was published and the most recent update of the guideline.  Other links in the table will take you to more information on the PharmGKB website.

# (N=325)GENE
(UNIQUE = 123)
DRUG
(UNIQUE = 208)
PHARMGKB LEVEL OF EVIDENCEPGX ON FDA LABELCPIC PUBLICATIONS (PMID)
1HLA-Babacavir1AGenetic testing requiredCPIC abacavir guideline
22378157
24561393
2HLA-Ballopurinol1A
CPIC allopurinol guideline
23232549
26094938
3CYP2C19amitriptyline1A
CPIC TCAs guideline
23486447
4CYP2D6amitriptyline1AActionable PGxCPIC TCAs guideline
23486447
5UGT1A1atazanavir1A
CPIC atazanavir guideline
26417955
6TPMTazathioprine1AGenetic testing recommendedCPIC thiopurine guideline
21270794
23422873
7DPYDcapecitabine1AActionable PGxCPIC fluoropyrimidine guideline
23988873
8HLA-Acarbamazepine2BActionable PGx
9HLA-Bcarbamazepine1AGenetic testing requiredCPIC carbamazepine guideline
23695185
10CYP2C19clopidogrel1AGenetic testing recommendedCPIC clopidogrel guideline
21716271
23698643
11CYP2D6codeine1AActionable PGxCPIC codeine guideline
22205192
24458010
12CACNA1Sdesflurane3Actionable PGx
13RYR1desflurane3Actionable PGx
14DPYDfluorouracil1AActionable PGxCPIC fluoropyrimidine guideline
23988873
15CYP2D6fluvoxamine1AActionable PGxCPIC SSRIs guideline
25974703
16UGT1A1irinotecan2AActionable PGx
17CACNA1Sisoflurane3Actionable PGx
18RYR1isoflurane3Actionable PGx
19CFTRivacaftor1AGenetic testing requiredCPIC ivacaftor guideline
24598717
20TPMTmercaptopurine1AGenetic testing recommendedCPIC thiopurine guideline
21270794
23422873
21CYP2D6nortriptyline1AActionable PGxCPIC TCAs guideline
23486447
22CYP2D6oxycodone2A

23CYP2D6paroxetine1AInformative PGxCPIC SSRIs guideline
25974703
24CYP2C9phenytoin1A
CPIC phenytoin guideline
25099164
25HLA-Bphenytoin1AActionable PGxCPIC phenytoin guideline
25099164
26G6PDrasburicase1AGenetic testing requiredCPIC rasburicase guideline
24787449
27CACNA1Ssevoflurane3Actionable PGx
28RYR1sevoflurane3Actionable PGx
29SLCO1B1simvastatin1A
CPIC simvastatin guideline
22617227
24918167
30CACNA1Ssuccinylcholine3Actionable PGx
31CYP3A5tacrolimus1A
CPIC tacrolimus guideline
25801146
32CYP2D6tamoxifen2A

33DPYDtegafur1A
CPIC fluoropyrimidine guideline
23988873
34TPMTthioguanine1AActionable PGxCPIC thiopurine guideline
21270794
23422873
35CYP2D6tramadol1BActionable PGx
36CYP2C19voriconazole1BActionable PGx
37CYP2C9warfarin1AActionable PGxCPIC warfarin guideline
21900891
38VKORC1warfarin1AActionable PGxCPIC warfarin guideline
21900891
39CYP2C19citalopram1AActionable PGxCPIC SSRIs guideline
25974703
40CYP2C19escitalopram1A
CPIC SSRIs guideline
25974703
41IFNL3peginterferon alfa-2a1A
CPIC PEG interferon-alpha guideline
24096968
42IFNL3peginterferon alfa-2b1AActionable PGxCPIC PEG interferon-alpha guideline
24096968
43IFNL3ribavirin1A
CPIC PEG interferon-alpha guideline
24096968
44CYP2C9acenocoumarol2A

45CYP4F2acenocoumarol2B

46HLA-Aallopurinol2B

47CYP2D6aripiprazole3Actionable PGx
48CYP2D6atomoxetine2AActionable PGx
49UGT1A1belinostat3Actionable PGx
50SCN1Acarbamazepine2B

51NAGScarglumic acid
Genetic testing required
52CYP2C9celecoxib2AActionable PGx
53G6PDchloramphenicol3

54G6PDchloroquine3Actionable PGx
55G6PDchlorpropamide
Actionable PGx
56G6PDciprofloxacin4

57CYP2C19clomipramine2A
CPIC TCAs guideline
23486447
58CYP2D6clomipramine1AActionable PGxCPIC TCAs guideline
23486447
59G6PDdapsone1BActionable PGx
60CYP2D6desipramine1AActionable PGxCPIC TCAs guideline
23486447
61CYP2C19dexlansoprazole
Actionable PGx
62G6PDdimercaprol3

63POLGdivalproex sodium
Genetic testing required
64CYP2C19doxepin3Actionable PGxCPIC TCAs guideline
23486447
65CYP2D6doxepin1AActionable PGxCPIC TCAs guideline
23486447
66CYP2B6efavirenz1B

67CYP2D6eliglustat
Genetic testing required
68CYP2C19esomeprazole3Actionable PGx
69G6PDglibenclamide3Actionable PGx
70G6PDglimepiride
Actionable PGx
71G6PDglipizide
Actionable PGx
72G6PDhydroxychloroquineliterature support not found

73CYP2C19imipramine2A
CPIC TCAs guideline
23486447
74CYP2D6imipramine1AActionable PGxCPIC TCAs guideline
23486447
75CYP2C19lansoprazole2AInformative PGx
76G6PDlevofloxacinliterature support not found

77G6PDmafenide
Actionable PGx
78G6PDmefloquine3

79G6PDmesalazineliterature support not found

80CYP2B6methadone2A

81G6PDmethylene blue3Actionable PGx
82CYP2D6methylphenidate4

83CYP2D6mirtazapine2A

84G6PDmoxifloxacinliterature support not found

85HPRT1mycophenolic acid
Actionable PGx
86G6PDnalidixic acid
Actionable PGx
87CYP2B6nevirapine2A

88G6PDnitrofurantoin3Actionable PGx
89G6PDnorfloxacinliterature support not foundActionable PGx
90CYP2C19omeprazole2AInformative PGx
91CYP2D6ondansetron1A

92HLA-Boxcarbazepine3Genetic testing recommended
93CYP2C19pantoprazole3Actionable PGx
94G6PDpegloticase3Genetic testing recommended
95G6PDphenazopyridine3

96CYP4F2phenprocoumon2A

97SCN1Aphenytoin2B

98CYP2D6pimozide4Genetic testing required
99G6PDprimaquine3Actionable PGx
100G6PDprobenecidliterature support not foundActionable PGx
101CYP2D6protriptylineliterature support not foundActionable PGx
102G6PDquinine
Actionable PGx
103CYP2C19rabeprazole2AInformative PGx
104CYP2D6risperidone2AInformative PGx
105CYP2C19sertraline1A
CPIC SSRIs guideline
25974703
106CYP2D6sertraline3

107G6PDsodium nitrite
Actionable PGx
108RYR1succinylcholine3Actionable PGx
109G6PDsulfacetamideliterature support not found

110G6PDsulfadiazine
Actionable PGx
111G6PDsulfamethoxazole and trimethoprim3

112G6PDsulfasalazine4Actionable PGx
113CYP2C19trimipramine2A
CPIC TCAs guideline
23486447
114CYP2D6trimipramine1AActionable PGxCPIC TCAs guideline
23486447
115ABL2valproic acid
Actionable PGx
116ASLvalproic acid
Actionable PGx
117ASS1valproic acid
Actionable PGx
118CPS1valproic acid
Actionable PGx
119NAGSvalproic acid
Actionable PGx
120OTCvalproic acid
Actionable PGx
121POLGvalproic acid3Actionable PGx
122GBAvelaglucerase alfa
Genetic testing required
123CYP2D6venlafaxine2AInformative PGx
124CYP2D6vortioxetine3Actionable PGx
125CYP4F2warfarin1B

126CYP2D6dextromethorphan3Genetic testing recommended
127CYP2D6quinidine


128G6PDerythromycin
Actionable PGx
129G6PDsulfisoxazole
Actionable PGx
130CYP2C19carisoprodol3Actionable PGx
131SLC6A4citalopram2A

132G6PDdabrafenib
Actionable PGx
133SLC6A4escitalopram2A

134CYP2C9flurbiprofen
Informative PGx
135CYP2D6iloperidone3Actionable PGx
136UGT1A1pazopanib
Actionable PGx
137CYP2D6perphenazine
Actionable PGx
138HLA-Callopurinol2B

139MT-RNR1aminoglycoside antibacterials1B

140MC4Rantipsychotics2B

141HLA-DPB1aspirin2B

142CFTRataluren2A

143CYP3A5atazanavir2B

144MTHFRcapecitabine3

145HLA-Bcarbimazole2A

146MTHFRcarboplatin2A

147CYP2D6carvedilol3Actionable PGx
148CYP2D6cevimelineno literature support found for PGxActionable PGx
149XPCcisplatin1B

150CYP2C19clobazam2AActionable PGx
151CYP2D6clozapineno literature support found for PGxActionable PGx
152MTHFRcyclophosphamide2A

153CYP3A5cyclosporine2B

154HLA-Bdapsone2A

155CYP2D6darifenacin
Actionable PGx
156CYP2C19diazepam3Actionable PGx
157CYP2C9diclofenac2A

158F5eltrombopag
Actionable PGx
159SERPINC1eltrombopag
Actionable PGx
160CYP2D6fesoterodine
Actionable PGx
161CYP2D6flecainide2A

162MTHFRfluorouracil3

163CYP2D6fluoxetine3

164CYP2D6haloperidol3

165F5hormonal contraceptives for systemic use2A

166NAT2isoniazid2AInformative PGx
167HLA-DQA1lapatinib2BActionable PGx
168MTHFRleucovorin3

169HLA-Bmethazolamide2A

170HLA-Cmethazolamide2B

171HLA-Bmethimazole2A

172MTHFRmethotrexate2A

173CYP2D6metoprolol3Informative PGx
174CYP2D6modafinil
Actionable PGx
175HLA-Bnevirapine2A

176HLA-DRB1nevirapine2B

177UGT1A1nilotinib3Actionable PGx
178CYP2D6olanzapine3Informative PGx
179MTHFRoxaliplatin3

180CYP2D6propafenone2AActionable PGx
181CYP2D6propranolol4Informative PGx
182HLA-Bpropylthiouracil2A

183CYP2D6quinine
Actionable PGx
184DRD2risperidone2A

185CYP3A5sirolimus2A

186CYP3A4tacrolimus2A

187CYP2D6terbinafineno literature support found for PGxInformative PGx
188CYP2D6tetrabenazineno literature support found for PGxGenetic testing required
189CYP2D6thioridazine3Actionable PGx
190CYP2D6timolol3

191CYP2D6tiotropiumno literature support foundInformative PGx
192CYP2D6tolterodine2AActionable PGx
193TNFTumor necrosis factor alpha (TNF-alpha) inhibitors2B

194G6PDvitamin c
Actionable PGx
195CYP2D6zuclopenthixol3

196OPRM1alfentanil2B

197COMTcisplatin3

198CES1clopidogrel2B

199GSTP1cyclophosphamide2A

200ABCB1digoxin2A

201CYP2A7P1efavirenz


202GSTP1epirubicin2A

203OPRM1ethanol2B

204ABCB1fentanyl2B

205OPRM1fentanyl2B

206GSTP1fluorouracil2A

207ITPAinterferon alfa-2b, recombinant2B

208ABCB1methadone2B

209OPRM1methadone3

210ABCB1methotrexate2A

211ABCB1morphine2B

212OPRM1morphine2B

213OPRM1naloxone2B

214OPRM1naltrexone2B

215ABCB1nevirapine2A

216CYP2A7P1nevirapine


217COMTnicotine2A

218ABCB1ondansetron2A

219GSTP1oxaliplatin2A

220ABCB1oxycodone2B

221GSTP1Platinum compounds2A

222ADRB2salbutamol2A

223ADRB2salmeterol2A

224ABCB1simvastatin2A

225BCHEsuccinylcholine3Actionable PGx
226ABCB1sunitinib2B

227ABCB1tramadol2B

228OPRM1tramadol2B

229KCNIP4Ace Inhibitors, Plain2A

230NQO1Alkylating Agents2A

231CBR3anthracyclines and related substances2B

232HAS3anthracyclines and related substances2B

233NQO1anthracyclines and related substances2A

234FKBP5antidepressants2B

235GRIK4antidepressants2B

236HTR2Aantidepressants2B

237ANKK1antipsychotics2B

238GP1BAaspirin2B

239LTC4Saspirin2B

240PTGS1aspirin2B

241APOEatorvastatin2A

242COQ2atorvastatin2B

243KIF6atorvastatin3

244LDLRatorvastatin
Actionable PGx
245FDPSBisphosphonates2B

246CRHR1budesonide2B

247ANKK1bupropion1B

248ADORA2Acaffeine2B

249ACEcaptopril2A

250EPHX1carbamazepine2B

251FLOT1carbamazepine


252EGFcetuximab2B

253FCGR3Acetuximab2B

254GSTM1cisplatin2B

255TMEM43cisplatin


256TP53cisplatin2B

257GRIK4citalopram1B

258HTR2Acitalopram2B

259HTR2Cclozapine2B

260SOD2cyclophosphamide2B

261TP53cyclophosphamide2B

262ANKK1ethanol2B

263DYNC2H1etoposide2B

264NQO1fluorouracil2A

265UMPSfluorouracil4

266CRHR1fluticasone propionate2B

267CRHR1fluticasone/salmeterol2B

268ADD1furosemide2B

269CYP2D6galantamine3Informative PGx
270NT5C2gemcitabine2B

271CETPhmg coa reductase inhibitors2B

272HMGCRhmg coa reductase inhibitors2A

273LPAhmg coa reductase inhibitors2B

274NEDD4Lhydrochlorothiazide2B

275PRKCAhydrochlorothiazide2B

276YEATS4hydrochlorothiazide2B

277C8orf34irinotecan2B

278SEMA3Cirinotecan2B

279UGT1A4lamotrigine2B

280PTGFRlatanoprost2B

281C11orf65metformin2B

282SLC47A2metformin2B

283ATICmethotrexate2B

284MTRRmethotrexate2B

285CYB5R1metoclopramide
Actionable PGx
286CYB5R2metoclopramide
Actionable PGx
287CYB5R3metoclopramide
Actionable PGx
288CYB5R4metoclopramide
Actionable PGx
289CCHCR1nevirapine3

290CHRNA3nicotine2B

291HTR2Colanzapine3

292GSTM1oxaliplatin2B

293UGT2B15oxazepam2B

294HTR1Aparoxetine2B

295XRCC1platinum2B

296DYNC2H1Platinum compounds2B

297ERCC1Platinum compounds2B

298NQO1Platinum compounds2A

299KIF6pravastatin3

300TANC1radiotherapy2A

301HTR2Crisperidone2B

302FCGR3Arituximab2B

303ABCG2rosuvastatin2B

304COQ2rosuvastatin2B

305COL22A1salbutamol2B

306CRHR2salbutamol2B

307TXNRD2Selective serotonin reuptake inhibitors2B

308GNB3sildenafil2B

309ADD1spironolactone2B

310TCF7L2sulfonamides


311ABCC4tenofovir2B

312CRHR1triamcinolone2B

313CALUwarfarin2B

314GGCXwarfarin2B

315PROCwarfarin
Actionable PGx
316PROS1warfarin
Actionable PGx
317NAT1hydralazine


318NAT2hydralazine3Informative PGx
319NAT1isosorbide dinitrate


320NAT2isosorbide dinitrate
Informative PGx
321IFNL4peginterferon alfa-2a1A

322IFNL4peginterferon alfa-2b1A

323ABCB1antidepressants3

324NUDT15azathioprine1B

325NUDT15mercaptopurine1B

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