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Nitish Rai MMG013071

Male 5/6/2023
Nitish Rai

©Mapmygenome MMG013071MMP0523540 1
©Mapmygenome MMG013071MMP0523540 2
SNAPSHOT OF YOUR DNA RESULTS

BETA BLOCKER

Carvedilol Cardivas, Carvedil

Metoprolol Met-Xl, Metocard

Propranolol Ciplar, Probeta

Atenolol Aten, Tenolol

STATINS

Rosuvastatin Rosuvas, Roseday

Atorvastatin Atocor, Lipitor

Simvastatin Simvotin, Simvas

Lovastatin Lovex, Elstatin

Pitavastatin Pivasta, Pitava

Pravastatin Prastatin, Pravator

ANTICOAGULANTS

Acenocoumarol Acenomac, Acitrom

Warfarin Warf, Uniwarfin

Caution: Do not change or alter the medicines without consulting your doctor
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ANTICOAGULANTS

Phenprocoumon Marcoumar, Marcumar

ANTIARYTHMICS

Propaphenone Pradil, Rhythmonorm

VASODILATORS

BIDIL Sorbitrate Hf, Isolazine

ANTIPLATELET

Clopidogrel Clopivas, Clopitab

Prasugrel Prax, Prasuvas

Ticagrelor Brilinta, Axcer

ANTIHYPERTENSIVES

Amlodipine Amlong, Stamlo

Captopril Angiopril, Capotril

Hydrochlorothiazide Aquazide, Hydrazide

Lisinopril Prinivil, Qbrelis

Caution: Do not change or alter the medicines without consulting your doctor

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SULPHONYL UREA ANTIDIABETICS

Glipizide Diaglip, Glyzip

Glimeperide Glimestar, Glimy

BIGUANIDE

Metformin Glycomet, Metsmall

ANTIPSYCHOTICS

Thioridazine Zeneril, Ridazin

Pimozide R Zep, Neurap

Perphenazine Trilafon, Etrafon

Iloperidone Ilopt, Ilofast

Olanzapine Oleanz, Olanex

Risperidone Risina, Rispond

Clozapine Kloza, Lozapin

Aripiprazole Arpizol, Arole

Zuclopenthixol Cisordinol, Clopixol

Caution: Do not change or alter the medicines without consulting your doctor
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ANTIPSYCHOTICS

Chlorpromazine Chlorpromazine,
Chlorotame

Lurasidone Latuda, Luramax

Amisulpuride Cizorest, Sulpitac

Paliperidone Invega, Invega Hafyera

Quetiapine Quel, Q-mind

Haloperidol Halidace, Hexidol

Trifluoperazine Espazine, Talecalm

SELECTIVE SEROTONIN REUPTAKE INHIBITORS - SSRI

Fluoxetine Flunil, Fluxain

Venlafaxine Venlor, Veniz

Sertraline Zosert, Daxid

Citalopram Citopam, Ciprexa

Paroxetine Xet, Paxidep

Fluvoxamine Fluvoxin, Uvox

Escitalopram Cipralex, Alwel

TRICYCLIC ANTI-DEPRESSANTS

Caution: Do not change or alter the medicines without consulting your doctor
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TRICYCLIC ANTI-DEPRESSANTS

Trimipramine Sapilent, Temaril

Protriptyline Vivactil

Nortriptyline Nordep, Norpress

Imipramine Depsonil, Imprin

Doxepin Doxedep, Doxure

Desipramine Norpramin, Pertofrane

Amitriptyline Tryptomer, Amit

Clomipramine Clomistar, Clomidep

AMINOKETONE ANTIDEPRESSANTS

Bupropion Smoquit-Sr, Nicotex

SELECTIVE NOREPINEPHRINE REUPTAKE INHIBITORS

Atomoxetine Attentrol, Tomoxetin

ANXIOLYTICS

Diazepam Valium, Calmpose

Clobazam Clozam, Cloba

Caution: Do not change or alter the medicines without consulting your doctor
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OPIOID ANTAGONISTS

Naltrexone Naltreat, Naltrox

EUGEROICS

Modafinil Modalert, Modfil

TETRACYCLIC ANTIDEPRESSANT

Mirtazapine Mirtaz, Mirnite

ANTIVIRALS

Telaprevir Incivek, Incivo

Sofosbuvir Sovihep, My Hep

Simeprevir Olysio

Ribavirin Ribavin, Rebetol

Peginterferonalpha Pegasys, Exxura

Boceprevir Victrelis

Abacavir Abamune, A-Bec

Nevirapine Nevir, Nevimune

Caution: Do not change or alter the medicines without consulting your doctor
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ANTIMALRIALS

Chloroquine Lariago, Nivaquine

Primaquine Primaquine, Primax

Quininesulphate Quinine, Chinine

ANTIFUNGALS

Voriconazole Vorier, Voritrol

ANTIBACTERIALS

Dapsone Dapsone, Acnedap

Mafenide Sulfamylon

Nalidixicacid Ulix, Urex

Nitrofurantoin Niftran, Uribid

ANTIBIOTIC

Flucloxacillin Floxapen, Staphonex

Amikacin Mikacin, Omnikacin

Kanamycin Kanamac, Neokanyn

Tobramycin Toba, Tobacin

Caution: Do not change or alter the medicines without consulting your doctor
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ANTIBIOTIC

Erythromycin Althrocin, Erythrocin

ANTITUBERCULOSIS DRUG

Isoniazid Solonex, Lup Inh

Pyrazinamide Pyzina, P Zide

Ethambutol Combutal, Zytham

Rifampin R-Cin, Rifacept

ANTICONVULSANTS

Oxcarbazepine Oxetal, Zenoxa

Phenytoin Eptoin, Episol

Carbamezapine Carbatrol, Carbadac

Valproicacid Divuna, Convulex

Lamotrigine Lamitor, Lametec

ACETYLCHOLINESTERASE INHIBITORS

Galantamine Galamer, Razadyne

Caution: Do not change or alter the medicines without consulting your doctor
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ACETYLCHOLINESTERASE INHIBITORS

Rivastagmine Exelon, Rivamer

Memantine Admenta, Ebixa

Donepezil Donep, Donecept

URATE OXIDASES

Rasburicase Rasby, Rascas

Pegloticase Krystexxa

IMMUNOSUPRESSANTS

Etanercept Enbrel, Intacept

Methotrexate Mexate, Imutrex

Tacrolimus Tacromus, Tacros

Mycophenolate Mycept, Cellcept

Cyclosporine Cyclomune, Psorid

Siponimod Mayzent

Caution: Do not change or alter the medicines without consulting your doctor
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STEROIDS

Dexamethasone Dexona, Dexasone

Fluticasone Flutivate, Flomist

Budesonide Budecort, Budate

Triamcinolone Ledercort, Aristocort

ANTIDOTES

Sodiumnitrite Cyanide Antidote Kit,


Nithiodote

Succimer Chemet

ANTIMETABOLITES

Capecitabine Capecite, Capegard

5FU Fluracil, 5 Flucel

Mercaptopurine 6-Mp, Captomer

PLATINUM BASED CHEMOTHERAPEUTICS

Cisplatin Stiritin, Celplat

Caution: Do not change or alter the medicines without consulting your doctor
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KINASE INHIBITOR THERAPEUTICS

Dabrafenib Tafinlar

Sunitinib Rcnet, Nitnib

IMMUNOSUPPRESSANTS

Azathioprine Vaprin, Azapure

Thiopurines Puri Nethol

Cyclophosphamide Endoxan, Cycloxan

SELECTIVE ESTROGEN RECEPTOR MODULATORS

Tamoxifen Cytotam, Nolvadex

ANTHRACYCLINES

Daunorubicin Daunomycin, Daunotec

ANTINEOPLASTICS

Tegafur Teysuno, TS-1

IMMUNOMODULATORS

Caution: Do not change or alter the medicines without consulting your doctor
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IMMUNOMODULATORS

Lenalidomide Lenalid, Lenangio

NON-STEROIDAL AROMATASE INHIBITORS

Anastrozole Arimidex, Stazonex

Letrozole Letroz, Letoval

NON STEROIDAL INFLAMMATORY DRUGS

Celecoxib Zycel, Cobix

Flurbiprofen Flurbin, Flubifen

Piroxicam Dolonex, Pirox

Lornoxicam Lorsaid, Flexilor

Meloxicam Melotross, Muvera

OPIOIDS

Tramadol Tramazac, Domadol

Codeine Markodin, Codine


Sulphate

Methadone Dolophine, Metadol

Caution: Do not change or alter the medicines without consulting your doctor
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OPIOIDS

Hydrocodone Dalmacol, Dimetane

BRONCHODILATORS

Salbutamol Asthalin, Salbetol

MUSCLE RELAXANTS

Succinylcholine Scolax, Entubate

Carisoprodol Carisol, Carisoma

LAXATIVES

PEG3350 Cipeg, Looz Peg

ANALGESICS

Acetaminophen Dolo, Calpol

ANAESTHETICS

Desflurane Suprane

Enflurane Ethrane

Caution: Do not change or alter the medicines without consulting your doctor
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ANAESTHETICS

Halothane Fluothane

Isoflurane Forane, Isorane

Sevoflurane Sevorane, Sevura

ANTI-ASTHAMATIC

Salmeterol Salmeter, Serobid

ANTI HISTAMINES

Montelukast Montair, Telekast

ANTIEMETIC

Metoclopramide Perinorm, Vominorm

BISPHOSPHONATE

Alendronate Adrovance, Binosto

HEMATOLOGY

Caution: Do not change or alter the medicines without consulting your doctor
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HEMATOLOGY

Eltrombopag Promacta, Revolade

PROTON PUMP INHIBITORS

Omeprazole Omez, Oskar

Esomeprazole Sompraz, Nexpro

Lansoprazole Lanzol, Lanzoprax

Pantoprazole Pan, Pantop

Rabeprazole Rabicip, Rabeloc

Dexlansoprazole Dexlanzol, Dexolan

OTHERS

Eliglustat Cerdelga

Dextro Nuedexta

Methyleneblue Proveblue, Urolene


Blue

Tetrabenazine Revocon, Ticstop

Tolterodine Torq, Terol

Caution: Do not change or alter the medicines without consulting your doctor
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YOUR DETAILED
GENETIC REPORT

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PROPRANOLOL

ABOUT
Speciality & class: Cardiology & Beta blockers
Usage: Used in treatment of angina, hypertension, cardiac conditions & migraine.
Brands: Ciplar, Probeta, Inderal La, Albeta, Arminol, Betabloc, Betabus

HOW DOES IT WORK?


Propranolol is a non-selective first generation beta-adrenergic receptor antagonist and blocks
catecholamine-mediated sympathetic stimulation, thereby reducing blood pressure, cardiac
output and resting heart rate.

IMPACT OF GENES
The Arg16Gly polymorphism in the ADRB2 (beta-2 adrenergic receptor) gene causes inter-
individual variation in cirrhosis patients receiving propranolol treatment. The presence of the effect
allele may cause therapy failure in some patients.

YOUR GENETIC REPORT

Gene : ADRB2

Your Genotype: AG

Interpretation:
According to your genotype, there is a likelihood for slightly reduced response during propranolol
therapy - for lowering variceal pressure during liver cirrhosis. However, your physician shall decide on
the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA and EMA

REFERENCES

Kong DR, Wang JG, Sun B, et al.-2 Adrenergic receptor gene polymorphism and response to
propranolol in cirrhosis. World J Gastroenterol. 2015;21(23):7191-7196. doi:10.3748/wjg.v21.i23.7191

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 19
ATORVASTATIN

ABOUT
Speciality & class: Cardiology & Statins
Usage: Lipid lowering drug used to treat coronary heart disease.
Brands: Atocor, Lipitor, Biotor, Atorfit, Atorlip, Dyslip, Cholestat

HOW DOES IT WORK?


By selective competitive inhibition of hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase,
atorvastatin blocks the synthesis of mevalonate and thereby, helps lower LDL and VLDL (Very Low
Density Lipoprotein).

IMPACT OF GENES
A genetic variant in the Apolipoprotein E (APOE) gene is associated with LDL-cholesterol (Low
Density Lipoprotein) lowering, i.e., statin response. Individuals who carry the APOE gene variant
(rarer form) are more likely to experience clinical response to atorvastatin.

YOUR GENETIC REPORT

Gene : APOE

Your Genotype: CC

Interpretation:
This indicates that your genetic inclination of having an effective response for the drug therapy may
be reduced. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
CPIC, Swissmedic, PMDA and HCSC

REFERENCES

Thompson JF, Man M, Johnson KJ, et al. An association study of 43 SNPs in 16 candidate genes with
atorvastatin response. Pharmacogenomics J. 2005;5(6):352-358. doi:10.1038/sj.tpj.6500328

Caution: Do not change or alter the medicines without consulting your doctor
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ISOSORBIDE AND HYDRALAZINE (BIDIL)

ABOUT
Speciality & class: Cardiology & Vasolidators
Usage: Used as an adjunct in the treatment of heart failure and hypertension.
Brands: Sorbitrate Hf, Isolazine, Nitrohart, Apresol Plus, Bidil

HOW DOES IT WORK?


Hydralazine is an effective vasodilator which can suppress free radical production(antioxidant) and
help lower blood pressure. It is used in combination with isosorbide dinitrate, which aids in dilation
of blood vessels, by allowing them to relax and widen, for an increased supply of blood to the heart.

IMPACT OF GENES
N-acetyl transferase 2 (NAT2) is an important enzyme involved in xenobiotic- and drugrelated
metabolic reactions. Individuals carrying at least two slow-acetylator variants in the NAT2 gene are
classified slow acetylators, and may be exposed to elevated plasma drug concentrations, due to
reduced drug clearance. Some studies have reported a link between slow acetylators and drug-
induced adverse effects. On the other hand, fast or rapid acetylators are more likely to require
higher drug doses due to possible therapy failure, due to rapid metabolism and subtherapeutic
plasma concentrations.

YOUR GENETIC REPORT

Gene : NAT2

Your Genotype: CC_CC

Interpretation:
According to your genotypes, the drug may be metabolized very slowly and result in increased plasma
concentrations. This can cause adverse reactions, due to toxicity. However, your physician shall decide
on the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA

REFERENCES

McDonagh EM, Boukouvala S, Aklillu E, Hein DW, Altman RB, Klein TE. PharmGKB summary: very
important pharmacogene information for N-acetyltransferase 2. Pharmacogenet Genomics. 2014;
24(8):409-425. doi:10.1097/FPC.0000000000000062

Caution: Do not change or alter the medicines without consulting your doctor
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TICAGRELOR

ABOUT
Speciality & class: Cardiology & Antiplatelet (Platelet aggregation inhibitors)
Usage: Used for the prevention of heart attack and stroke and to reduce the risk of
thrombotic cardiovascular events in unstable angina or myocardial infarction.
Brands: Brilinta, Axcer, Ticagold, Tigemac

HOW DOES IT WORK?


Ticagrelor is an anti-platelet drug that inhibits platelet aggregation by P2Y12 receptor antagonist
activity and thereby prevents blood clot formation in the body. It hinders the narrowing of blood
vessels and maintains the easy flow of blood in the body. It decreases the risk of heart disorders
and strokes primarily in patients who have incurred a cardiovascular attack.

IMPACT OF GENES
Genetic elements significantly determine the response of patients to the drug. People with
specific marker in their genotype are unable to metabolize the drug efficiently. Hence, the drug is
accumulated in the muscles leading to muscle toxicity or myopathy. SLCO1B1 gene encodes the
protein OATP1B1, which is associated with hepatic uptake of the drug. Variation in gene sequence
of SLCO1B1 impairs the normal function of the encoded protein, altering the plasma concentration
of statins and increasing related muscle damage.

YOUR GENETIC REPORT

Gene : SLCO1B1

Your Genotype: AG

Interpretation:
According to your genotype, you may have increased concentrations of ticagrelor . However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA and EMA

REFERENCES

Varenhorst C, Eriksson N, Johansson A, et al. Effect of genetic variations on ticagrelor plasma levels
and clinical outcomes. Eur Heart J. 2015;36(29):1901-1912. doi:10.1093/eurheartj/ehv116

Caution: Do not change or alter the medicines without consulting your doctor
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HYDROCHLOROTHIAZIDE

ABOUT
Speciality & class: Cardiology & Antihypertensive
Usage: Used to treat edema associated with heart, liver, kidney or lung disease and
hypertension.
Brands: Aquazide, Hydrazide, Hydride, Thiazide

HOW DOES IT WORK?


Hydrochlorothiazide prevents the reabsorption of sodium and water from the distal convoluted
tubule, allowing for the increased elimination of water in the urine, which decreased blood
pressure and also fluid overload.

IMPACT OF GENES
The ACE gene encodes for making the angiotensin-converting enzyme which has the ability to
cleave (cut) proteins. It is a component of the renin-angiotensin system, which controls blood
pressure and salt and fluid balance of body. It converts angiotensin I to angiotensin II which causes
blood vessels to narrow which results in increased blood pressure.

YOUR GENETIC REPORT

Gene : ADD1

Your Genotype: TG

Interpretation:
According to your genotype, you may have slightly high genetic risk for decreased response of the
drug. However, your physician shall decide on the drug and the dose depending on other clinical
factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Choi HD, Suh JH, Lee JY, et al. Effects of ACE and ADD1 gene polymorphisms on blood pressure
response to hydrochlorothiazide: a meta-analysis. Int J Clin Pharmacol Ther. 2013;51(9):718-724. doi:
10.5414/CP201899

Caution: Do not change or alter the medicines without consulting your doctor
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GLIPIZIDE

ABOUT
Speciality & class: Diabetology & Sulfonylurea Antidiabetics
Usage: Antihyperglycemic agent used in the treatment of Type 2 Diabetes.
Brands: Diaglip, Glyzip, Glynase, Glycind, Glydal, Glucotrol, Gluconil

HOW DOES IT WORK?


Glipizide is a second-generation sulfonylurea which acts as an insulin secretagogue. The drug
binds to the potassium-channel receptors and depolarizes the cell membrane. This results in
increased calcium ion influx, and subsequent secretion of insulin by the pancreatic cells, i.e,
enhanced exocytosis.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to monitored regularly, via complete blood count tests.
The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential hazard
of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants, antimalarials,
etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA and CPIC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
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GLIMEPERIDE

ABOUT
Speciality & class: Diabetology & Sulfonylurea Antidiabetics
Usage: Antihyperglycemic agent used in the treatment of Type 2 Diabetes.
Brands: Glimestar, Glimy, Glimiprex, Glypride, Euglim

HOW DOES IT WORK?


Glimeperide is a second-generation sulfonylurea which acts as an insulin secretagogue. The drug
binds to the potassium-channel receptors and depolarizes the cell membrane. This results in
increased calcium ion influx, and subsequent secretion of insulin by the pancreatic cells.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to monitored regularly, via complete blood count tests.
The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential hazard
of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants, antimalarials,
etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, EMA, Swissmedic and HCSC

REFERENCES

McDonagh EM, Thorn CF, Bautista JM, Youngster I, Altman RB, Klein TE. PharmGKB summary: very
important pharmacogene information for G6PD. Pharmacogenet Genomics. 2012;22(3):219-228. doi:
10.1097/FPC.0b013e32834eb313

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 25
CHLORPROMAZINE

ABOUT
Speciality & class: Psychiatry & antipsychotics (Phenothiazine antipsychotics)
Usage: Used to treat nausea, vomiting, pre-operative anxiety, schizophrenia, bipolar
disorder and ADHD.
Brands: Chlorpromazine, Chlorotame, Largactil, Clozine

HOW DOES IT WORK?


Chlorpromazine is a typical antipsychotic that belongs to the first-generation antipsychotic class of
drugs. It acts by blocking dopamine D2 receptors which produce an antipsychotic effect. It also
shows antiemetic through blocking of histamine H1, dopamine D2, and muscarinic M1 receptors.

IMPACT OF GENES
The EPM2A gene encodes for a protein called laforin. Although this protein is active in cells
throughout the body, it appears to play a critical role in the survival of neurons and is involved in
regulating brain homeostasis, particularly concerning glycogen metabolism. Polymorphisms in
this gene may gives rise to the accumulation of Lafora bodies, which consist of an unmetabolized
form of glycogen, polyglucosans, which is associated with progressive neurological deterioration.

YOUR GENETIC REPORT

Gene : EPM2A

Your Genotype: TC

Interpretation:
According to your genotype, you may have slightly decreased response to the drug. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
Literature

REFERENCES

Porcelli S, Balzarro B, Lee SJ, et al. PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-
Control and Pharmacogenetics Study. Neuropsychobiology. 2016;73(3):160-168. doi:10.1159
/000445295

Caution: Do not change or alter the medicines without consulting your doctor
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LURASIDONE

ABOUT
Speciality & class: Psychiatry & Antipsychotics
Usage: Used to treat schizophrenia and depressive episodes associated with bipolar
disorder.
Brands: Latuda, Luramax, Lurasid, Altura, Lurafic

HOW DOES IT WORK?


It is an atypical antipsychotic which acts as a serotonin and dopamine antagonist. The antagonism
of serotonin receptors can improve negative symptoms of psychoses and reduce the
extrapyramidal side effects that are often associated with typical antipsychotics.

IMPACT OF GENES
A functional HTR1A polymorphism, is associated with mood disorders and schizophrenia, Selective
Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and Signal Transduction pathway are
some of the patways associated with HTR1A. Genetic variants in this gene may affect these
pathways.

YOUR GENETIC REPORT

Gene : HTR1A

Your Genotype: GC

Interpretation:
This indicates that your genetic inclination of having an effective response for the drug therapy may
be slightly high. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Yoshikawa A, Li J, Meltzer HY. A functional HTR1A polymorphism, rs6295, predicts short-term


response to lurasidone: confirmation with meta-analysis of other antipsychotic drugs.
Pharmacogenomics J. 2020;20(2):260-270. doi:10.1038/s41397-019-0101-5

Caution: Do not change or alter the medicines without consulting your doctor
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AMISULPURIDE

ABOUT
Speciality & class: Psychiatry & Antipsychotics (Second generation atypical antipsychotics)
Usage: Used in the treatment of acute and chronic schizophrenia, and in the
prevention and treatment of postoperative nausea and vomiting in adults.
Brands: Cizorest, Sulpitac, Soltus, Amisant

HOW DOES IT WORK?


Amisulpride is an atypical antipsychotic agent that works as a selective dopamine D2 and D3
receptor antagonist with no affinity towards other dopamine receptor subtypes, it is less likely to
be associated with extrapyramidal adverse effects than other atypical antipsychotic agents. It also
acts as an antiemetic agent which prevents and alleviates postoperative nausea and vomiting
through dopamine receptor blocking action.

IMPACT OF GENES
MC4R gene encodes the MC4 protein, a G protein-coupled receptor that binds alpha-melanocyte
stimulating hormone (a-MSH). This protein is expressed in several areas of the brain, including the
paraventricular nucleus of the hypothalamus, which has an essential role in energy homeostasis.
Activation of MC4R by a-MSH increases the satiety signal and suppresses food intake, regulating
energy balance and body weight.

YOUR GENETIC REPORT

Gene : MC4R

Your Genotype: AC

Interpretation:
According to your genotype, you may be at a slightly high risk of experiencing side effects like weight
gain and hypertriglyceridemia, when treated with drug. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Malhotra AK, Correll CU, Chowdhury NI, et al. Association between common variants near the
melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain. Arch Gen
Psychiatry. 2012;69(9):904-912. doi:10.1001/archgenpsychiatry.2012.191

Caution: Do not change or alter the medicines without consulting your doctor
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PALIPERIDONE

ABOUT
Speciality & class: Psychiatry & Antipsychotics (Second generation atypical antipsychotics)
Usage: Used in the treatment of schizophrenia and other schizoaffective or delusional
disorders.
Brands: Invega, Invega Hafyera, Xeplion

HOW DOES IT WORK?


Paliperidone is the primary active metabolite of risperidone. It is a second-generation
antipsychotic (atypical antipsychotic), which acts as serotonin and dopamine antagonist.
Dopamine activity is higher in individuals on atypical antipsychotics. A study of drug effects in
elderly patients administered with antipsychotics proved that atypical antipsychotic drugs are
associated with a lower risk for certain side effects, due to a slightly peculiar mechanism. This is
because dopamine neurotransmission is not compromised, which reduces the probability of
motor and cognitive impairment.

IMPACT OF GENES
MC4R gene encodes the MC4 protein, a G protein-coupled receptor that binds alpha-melanocyte
stimulating hormone (a-MSH). This protein is expressed in several areas of the brain, including the
paraventricular nucleus of the hypothalamus, which has an essential role in energy homeostasis.
Activation of MC4R by a-MSH increases the satiety signal and suppresses food intake, regulating
energy balance and body weight.

YOUR GENETIC REPORT

Gene : MC4R

Your Genotype: TC

Interpretation:
According to your genotype, you may be at a slightly high risk of experiencing weight gain when
treated with drug. Other genetic and clinical factors may also influence risk of experiencing weight
gain when treated with drug. However, your physician shall decide on the drug and the dose
depending on other clinical factors or medications you might be taking.
Evidence:
FDA, EMA, Swissmedic and HCSC

REFERENCES

Czerwensky F, Leucht S, Steimer W. MC4R rs489693: a clinical risk factor for second generation
antipsychotic-related weight gain?. Int J Neuropsychopharmacol. 2013;16(9):2103-2109. doi:10.1017
/S1461145713000849

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 29
QUETIAPINE

ABOUT
Speciality & class: Psychiatry & Antipsychotics (Second generation atypical antipsychotics)
Usage: Used for the management of bipolar disorder, schizophrenia and major
depressive disorder.
Brands: Quel, Q-mind, Seroquin, Adequet, Qutipin

HOW DOES IT WORK?


Quetiapine is a second-generation antipsychotic (atypical antipsychotic), which acts as serotonin
and dopamine antagonist. Dopamine activity is higher in individuals on atypical antipsychotics. A
study of drug effects in elderly patients administered with antipsychotics proved that atypical
antipsychotic drugs are associated with a lower risk for certain side effects, due to a slightly
peculiar mechanism. This is because dopamine neurotransmission is not compromised, which
reduces the probability of motor and cognitive impairment.

IMPACT OF GENES
MC4R gene encodes the MC4 protein, a G protein-coupled receptor that binds alpha-melanocyte
stimulating hormone (a-MSH). This protein is expressed in several areas of the brain, including the
paraventricular nucleus of the hypothalamus, which has an essential role in energy homeostasis.
Activation of MC4R by a-MSH increases the satiety signal and suppresses food intake, regulating
energy balance and body weight.

YOUR GENETIC REPORT

Gene : MC4R

Your Genotype: TC

Interpretation:
According to your genotype, you may be at a slightly high risk of experiencing weight gain when
treated with drug. Other genetic and clinical factors may also influence risk of experiencing weight
gain when treated with drug. However, your physician shall decide on the drug and the dose
depending on other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Czerwensky F, Leucht S, Steimer W. MC4R rs489693: a clinical risk factor for second generation
antipsychotic-related weight gain?. Int J Neuropsychopharmacol. 2013;16(9):2103-2109. doi:10.1017
/S1461145713000849

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 30
TRIFLUOPERAZINE

ABOUT
Speciality & class: Psychiatry & antipsychotics (typical antipsychotics)
Usage: Used to treat depression, anxiety and schizophrenia.
Brands: Espazine, Talecalm, Trazine, Elicalm

HOW DOES IT WORK?


Trifluoperazine acts by blocking postsynaptic dopaminergic D1 and D2 receptors in the brain; It
works by blocking the action of dopamine in the mesocortical and mesolimbic pathways, a
chemical messenger in the brain that affects thoughts and mood.

IMPACT OF GENES
The EPM2A gene encodes for a protein called laforin. Although this protein is active in cells
throughout the body, it appears to play a critical role in the survival of neurons and is involved in
regulating brain homeostasis, particularly concerning glycogen metabolism. Polymorphisms in
this gene may gives rise to the accumulation of Lafora bodies, which consist of an unmetabolized
form of glycogen, polyglucosans, which is associated with progressive neurological deterioration.

YOUR GENETIC REPORT

Gene : EPM2A

Your Genotype: TC

Interpretation:
According to your genotype, you may have slightly decreased response towards the drug. However,
your physician shall decide on the drug and the dose depending on other clinical factors or
medications you might be taking.
Evidence:
Literature

REFERENCES

Porcelli S, Balzarro B, Lee SJ, et al. PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-
Control and Pharmacogenetics Study. Neuropsychobiology. 2016;73(3):160-168. doi:10.1159
/000445295

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 31
FLUOXETINE

ABOUT
Speciality & class: Psychiatry & Antidepressant (Selective serotonin reuptake inhibitor)
Usage: Used to treat major depressive disorder, obsessive-compulsive disorder,
bulimia nervosa, bipolar and panic disorder
Brands: Flunil, Fluxain, Zedep, Vibodep

HOW DOES IT WORK?


Serotonin is a neurotransmitter also known as 5-hydroxytryptamine (5-HT). Fluoxetine inhibits the
uptake of 5-HT into presynaptic cells of neurons. The drug has high affinity for 5-HT transporters
and desensitizes the feedback loop for neurotransmission. Thus, the extracellular concentration of
5-HT is increased, resulting in elevated serotonergic activity.

IMPACT OF GENES
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-
binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and
intra-cellular membranes. Polymorphisms in ABCB1 might be associated with Fluoxetine
treatment responses.

YOUR GENETIC REPORT

Gene : ABCB1

Your Genotype: TT

Interpretation:
According to your genotype, you may have a decreased likelihood of remission as compared to
patients other genotypes. Other genetic and clinical factors may also influence a patient's response to
antidepressants. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
FDA and Swissmedic

REFERENCES

Uhr M, Tontsch A, Namendorf C, et al. Polymorphisms in the drug transporter gene ABCB1 predict
antidepressant treatment response in depression. Neuron. 2008;57(2):203-209. doi:10.1016/j.neuron.
2007.11.017

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 32
SERTRALINE

ABOUT
Speciality & class: Psychiatry & Selective Serotonin Reuptake Inhibitors
Usage: Antidepressant used in the treatment of obsessive-compulsive disorder (OCD),
depression, anxiety- and mood-related disorders such as post-traumatic stress
disorder (PTSD), panic attacks, premenstrual syndrome, etc.
Brands: Zosert, Daxid, Asert, Zoloft, Xsert, Setraline, Setalin

HOW DOES IT WORK?


Serotonin is an important neurotransmitter also known as 5-hydroxytryptamine (5-HT). Sertraline is
a Selective Serotonin Reuptake Inhibitor (SSRI), which primarily functions by inhibiting the uptake
of 5-HT into the presynaptic cells of neurons. The drug compound has high affinity for 5-HT
transporters and desensitizes the feedback loop for neurotransmission. Thus, the extracellular
concentration of 5-HT is increased, resulting in elevated serotonergic activity.

IMPACT OF GENES
According to some studies, 50-60% of patients do not find SSRI treatment effective, because of
genetic and non-genetic factors (eg., stress). Sertraline is metabolized by the CYP2C19 and CYP2D6
enzymes. Genetic variation in CYP2C19 influences drug response as well as risk for adverse effects.
Ultrarapid CYP2C19 metabolizers who are homozygous for the *17 allele, display very low
circulating drug concentrations, and may require alternate drug (which is not metabolized by
CYP2C19 and does not inhibit CYP2D6). These individuals are at risk for failed therapy. According to
the U.S Food and Drug Administration, CYP2C19 poor metabolizers (2-15% of patients) may require
a drastic dose reduction (~50%), to avoid adverse events.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotypes, the drug may be metabolized too quickly and affect clinical response,
due to subtherapeutic plasma drug concentrations. Alternate therapy may be required. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
CPIC

REFERENCES

Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake
Inhibitors. Clin Pharmacol Ther. 2015;98(2):127-134. doi:10.1002/cpt.147

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 33
CITALOPRAM

ABOUT
Speciality & class: Psychiatry & Selective Serotonin Reuptake Inhibitors
Usage: Antidepressant used in the treatment of obsessive-compulsive disorder (OCD),
depression, anxiety- and mood-related disorders such as post-traumatic stress
disorder (PTSD).
Brands: Citopam, Ciprexa, Celexa, C-Pram, Celica, Citadep, Feliz

HOW DOES IT WORK?


Serotonin is an important neurotransmitter also known as 5-hydroxytryptamine (5-HT). Citalopram
is a Selective Serotonin Reuptake Inhibitor (SSRI), which primarily functions by inhibiting the
uptake of 5-HT into the presynaptic cells of neurons. The drug compound has high affinity for 5-HT
transporters and desensitizes the feedback loop for neurotransmission. Thus, the extracellular
concentration of 5-HT is increased, resulting in elevated serotonergic activity.

IMPACT OF GENES
According to some studies, 50-60% of patients do not find SSRI treatment effective, because of
genetic and non-genetic factors (eg., stress). Citalopram, and its active form (S-enantiomer known
as escitalopram), are metabolized by the CYP2C19 enzyme. Genetic variation in CYP2C19 influences
drug response as well as risk for adverse effects. Ultrarapid CYP2C19 metabolizers who are
homozygous for the *17 allele, display very low circulating drug concentrations, and may require
alternate drug (which is not metabolized by CYP2C19 and does not inhibit CYP2D6). These
individuals are at risk for failed therapy. According to the U.S Food and Drug Administration,
CYP2C19 poor metabolizers (2-15% of patients) may require a drastic dose reduction (~50%), to
avoid adverse events such as cardiac arrhythmia.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotypes, the drug may be metabolized too quickly and affect clinical response,
due to subtherapeutic plasma drug concentrations. Alternate therapy may be required. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC, Swissmedic and HCSC

REFERENCES

Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake
Inhibitors. Clin Pharmacol Ther. 2015;98(2):127-134. doi:10.1002/cpt.147

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 34
ESCITALOPRAM

ABOUT
Speciality & class: Psychiatry & Selective Serotonin Reuptake Inhibitors
Usage: Antidepressant used in the treatment of obsessive-compulsive disorder (OCD),
depression, anxiety- and mood-related disorders such as post-traumatic stress
disorder (PTSD).
Brands: Cipralex, Alwel, Articalm, Ecitalop, Szetalo, Alivate, Stalopam, Ezeepam, Nexito,
Esdep, Escitapax

HOW DOES IT WORK?


Serotonin is an important neurotransmitter also known as 5-hydroxytryptamine (5-HT).
Escitalopram is a Selective Serotonin Reuptake Inhibitor (SSRI), which primarily functions by
inhibiting the uptake of 5-HT into the presynaptic cells of neurons. The drug compound has high
affinity for 5-HT transporters and desensitizes the feedback loop for neurotransmission. Thus, the
extracellular concentration of 5-HT is increased, resulting in elevated serotonergic activity.

IMPACT OF GENES
According to some studies, 50-60% of patients do not find SSRI treatment effective, because of
genetic and non-genetic factors (eg., stress). Citalopram, and its active form (S-enantiomer known
as escitalopram), are metabolized by the CYP2C19 enzyme. Genetic variation in CYP2C19 influences
drug response as well as risk for adverse effects. Ultrarapid CYP2C19 metabolizers who are
homozygous for the *17 allele, display very low circulating drug concentrations, and may require
alternate drug (which is not metabolized by CYP2C19 and does not inhibit CYP2D6). These
individuals are at risk for failed therapy. According to the U.S Food and Drug Administration,
CYP2C19 poor metabolizers (2-15% of patients) may require a drastic dose reduction (~50%), to
avoid adverse events such as cardiac arrhythmia.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotypes, the drug may be metabolized too quickly and affect clinical response,
due to subtherapeutic plasma drug concentrations. Alternate therapy may be required. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA

REFERENCES

Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake
Inhibitors. Clin Pharmacol Ther. 2015;98(2):127-134. doi:10.1002/cpt.147
Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 35
CLOMIPRAMINE

ABOUT
Speciality & class: Psychiatry & Tricyclic Antidepressants
Usage: Antidepressants prescribed for pain management during migraine (interval
therapy), depression, obsessive-compulsive disorder (OCD).
Brands: Clomistar, Clomidep, Clofranil, Clomifril, Anafranil, Clomip, Ocifril, Syconil

HOW DOES IT WORK?


Clomipramine is a tertiary amine Tricyclic Antidepressant. It targets serotonin and norepinephrine
receptors in the presynaptic terminal, and inhibits chemical reuptake (dopamine levels are usually
not affected by TCAs). This mechanism is responsible for modulating pain in migraine prophylaxis,
and the management of psychiatric symptoms such as manic depression.

IMPACT OF GENES
Tricyclic Antidepressants (TCAs) are metabolized by the CYP2D6 and CYP2C19 enzymes of the
cytochrome p450 family of proteins. Poor metabolizers (reduced cytochrome enzyme activity) are
at risk for adverse effects, due to elevated plasma drug concentrations. Ultra metabolizers (greater
cytochrome enzyme activity) may experience failure in treatment (due to subtherapeutic drug
concentrations). Genetic analysis of the CYP2D6 and CYP2C19 markers is used to determine
metabolizer status of an individual and thereby, preferred range of dosing. However, there is
limited data on combinatorial phenotypes (from CYP2D6 and CYP2C19 genotypes). Intermediate
(1-13% of patients) and poor metabolizers (1-10% of patients) may be prescribed a lowered dose of
the TCA. In some cases, an alternate antidepressant (not metabolized by CYP2D6 or CYP2C19) may
be prescribed by the physician. In case of no alternative, stringent monitoring of patient response
to the TCA is essential, after a reduced dose of the same drug.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized too quickly and affect clinical response,
due to subtherapeutic plasma drug concentrations. Alternate therapy may be required. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA,CPIC and Swissmedic

REFERENCES

Hicks JK, Sangkuhl K, Swen JJ, et al. Clinical pharmacogenetics implementation consortium
guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016
update. Clin Pharmacol Ther. 2017;102(1):37-44. doi:10.1002/cpt.597

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 36
NALTREXONE

ABOUT
Speciality & class: Psychiatry & Opioid Antagonists
Usage: Opioid antagonist for the management of substance abuse disorders.
Brands: Naltreat, Naltrox, Gigadict, Nodict, Naltima, Naltrex, Revia, Contrave, Vivitrol

HOW DOES IT WORK?


Naltrexone reduces addiction of an individual to alcohol or opioids, by minimizing the reward
sensation experienced when consuming these substances. The drug targets mu-opioid receptors,
effectively blocking their association with regular agonists. Thus, the body does not respond to the
opioid substance, due to competitive binding and reduced availability of opioid receptors in the
brain. In the absence of euphoria, individuals have reduced cravings.

IMPACT OF GENES
A certain polymorphism in the Mu-opioid receptor (OPRM1) gene enhances an individual's
likelihood of successful therapy with naltrexone. Presence of the variant is associated with reduced
cravings, lesser withdrawal symptoms and an increased period of abstinence. Asians have a
greater frequency for this gene variant, when compared with other populations. The same variant
is linked with alcoholism risk.

YOUR GENETIC REPORT

Gene : OPRM1

Your Genotype: AA

Interpretation:
According to your genotypes, this drug may be activated to a lesser extent and therapy could be less
effective on you. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
CPIC

REFERENCES

Chamorro AJ, Marcos M, Mirón-Canelo JA, Pastor I, González-Sarmiento R, Laso FJ.


Association of µ-opioid receptor (OPRM1) gene polymorphism with response to naltrexone in
alcohol dependence: a systematic review and meta-analysis. Addict Biol. 2012;17(3):505-512. doi:10.1111
/j.1369-1600.2012.00442.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 37
MODAFINIL

ABOUT
Speciality & class: Psychiatry & Eugeroics
Usage: Antinarcoleptic agent used to manage sleep disorders
Brands: Modalert, Modfil, Provigil, Provake, Modatec, Modapro

HOW DOES IT WORK?


Modafinil is an atypical psychostimulant which elevates dopaminergic transmission in the brain. It
helps elevate cognitive skills, memory and wakefulness in the central nervous system.

IMPACT OF GENES
The Val158Met polymorphism in the COMT gene is linked with cognitive behavior, sleep pattern,
pain threshold and memory. Interindividual differences in brain activity during situations of high
anxiety, stress and aversive stimuli can be explained by such genetic variation. Homozygous
carriers of the Met allele (AA genotype) respond poorly to modafinil. This is due to a G to A
substitution in the COMT gene sequence, which results is 35% lesser enzyme activity in the brain.

YOUR GENETIC REPORT

Gene : COMT

Your Genotype: AA

Interpretation:
According to your genotype, you have two copies of the genetic variant which affects Modafinil
response and hence standard therapy may not be effective. However, your physician shall decide on
the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA

REFERENCES

Heinzerling KG, McCracken JT, Swanson AN, Ray LA, Shoptaw SJ. COMT Val158Met, BDNF Val66Met,
and OPRM1 Asn40Asp and methamphetamine dependence treatment response: preliminary
investigation. J Clin Psychopharmacol. 2012;32(1):135-137. doi:10.1097/JCP.0b013e318240a48e

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 38
MIRTAZAPINE

ABOUT
Speciality & class: Psychiatry & Antidepressant (Tetracyclic antidepressant)
Usage: Used in the treatment of major depression
Brands: Mirtaz, Mirnite, Mirtakem, Mirtadep

HOW DOES IT WORK?


Mirtazapine belongs to the Tetracyclic antidepressant group of drugs that inhibits the central
presynaptic alpha-2-adrenergic receptors, which causes an increased release of serotonin and
norepinephrine. It is also sometimes a noradrenergic and specific serotonergic antidepressant and
also acts as a potent antagonist of H1 histamine receptors and 5-HT2A, 5-HT2C, and 5-HT3
serotonin receptors all of which exert an antidepressant effect.

IMPACT OF GENES
Mirtazapine is metabolized by the CYP2D6 enzyme of the cytochrome p450 family of proteins.
Genetic analysis of the CYP2D6 markers is used to determine metabolizer status and thereby,
preferred range of dosing.

YOUR GENETIC REPORT

Gene : RABEP1

Your Genotype: AG

Interpretation:
According to your genotype, you may have increased levels of fasting glucose. However, your physician
shall decide on the drug and the dose depending on other clinical factors or medications you might
be taking.
Evidence:
Literature

REFERENCES

Delacretaz A, Zdralovic A, Vandenberghe F, et al. Association of variants in SH2B1 and RABEP1 with
worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic
drugs. Gene. 2017;628:8-15. doi:10.1016/j.gene.2017.07.005

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 39
METHYLENEBLUE

ABOUT
Speciality & class: Others & Antidotes
Usage: Treatment of drug-induced encephalopathy, malaria and as an antidote.
Brands: Proveblue, Urolene Blue, Provayblue, Uro Blue

HOW DOES IT WORK?


Methylene blue is an aromatic dye used for multiple purposes in medicine, due its prooxidant and
antioxidant activity. By acting as an electron acceptor, it causes a reduction in methemoglobin,
which is required for the treatment of methemoglobinemia. By acting as an electron acceptor, it
helps in reducing buildup of chloroacetaldehyde during encephalopathy. The compound can also
be used to treat cyanide poisoning, due to its ability to mediate mitochondrial chemical reactions,
which need electron transfer.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, EMA and PMDA

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 40
ABACAVIR

ABOUT
Speciality & class: Infectious Disease & Antivirals
Usage: Treatment of HIV infection.
Brands: Abamune, A-Bec, Virol, Ziagen

HOW DOES IT WORK?


The drug is a synthetic nucleoside and is phosphorylated to form an analog of guanine. It inhibits
the viral DNA synthesis and thereby combats the viral replication in human body. Abacavir is
generally prescribed in combination with other drugs to treat HIV.

IMPACT OF GENES
HLA-B gene plays a role in presenting the antigen to the immune system. Variations in this gene
trigger severe HSR in the mutants (HLA-B*5701). Southwest Asians, particularly Indians have the
highest prevalence rate of HLA-B*5701 of up to 20% of population. Up to 8% of patients taking
abacavir experience hypersensitive reaction if genetic pre- screening is not performed. Therefore,
genetic pre-screening of HLA-B*5701 variant is recommended by the United States Food and Drug
Administration (FDA) before starting or re-starting the drug therapy in patients.

YOUR GENETIC REPORT

Gene : HLA-B*5701

Your Genotype: TG

Interpretation:
This indicates that you may be genetically susceptible for developing drug induced hypersensitive
reaction. Hence you may be given an alternate therapy. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC, EMA, Swissmedic, PMDA and HCSC

REFERENCES

Berka N, Gill JM, Liacini A, O'Bryan T, Khan FM. Human leukocyte antigen (HLA) and
pharmacogenetics: screening for HLA-B*57:01 among human immunodeficiency virus-positive
patients from southern Alberta. Hum Immunol. 2012;73(2):164-167. doi:10.1016/j.humimm.2011.12.002

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 41
CHLOROQUINE

ABOUT
Speciality & class: Infectious Disease & Antimalarials
Usage: Used in the prevention and treatment of acute parasitic infection.
Brands: Lariago, Nivaquine, Chloroquine, Emquin, Aralen, Malarex, C-Quine

HOW DOES IT WORK?


Chloroquine is an aminoquinoline which binds to heme and forms a stable complex. This is a key
event in the treatment of malaria. Due to its alkaline nature, the drug compound enters the acidic
food vacuoles of the parasitic cells and interferes with heme polymerase. Hence, heme cannot be
converted into its non-toxic version, hemazoin. Thus, excess heme builds up inside the parasite,
resulting in toxicity and ultimately, cell death.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC and Swissmedic

REFERENCES

Fanello CI, Karema C, Avellino P, et al. High risk of severe anaemia after chlorproguanil-
dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. PLoS One. 2008;
3(12):e4031. doi:10.1371/journal.pone.0004031

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 42
PRIMAQUINE

ABOUT
Speciality & class: Infectious Disease & Antimalarials
Usage: Antimalarial drug used for the radical cure of Plasmodium vivax and ovale.
Brands: Primaquine, Primax, Primacip, Tpquin, Primal, Malirid, Cerviprime

HOW DOES IT WORK?


Primaquine is an aminoquinoline which specifically targets the dormant parasitic form ,i.e.,
hypnozoites of P.vivax and P.ovale forms and inhibits the production of erythrocytic forms of the
parasite. This is the only antimalarial agent with this degree of specificity, which makes it the best
choice for preventing relapse. It is also effective against gametocytes of all Plasmodium parasites.
However, since the drug cannot affect asexual parasites, it is usually co-administered along with
other agents such as chloroquine.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 43
QUININESULPHATE

ABOUT
Speciality & class: Infectious Disease & Antimalarials
Usage: An antibiotic drug for treating bacterial infections.
Brands: Quinine, Chinine, Cinkona, Mosgard, Q-9, Quinlup, Nine, Zequin

HOW DOES IT WORK?


Flucloxacillin is a penicillin class antibiotic commonly preferred to fight staphylococcal and other
gram positive bacterial infections (streptococci, pneumococci). It is also effective against some
strains of gram negative aerobic or anaerobic bacteria. It is generally prescribed to treat bacterial
infections of the skin, urinary tract, respiratory tract, enteritis and other tissues.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, Swissmedic and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 44
VORICONAZOLE

ABOUT
Speciality & class: Infectious Disease & Antifungals
Usage: Antifungal agent used in the treatment of aspergillosis.
Brands: Vorier, Voritrol, Vorizole, Voraze, Verz, Vosicaz, Vfend

HOW DOES IT WORK?


Voriconazole is a triazole compound which inhibits the CYP450-dependent 14-alpha sterol
demethylase enzyme. This blocks the biosynthesis of the essential fungal cell wall component,
ergosterol. Further growth and spread of fungal infection is thus mitigated.

IMPACT OF GENES
Genetic variation in CYP2C19 influences drug response as well as risk for adverse effects.
Individuals who carry two no-function alleles display greater plasma drug concentrations.
According to the U.S Food and Drug Administration, CYP2C19 poor metabolizers (2-15% of patients)
may require an alternate drug.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotypes, the drug may be metabolized too quickly and affect clinical response,
due to subtherapeutic plasma drug concentrations. Alternate therapy may be required. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC, EMA, Swissmedic, PMDA and HCSC

REFERENCES

Moriyama B, Obeng AO, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium


(CPIC) Guidelines for CYP2C19 and Voriconazole Therapy [published correction appears in Clin
Pharmacol Ther. 2018 Feb;103(2):349]. Clin Pharmacol Ther. 2017;102(1):45-51. doi:10.1002/cpt.583

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 45
DAPSONE

ABOUT
Speciality & class: Infectious Disease & Antibacterials
Usage: Treatment of leprosy, skin infection, burns, wounds, etc
Brands: Dapsone, Acnedap, Acnesone, Aczone, Udolac, Tarimyl, Sulfona

HOW DOES IT WORK?


Dapsone is a synthetic sulfone which has antimycobacterial and antiprotozoal activity. It is one of
the principal agents for the treatment of leprosy. It is also effective against bacteria such as
streptococci, staphylococci and pneumococci. By mimicking sulfonamides and competitively
binding to dihydropteroate synthetase (enzyme), the drug stops the synthesis of dihydrofolate by
the microbes, thereby suppressing their growth. The drug plays a dual role by exerting anti
inflammatory effect.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC, PMDA and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 46
MAFENIDE

ABOUT
Speciality & class: Infectious Disease & Antibacterials
Usage: Treatment of skin infection, burns, wounds, etc.
Brands: Sulfamylon

HOW DOES IT WORK?


Mafenide is a sulphonamide which acts against Pseudomonas, Clostridia and Enterococcus
species of bacteria. This drug is an excellent topical antibiotic which can inhibit bacterial
proliferation, even below the burn eschar. This drug also possesses antifungal properties, but to a
lesser extent, when compared with this efficacy against resistant bacteria.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 47
NALIDIXIC ACID

ABOUT
Speciality & class: Infectious Disease & Antibacterials
Usage: Antibacterial agent used in the treatment of urinary tract infections.
Brands: Ulix, Urex, Negamet, Nal-P, Wintron, Uronidix, Gramoneg, Dix, Negadix

HOW DOES IT WORK?


Nalidixic acid is a synthetic quinolone which blocks the enzymatic activity of bacterial DNA gyrase
in species such as E. Coli, Enterobacter, Klebsiella, and Proteus. It reversibly binds to DNA and stops
further production of proteins. However, the drug has limited bactericidal spectrum.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA and PMDA

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 48
NITROFURANTOIN

ABOUT
Speciality & class: Infectious Disease & Antibacterials
Usage: Antibacterial agent used in the treatment of urinary tract infections.
Brands: Niftran, Uribid, Nitfur, Urifast, Niftas, Martifur, Urinif

HOW DOES IT WORK?


Nitrofurantoin is used against different bacteria such as S. aureus, S. epidermidis, S. saprophyticus,
Enterococcus faecalis, S. agalactiae, group D streptococci, viridians streptococci, Corynebacterium,
E. coli, Enterobacter, Neisseria, Salmonella and Shigella. The drug is also effective against
vancomycin-sensitive and vancomycin-resistant enterococci. Nitrofurantoin exerts bacteriostatic
and bactericidal effect by blocking the synthesis of bacterial nucleic acids, protein and cell wall
components.

IMPACT OF GENES
The G6PD enzyme maintains the level of NADPH in red blood cells, for protection against oxidative
stress. In case of its deficiency, the red blood cells are depleted of NADPH which denatures
hemoglobin. This results in hemolysis, i.e., destruction of red blood cells, both in intra- and
extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests. The U.S Food and Drug Administration (FDA) has issued a warning regarding the potential
hazard of administering certain drugs such as sulfonylureas (eg., glipizide), antidepressants,
antimalarials, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC, Swissmedic and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 49
FLUCLOXACILLIN

ABOUT
Speciality & class: Infectious Disease & Antibiotic
Usage: An antibiotic drug for treating bacterial infections.
Brands: Floxapen, Staphonex, Stafocin, Stafocid

HOW DOES IT WORK?


Flucloxacillin is a penicillin class antibiotic commonly preferred to fight staphylococcal and other
gram positive bacterial infections (streptococci, pneumococci). It is also effective against some
strains of gram negative aerobic or anaerobic bacteria. It is generally prescribed to treat bacterial
infections of the skin, urinary tract, respiratory tract, enteritis and other tissues.

IMPACT OF GENES
Genes involved in the metabolism of the drug in connection to its adverse reaction are not well
known. However, MHC loci may share a crucial role in determining the drug response of an
individual. Several genes like TNF, HSPA1L, HLA and ST6GAL1 may correlate with drug induced liver
injury. The MHC loci HLA-B*5701 has a greater significance of association with drug toxicity. HLA-
B*5701 is commonly detected by screening for its tag marker rs2395029. One out of 500-1000
people with HLA-B*5701 marker may have liver toxicity when treated with the drug. However,
cases of liver toxicity with HLA-B*5701 are hardly seen in Asian countries.

YOUR GENETIC REPORT

Gene : HLA-B*5701

Your Genotype: TG

Interpretation:
This indicates that you may be genetically susceptible to develop drug induced toxicity. Hence you
may be recommended a low dose of the drug or an alternate therapy. However, your physician shall
decide on the drug and the dose depending on other clinical factors or medications you might be
taking.
Evidence:
Swissmedic

REFERENCES

Daly AK, Donaldson PT, Bhatnagar P, et al. HLA-B*5701 genotype is a major determinant of drug-
induced liver injury due to flucloxacillin. Nat Genet. 2009;41(7):816-819. doi:10.1038/ng.379

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 50
ISONIAZID

ABOUT
Speciality & class: Infectious Disease & Antituberculosis drug
Usage: Used for active and latent tuberculosis
Brands: Solonex, Lup Inh, Isonij, Isoniazid

HOW DOES IT WORK?

Prevents TB bacteria replication and also kills TB Bacteria.

IMPACT OF GENES
N-acetyltransferase 2 (NAT2) is an important enzyme involved in xenobiotic- and drug related
metabolic reactions. Individuals carrying at least two slow-acetylator variants in the NAT2 gene are
classified slow acetylators, and may be exposed to levated plasma drug concentrations, due to
reduced drug clearance. Some studies have reported a link between slow acetylators and drug-
induced adverse effects such as toxicity. On the other hand, fast or rapid acetylators are more likely
to require higher drug doses due to possible therapy failure, due to rapid metabolism and
subtherapeutic plasma concentrations, but this needs further validation.

YOUR GENETIC REPORT

Gene : NAT2

Your Genotype: CC_CC

Interpretation:
According to your genotypes, the drug may be metabolized very slowly and result in increased plasma
concentrations. This can cause adverse reactions, due to toxicity. However, your physician shall decide
on the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA and PMDA

REFERENCES

An HR, Wu XQ, Wang ZY, Zhang JX, Liang Y. NAT2 and CYP2E1 polymorphisms associated with
antituberculosis drug-induced hepatotoxicity in Chinese patients. Clin Exp Pharmacol Physiol. 2012;
39(6):535-543. doi:10.1111/j.1440-1681.2012.05713.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 51
PYRAZINAMIDE

ABOUT
Speciality & class: Infectious Disease & Antituberculosis drug
Usage: Used for active and latent tuberculosis
Brands: Pyzina, P Zide, Macrozide, Pyra, Pza Ciba

HOW DOES IT WORK?

Inhibits reproduction of tuberculosis causing bacteria.

IMPACT OF GENES
N-acetyltransferase 2 (NAT2) is an important enzyme involved in xenobiotic- and drug related
metabolic reactions. Individuals carrying at least two slow-acetylator variants in the NAT2 gene are
classified slow acetylators, and may be exposed to levated plasma drug concentrations, due to
reduced drug clearance. Some studies have reported a link between slow acetylators and drug-
induced adverse effects such as toxicity. On the other hand, fast or rapid acetylators are more likely
to require higher drug doses due to possible therapy failure, due to rapid metabolism and
subtherapeutic plasma concentrations, but this needs further validation.

YOUR GENETIC REPORT

Gene : NAT2

Your Genotype: CC_CC

Interpretation:
According to your genotypes, the drug may be metabolized very slowly and result in increased plasma
concentrations. This can cause adverse reactions, due to toxicity. However, your physician shall decide
on the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA

REFERENCES

An HR, Wu XQ, Wang ZY, Zhang JX, Liang Y. NAT2 and CYP2E1 polymorphisms associated with
antituberculosis drug-induced hepatotoxicity in Chinese patients. Clin Exp Pharmacol Physiol. 2012;
39(6):535-543. doi:10.1111/j.1440-1681.2012.05713.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 52
ETHAMBUTOL

ABOUT
Speciality & class: Infectious Disease & Antituberculosis drug
Usage: Used for active and latent tuberculosis
Brands: Combutal, Zytham, Mycobutol, Ecox, Themibutol

HOW DOES IT WORK?

Inhibits reproduction of tuberculosis causing bacteria.

IMPACT OF GENES
N-acetyltransferase 2 (NAT2) is an important enzyme involved in xenobiotic- and drug related
metabolic reactions. Individuals carrying at least two slow-acetylator variants in the NAT2 gene are
classified slow acetylators, and may be exposed to levated plasma drug concentrations, due to
reduced drug clearance. Some studies have reported a link between slow acetylators and drug-
induced adverse effects such as toxicity. On the other hand, fast or rapid acetylators are more likely
to require higher drug doses due to possible therapy failure, due to rapid metabolism and
subtherapeutic plasma concentrations, but this needs further validation.

YOUR GENETIC REPORT

Gene : NAT2

Your Genotype: CC_CC

Interpretation:
According to your genotypes, the drug may be metabolized very slowly and result in increased plasma
concentrations. This can cause adverse reactions, due to toxicity. However, your physician shall decide
on the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

An HR, Wu XQ, Wang ZY, Zhang JX, Liang Y. NAT2 and CYP2E1 polymorphisms associated with
antituberculosis drug-induced hepatotoxicity in Chinese patients. Clin Exp Pharmacol Physiol. 2012;
39(6):535-543. doi:10.1111/j.1440-1681.2012.05713.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 53
RIFAMPIN

ABOUT
Speciality & class: Infectious Disease & Antibacterials
Usage: Treatment of Mycobacterium Tuberculosis (TB)
Brands: R-Cin, Rifacept, Montomycin, Serom, Rifalite, Rifacure

HOW DOES IT WORK?


Rifampin, isoniazid and pyrazinamide is a combination medicine used for treating TB. Rifampin
blocks DNA-dependent RNA polymerase enzyme and subsequent RNA synthesis, thus killing the
bacteria. Activated by bacterial enzymes in vivo, the drug compound blocks the production of
mycolic acid, present in bacterial cell wall. Pyrazinamide is a nicotinamide analog which inhibits
synthesis of bacterial fatty acids, by blocking fatty acid saturase enzyme activity.

IMPACT OF GENES
N-acetyltransferase 2 (NAT2) is an important enzyme involved in xenobiotic- and drug related
metabolic reactions. Individuals carrying at least two slow-acetylator variants in the NAT2 gene are
classified as slow acetylators, and may be exposed to elevated plasma drug concentrations, due to
reduced drug clearance resulting in adverse effects such as toxicity. On the other hand, fast or
rapid acetylators are more likely to require higher drug doses due to possible therapy failure, due
to rapid metabolism and subtherapeutic plasma concentrations, but needs further validation.

YOUR GENETIC REPORT

Gene : NAT2

Your Genotype: CC_CC

Interpretation:
According to your genotypes, the drug may be metabolized very slowly and result in increased plasma
concentrations. This can cause adverse reactions, due to toxicity. However, your physician shall decide
on the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA

REFERENCES

An HR, Wu XQ, Wang ZY, Zhang JX, Liang Y. NAT2 and CYP2E1 polymorphisms associated with
antituberculosis drug-induced hepatotoxicity in Chinese patients. Clin Exp Pharmacol Physiol. 2012;
39(6):535-543. doi:10.1111/j.1440-1681.2012.05713.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 54
RIVASTIGMINE

ABOUT
Speciality & class: Alzheimer Disease Agents, cholinesterase inhibitor
Usage: Used to treat neurodegenerative disease causing mild to moderate dementia
like Alzheimers and Parkinsons disease
Brands: Exelon, Rivamer, Rivasmine, Ritas

HOW DOES IT WORK?


Rivastigmine binds reversibly with and inactivates cholinesterase, preventing the hydrolysis of
acetylcholine, and thus leading to an increased concentration of acetylcholine at cholinergic
synapses in the brain which helps in controlling the progression of dementia in Alzheimers and
Parkinsons disease.

IMPACT OF GENES
The CHRNA7 gene on chromosome 15 encodes a cholinergic receptor. These nicotinic
acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that
mediate fast signal transmission at synapses. After binding acetylcholine, the AChR responds by
an extensive change in conformation that affects all subunits and leads to opening of an ion-
conducting channel across the plasma membrane.

YOUR GENETIC REPORT

Gene : CHRNA7

Your Genotype: TC

Interpretation:
According to your genotype, there is a likelihood for slightly reduced response to treatment with
rivastagmine. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Braga IL, Silva PN, Furuya TK, et al. Effect of APOE and CHRNA7 genotypes on the cognitive
response to cholinesterase inhibitor treatment at different stages of Alzheimer's disease. Am
J Alzheimers Dis Other Demen. 2015;30(2):139-144. doi:10.1177/1533317514539540

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 55
MEMANTINE

ABOUT
Speciality & class: Neurology & Alzheimer Disease Agents (N-methyl-D-aspartate (NMDA)
receptor antagonist)
Usage: Used in the treatment of Alzheimers and dementia
Brands: Admenta, Ebixa, Marixino, Almantin, Namenda, Namzaric

HOW DOES IT WORK?


Memantine is an N-methyl-D-aspartate (NMDA) receptor antagonist used in the management of
Alzheimers disease. It works by regulating excess production of the primary excitatory amino acid,
glutamate in the central nervous system, resulting in excitotoxicity and neuronal degeneration
which is responsible for dementia in Alzheimers disease.

IMPACT OF GENES
The NR1I2 gene codes for the pregnane X receptor (PXR) which is a member of the nuclear
receptor (NR) superfamily of transcription factors that regulates the induction of many genes.
Activation of PXR may result in disturbance in drug metaboslim causing toxicity.

YOUR GENETIC REPORT

Gene : NR1I2

Your Genotype: TC

Interpretation:
According to your genotype, you may have slightly faster clearance of Memantine. Other genetic and
clinical factors may also influence a patient's response to antidepressants. However, your physician
shall decide on the drug and the dose depending on other clinical factors or medications you might
be taking.
Evidence:
Literature

REFERENCES

Noetzli M, Guidi M, Ebbing K, et al. Population pharmacokinetic study of memantine: effects of


clinical and genetic factors. Clin Pharmacokinet. 2013;52(3):211-223. doi:10.1007/s40262-013-0032-2

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 56
DONEPEZIL

ABOUT
Speciality & class: Neurology & Alzheimer Disease Agents (acetylcholinesterase inhibitor)
Usage: Used to treat the behavioral and cognitive effects of Alzheimers disease and
other types of dementia.
Brands: Donep, Donecept, Adlarity, Aricept, Namzaric

HOW DOES IT WORK?


Donepezil selectively and reversibly inhibits the acetylcholinesterase enzyme, which normally
breaks down acetylcholine. The main pharmacological actions of this drug are believed to occur as
the result of this enzyme inhibition,increasing concentration of acetylcholine and enhancing
cholinergic transmission, which relieves the symptoms of Alzheimers dementia

IMPACT OF GENES
The CHAT gene provides instructions for making a protein called choline acetyltransferase. Choline
acetyltransferase facilitates the production of a molecule called acetylcholine. Acetylcholine is
essential for normal muscle movement.

YOUR GENETIC REPORT

Gene : CHRNA7

Your Genotype: TC

Interpretation:
According to your genotype, there is a likelihood for slightly reduced response to treatment with
donepezil. However, your physician shall decide on the drug and the dose depending on other clinical
factors or medications you might be taking.
Evidence:
FDA

REFERENCES

Braga IL, Silva PN, Furuya TK, et al. Effect of APOE and CHRNA7 genotypes on the cognitive
response to cholinesterase inhibitor treatment at different stages of Alzheimers disease. Am J
Alzheimers Dis Other Demen. 2015;30(2):139-144. doi:10.1177/1533317514539540

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 57
RASBURICASE

ABOUT
Speciality & class: Urology & Urate Oxidases
Usage: Treatment of hyperuricemia, chemotherapy induced elevated urate levels.
Brands: Rasby, Rascas, Rasuric, Elitek, Fasturtec, Rasuritek

HOW DOES IT WORK?


Rasburicase is a fungal urate oxidase which converts uric acid to allantoin (5- ureidohydantoin).
The drug helps treat hyperuricemia , by increasing the removal of urate from the body.

IMPACT OF GENES
G6PD deficiency, is an inherited condition caused by mutations in the G6PD gene on
chromosome X. The G6PD enzyme maintains the level of NADPH in red blood cells, for protection
against oxidative stress. In case of G6PD deficiency, the red blood cells are depleted of NADPH
which triggers a series of chemical reactions that oxidize hemoglobin to a denatured protein. This
results in hemolysis, i.e., destruction of red blood cells, both in intra- and extravascular domains.
Individuals carrying G6PD mutations are at risk for drug-induced acute hemolytic anemia and
may need to be monitored regularly.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC, EMA, Swissmedic, PMDA and HCSC

REFERENCES

Relling MV, McDonagh EM, Chang T, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin
Pharmacol Ther. 2014;96(2):169-174. doi:10.1038/clpt.2014.97

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 58
PEGLOTICASE

ABOUT
Speciality & class: Urology & Urate Oxidases
Usage: Treatment of hyperuricemia and refractory gout.
Brands: Krystexxa

HOW DOES IT WORK?


Pegloticase is a porcine urate oxidase which converts uric acid (urate) to allantoin (5-
ureidohydantoin). The drug helps treat hyperuricemia, by increasing the removal of urate from the
body.

IMPACT OF GENES
G6PD (Glucose-6 Phosphate Dehydrogenase) deficiency, or favism, is an inherited condition
caused by mutations in the G6PD gene on chromosome X. The G6PD enzyme maintains the level
of NADPH in red blood cells, for protection against oxidative stress. In case of G6PD deficiency, the
red blood cells are depleted of NADPH which triggers a series of chemical reactions that oxidize
hemoglobin to a denatured protein. This results in hemolysis, i.e., destruction of red blood cells,
both in intra- and extravascular domains. Individuals carrying G6PD mutations are at risk for drug-
induced AHA (acute hemolytic anemia) and may need to be monitored regularly, via complete
blood count tests.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, CPIC and EMA

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 59
METHOTREXATE

ABOUT
Speciality & class: Immunology & Immunosuppressants
Usage: Treatment of cancers, hydatidiform mole and autoimmune diseases.
Brands: Mexate, Imutrex, Merex, Mext, Biotrexate, Caditrex, Auratrex, Carditrex,
Dermatrex

HOW DOES IT WORK?


Methotrexate has DMARD( Disease modifying antirheumatic drugs) of first choice and the
standard treatment for most patients, including cases of juvenile. The drug is a folic acid
antagonist, i.e., an antimetabolite that inhibits purine/pyrimidine synthesis. It binds to
dihydrofolate reductase enzyme to block DNA synthesis, thereby stopping cell growth and
proliferation. Methotrexate is also an inhibitor of the JAK/STAT pathway, which is why it is used to
control autoimmune response, inflammation, and cytokine dysregulation.

IMPACT OF GENES
Genetic studies have identified a strong link between MTHFR (methylenetetrahydrofolate
reductase) gene and methotrexate toxicity (adverse effects). Sequence variation in MTHFR can
reduce enzyme activity and thus lower the overall production of purines, which increases the risk
for drug-induced toxicity. Individuals who carry one or two copies of the C677T MTHFR risk variant
may be at higher risk for adverse effects, when compared to those with the normal genotype.

YOUR GENETIC REPORT

Gene : MTHFR

Your Genotype: AG

Interpretation:
According to your genotype, you have one copy of the genetic variant which increases drug sensitivity
and risk for adverse effects. Standard therapy may be less effective. However, your physician shall
decide on the drug and the dose depending on other clinical factors or medications you might be
taking.
Evidence:
Literature

REFERENCES

van Ede AE, Laan RF, Blom HJ, et al. The C677T mutation in the methylenetetrahydrofolate
reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in
rheumatoid arthritis patients. Arthritis Rheum. 2001;44(11):2525-2530. doi:10.1002/1529-0131(200111)44:
11<2525::aid-art432>3.0.co;2-b

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 60
TACROLIMUS

ABOUT
Speciality & class: Immunology & Immunosuppressants
Usage: Prevents graft rejection after transplantation, topical agent in dermatitis.
Brands: Tacromus, Tacros, Tacroderm, Tacrograf, Tacroderm, Tacrokid

HOW DOES IT WORK?


It is a macrolide lactone which effectively prolongs graft survival, after organ transplantation. It
inhibits T-cell activation by binding to the immunophilin FK-binding protein 12, to block the
expression of IL-2 (interleukin). It is effective against skin conditions such as eczema due to its anti
inflammatory action (although less effective than steroids). The drug can be used topically on the
face safely.

IMPACT OF GENES
Individuals with genetic variants of CYP3A5 (cytochrome p450 3A5) may be poor metabolizers of
the drug, and may require standard doses. Extensive and intermediate metabolizers may require
higher doses of the drug.

YOUR GENETIC REPORT

Gene : CYP3A5

Your Genotype: *1/*3

Interpretation:
According to your genotypes, this drug may be metabolized less rapidly and therapy could be
effective. However, your physician shall decide on the drug and the dose depending on other clinical
factors or medications you might be taking.
Evidence:
FDA and CPIC

REFERENCES

Birdwell KA, Decker B, Barbarino JM, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing. Clin Pharmacol Ther. 2015;98(1):19-
24. doi:10.1002/cpt.113

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 61
MYCOPHENOLATE MOFETIL

ABOUT
Speciality & class: Immunology & Immunosuppressants
Usage: Used to prevent graft rejections post organ transplantation and to treat
autoimmune conditions
Brands: Mycept, Cellcept, Mycofit, Mycomune

HOW DOES IT WORK?


Mycophenolate mofetil is a prodrug of mycophenolic acid (MPA). The active form of
mycophenolate, MPA, prevents the proliferation of immune cells and the formation of antibodies
that cause transplant rejection. It inhibits de novo purine biosynthesis by inhibiting the inosine 5-
monophosphate dehydrogenase enzyme (IMPDH). It reduces the production of cells which causes
inflammation.

IMPACT OF GENES
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome
P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism
and synthesis of cholesterol, steroids and other lipids. The enzyme is known to metabolize many
xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin,
and the anti-cancer drug taxol.

YOUR GENETIC REPORT

Gene : IL10

Your Genotype: TG

Interpretation:
According to your genotype, there may be slightly increased risk for biopsy-proven acute rejection
(BPAR). Other genetic and clinical factors may also influence a patient's risk for biopsy-proven acute
rejection. However, your physician shall decide on the drug and the dose depending on other clinical
factors or medications you might be taking.
Evidence:
Literture

REFERENCES

Grinyo J, Vanrenterghem Y, Nashan B, et al. Association of four DNA polymorphisms with acute
rejection after kidney transplantation. Transpl Int. 2008;21(9):879-891. doi:10.1111/j.1432-
2277.2008.00679.x

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 62
DEXAMETHASONE

ABOUT
Speciality & class: Immunology & Steroid (Glucocorticoid)
Usage: Used to treat inflammatory and autoimmune conditions.
Brands: Dexona, Dexasone, Decamycin, Decadron

HOW DOES IT WORK?


Dexamethasone is a glucocorticoid that has a direct local effect on vasoconstriction and anti-
inflammatory activity by decreasing inflammatory cells which cause vasodilation, vascular
permeability, and leukocyte infiltration, and also by increasing the activity of anti-inflammatory
substances

IMPACT OF GENES
The CTNNB1 gene encodoes for a protein called beta-catenin and is also involves in WnT signalling
pathway. THis pathway triggers a multistep process that allows the protein to move into the cell
nucleus. The Wnt signaling pathway promotes the growth and proliferation of cells.

YOUR GENETIC REPORT

Gene : CTNNB1

Your Genotype: AG

Interpretation:
According to your genotype, you may have slightly high risk for decreased response towards the drug
therapy. Other clinical and genetic factors may also influence changes in intraocular pressure in
patients with retinal disease. However, your physician shall decide on the drug and the dose
depending on other clinical factors or medications you might be taking.
Evidence:
Literture

REFERENCES

Butrym A, Rybka J, Lacina P, et al. Polymorphisms within beta-catenin encoding gene affect
multiple myeloma development and treatment. Leuk Res. 2015;39(12):1462-1466. doi:10.1016/j.leukres.
2015.10.007

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 63
FLUTICASONE PROPIONATE

ABOUT
Speciality & class: Immunology & Steroid (Glucocorticoid)
Usage: Used to manage and treat asthma, allergic rhinitis, emphysema and atopic
dermatitis
Brands: Flutivate, Flomist, Flutiflo, Fluticone, Floresp

HOW DOES IT WORK?


Fluticasone propionate is a highly selective agonist at the glucocorticoid receptor. It has a direct
local effect on vasoconstriction and anti-inflammatory activity by decreasing inflammatory cells
which cause vasodilation, vascular permeability, and leukocyte infiltration, and also by increasing
the activity of anti-inflammatory substances.

IMPACT OF GENES
This gene encodes a protein which catalyze the reversible hydration of carbon dioxide in various
biological processes. The protein encoded by this geneplay a role in the central nervous system,
especially in brain development.

YOUR GENETIC REPORT

Gene : CA10

Your Genotype: TC

Interpretation:
According to your genotype, you may have slightly poor response to drug therapy. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
Literature

REFERENCES

Perin P, Potonik U. Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and
CTNNA3 are associated with disease severity and treatment response in childhood asthma.
Immunogenetics. 2014;66(3):143-151. doi:10.1007/s00251-013-0755-0

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 64
TRIAMCINOLONE

ABOUT
Speciality & class: Immunology & Steroids (Corticosteroid)
Usage: Used to treat a wide variety of inflammatory conditions of organ systems and
tissues such as allergies, ulcerative colitis, arthritis, lupus, psoriasis, or breathing
disorders.
Brands: Ledercort, Aristocort, Stancort, Oraways

HOW DOES IT WORK?


Triamcinolone inhibits phospholipase A2 on cell membranes, preventing the breakdown of
lysosomal membranes of leukocytes, which in turn prevents the formation of arachidonic acid,
which decreases the expression of cyclooxygenase and lipoxygenase, inhibiting the synthesis of
prostaglandins and leukotrienes which exhibit the anti-inflammatory effect.

IMPACT OF GENES
Human leukocyte antigens (HLA) are genes in major histocompatibility complexes that help code
for proteins that differentiate between self and non-self. They play a significant role in disease and
immune defense. They are beneficial to the immune system but can also have detrimental effects.
HLA COMPLEX GROUP 22 (HCG22) is one of the genes from HLA complex.

YOUR GENETIC REPORT

Gene : HCG22

Your Genotype: TC

Interpretation:
According to your genotype, you may have a slightly increased intraocular pressure when treated with
Triamcinolone. Other clinical and genetic factors may also influence changes in intraocular pressure in
patients with retinal disease. However, your physician shall decide on the drug and the dose
depending on other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Jeong S, Patel N, Edlund CK, et al. Identification of a Novel Mucin Gene HCG22 Associated With
Steroid-Induced Ocular Hypertension. Invest Ophthalmol Vis Sci. 2015;56(4):2737-2748. doi:10.1167
/iovs.14-14803

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 65
SODIUM NITRITE

ABOUT
Speciality & class: Toxicology & Antidotes
Usage: Antidote of cyanide poisoning in conjunction with sodium thiosulphate.
Brands: Cyanide Antidote Kit, Nithiodote, Cyanokit

HOW DOES IT WORK?


Sodium nitrite is an inorganic compound which increases the internal level of methemoglobin or
MetHb (i.e., oxidized form of hemoglobin or the ferric form). MetHb binds to cyanide (poison) to
form cyanohemoglobin (non-poisonous). Sodium nitrite also has shown to exert protective
cardiovascular effect, antihypertensive effect and vasodilation in vascular smooth muscles.

IMPACT OF GENES
G6PD (Glucose-6 Phosphate Dehydrogenase) deficiency, or favism, is an inherited condition
caused by mutations in the G6PD gene on chromosome X. The G6PD enzyme maintains the level
of NADPH in red blood cells, for protection against oxidative stress. In case of G6PD deficiency, the
red blood cells are depleted of NADPH which triggers a series of chemical reactions that oxidize
hemoglobin to a denatured protein. This results in hemolysis, i.e., destruction of red blood cells,
both in intra- and extravascular domains. Individuals carrying G6PD mutations are at risk for drug-
induced AHA (acute hemolytic anemia) and may need to be monitored regularly.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 66
SUCCIMER

ABOUT
Speciality & class: Toxicology & Antidotes
Usage: Chelating agent used in lead, mercury, cadmium and arsenic poisoning.
Brands: Chemet

HOW DOES IT WORK?


Succimer or 2, 3-dimercaptosuccinic acid (DMSA), cures lead toxicity (especially in pediatrics) by its
chelation of heavy metals (poison) in the bloodstream for the formation of water-soluble
complexes. These compounds are eliminated from the body, by subsequent excretion via the
kidneys.

IMPACT OF GENES
G6PD (Glucose-6 Phosphate Dehydrogenase) deficiency, or favism, is an inherited condition
caused by mutations in the G6PD gene on chromosome X. The G6PD enzyme maintains the level
of NADPH in red blood cells, for protection against oxidative stress. In case of G6PD deficiency, the
red blood cells are depleted of NADPH which triggers a series of chemical reactions that oxidize
hemoglobin to a denatured protein. This results in hemolysis, i.e., destruction of red blood cells,
both in intra- and extravascular domains. Individuals carrying G6PD mutations are at risk for drug-
induced AHA (acute hemolytic anemia) and may need to be monitored regularly.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA

REFERENCES

Gerr F, Frumkin H, Hodgins P. Hemolytic anemia following succimer administration in a glucose-6-


phosphate dehydrogenase deficient patient. J Toxicol Clin Toxicol. 1994;32(5):569-575. doi:10.3109
/15563659409011061

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 67
DABRAFENIB

ABOUT
Speciality & class: Oncology & Kinase Inhibitor Chemotherapeutics
Usage: Used in the treatment of metastatic melanoma.
Brands: Tafinlar

HOW DOES IT WORK?


It is a protein kinase inhibitor which targets the tumour-specific mutation BRAF V600E, seen in
around eighty percent of melanoma patients. BRAF is an protooncogene which is a key regulator
of the RAS/MAPK pathway. This pathway carries out important events such as cellular division,
differentiation, migration and apoptosis. Mutant cells display uncontrolled cellular proliferation.
Dabrafenib targets the MAPK pathway, through selective inhibition of the BRAF mutations in the
melanoma cells. Thus, it reduces the size of metastatic tumours.

IMPACT OF GENES
Dabrafenib can trigger hemolysis in melanoma patients who are positive for glucose-6-phosphate
dehydrogenase (G6PD) mutations. These individuals are at risk for drug-induced AHA (acute
hemolytic anaemia) and may need to monitored regularly, via complete blood count tests. The U.S
Food and Drug Administration (FDA) has issued a warning regarding the potential hazard of
administering certain drugs such as antidepressants, antimalarials, dabrafenib, etc.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, EMA and HCSC

REFERENCES

Gammal RS, Pirmohamed M, Somogyi AA, et al. Expanded Clinical Pharmacogenetics


Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype
[published online ahead of print, 2022 Sep 1]. Clin Pharmacol Ther. 2022;10.1002/cpt.2735. doi:10.1002
/cpt.2735

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 68
SUNITINIB

ABOUT
Speciality & class: Oncology & Chemotherapy (Tyrosine kinase inhibitor)
Usage: Used for the treatment of renal cell carcinoma (RCC) and imatinib-resistant
gastrointestinal stromal tumor (GIST).
Brands: Rcnet, Nitnib, Tunib, Sunicine

HOW DOES IT WORK?


Sunitinib acts by inhibiting cellular signaling by targeting multiple receptor tyrosine kinases like
platelet-derived growth factors (PDGF-Rs) and vascular endothelial growth factor receptors
(VEGFRs), which play a role in both tumor angiogenesis and tumor cell proliferation leading to
reduced tumor vascularization and tumor cell apoptosis resulting in tumor shrinkage.

IMPACT OF GENES
The cytochrome P450 proteins are monooxygenases that catalyse numerous chemical processes
essential for drug metabolism and the production of steroid hormones, cholesterol, and other
lipids. Individuals with genetic variants of CYP3A5 (cytochrome p450 3A5) may be poor
metabolizers of the drug, and may require standard doses. Extensive and intermediate
metabolizers may require higher doses of the drug.

YOUR GENETIC REPORT

Gene : CYP3A5

Your Genotype: TC

Interpretation:
According to your genotype, the drug might be metabolized to a lesser extent in your body. You might
be susceptible for developing drug induced toxicity (myopathy or muscle toxicity). Hence you may be
recommended a very low dose of the drug or an alternate therapy. However, your physician shall
decide on the drug and the dose depending on other clinical factors or medications you might be
taking.
Evidence:
EMA

REFERENCES

Garcia-Donas J, Esteban E, Leandro-Garcia LJ, et al. Single nucleotide polymorphism associations


with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-
line sunitinib: a multicentre, observational, prospective study. Lancet Oncol. 2011;12(12):1143-1150. doi:
10.1016/S1470-2045(11)70266-2

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 69
CYCLOPHOSPHAMIDE

ABOUT
Speciality & class: Oncology & Chemotherapy (Alkylating agents)
Usage: Used to treat cancers like lymphoma, multiple myeloma, leukemia, ovarian
cancer, breast cancer, small cell lung cancer, neuroblastoma, and sarcoma and
also as an immunosuppressant.
Brands: Endoxan, Cycloxan, Cyclocel, Oncomide

HOW DOES IT WORK?


Cyclophosphamide is a nitrogen mustard drug that acts by alkylation of DNA. The main effect is
due to its metabolite phosphoramide mustard. It forms DNA interstrand and intrastrand cross
linkages both between and within DNA strands at guanine N-7 positions which is irreversible and
leads to cell apoptosis.

IMPACT OF GENES
The CTNNB1 gene encodoes for a protein called beta-catenin and is also involves in WnT signalling
pathway. THis pathway triggers a multistep process that allows the protein to move into the cell
nucleus. The Wnt signaling pathway promotes the growth and proliferation of cells.

YOUR GENETIC REPORT

Gene : CTNNB1

Your Genotype: AG

Interpretation:
According to your genotype, you may have slightly high risk for decreased response towards the drug
therapy. Other genetic and clinical factors may also influence a patient's response to
cyclophosphamide. However, your physician shall decide on the drug and the dose depending on
other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Butrym A, Rybka J, Lacina P, et al. Polymorphisms within beta-catenin encoding gene affect
multiple myeloma development and treatment. Leuk Res. 2015;39(12):1462-1466. doi:10.1016/j.leukres.
2015.10.007

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 70
LENALIDOMIDE

ABOUT
Speciality & class: Oncology & Immunomodulator (Anti neoplastic drug)
Usage: Used to treat multiple myeloma and anemia in low to intermediate risk
myelodysplastic syndrome.
Brands: Lenalid, Lenangio, Lenmid, Lenzest, Lenid

HOW DOES IT WORK?


Lenalidomide exerts immunomodulating effects by altering cytokine production, regulating T cell
co-stimulation, and enhancing the NK cell-mediated cytotoxicity and also directly exerts antitumor
effects by inhibiting the proliferation and inducing apoptosis of tumor cell.

IMPACT OF GENES
The CTNNB1 gene encodoes for a protein called beta-catenin and is also involves in WnT signalling
pathway. THis pathway triggers a multistep process that allows the protein to move into the cell
nucleus. The Wnt signaling pathway promotes the growth and proliferation of cells.

YOUR GENETIC REPORT

Gene : CTNNB1

Your Genotype: AG

Interpretation:
According to your genotype, you have the genetic variant which affects the drug response and can
cause slightly elevated risk for neutropenia. However, your physician shall decide on the drug and the
dose depending on other clinical factors or medications you might be taking.
Evidence:
EMA, PMDA and HCSC

REFERENCES

Butrym A, Rybka J, Jacina P, et al. Polymorphisms within beta-catenin encoding gene affect
multiple myeloma development and treatment. Leuk Res. 2015;39(12):1462-1466. doi:10.1016/j.leukres.
2015.10.007

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 71
ANASTROZOLE

ABOUT
Speciality & class: Oncology & Aromatase inhibitor
Usage: Used to treat breast cancer in postmenopausal women.
Brands: Arimidex, Stazonex, Femistra, Armotraz

HOW DOES IT WORK?


Anastrozole is a competitive, selective, non-steroidal aromatase inhibitor that works by inhibiting
the action of the enzyme aromatase, which converts androgens into estrogens by a process called
aromatization. As breast tissue is stimulated by estrogens, decreasing their production is a way of
suppressing the breast tumor tissue.

IMPACT OF GENES
Estrogen Receptor 1 (ESR1) is a gene that codes for proteins. Breast cancer and oestrogen
resistance are two diseases linked to ESR1. This gene is expressed in many tissues that play a role in
growth, metabolism, sexual development, gestation, and other reproductive functions.

YOUR GENETIC REPORT

Gene : ESR1

Your Genotype: AG

Interpretation:
According to your genotype, you may have high risk of pain. However, your physician shall decide on
the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA and HCSC

REFERENCES

Wang J, Lu K, Song Y, et al. Indications of clinical and genetic predictors for aromatase inhibitors
related musculoskeletal adverse events in Chinese Han women with breast cancer. PLoS One. 2013;
8(7):e68798. Published 2013 Jul 19. doi:10.1371/journal.pone.0068798

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 72
LETROZOLE

ABOUT
Speciality & class: Oncology & Aromatase inhibitor
Usage: Used to treat breast cancer in postmenopausal women.
Brands: Letroz, Letoval, Letrohope, Induz

HOW DOES IT WORK?


Letrozole is an aromatase inhibitor that works by inhibiting the action of the enzyme aromatase,
which converts androgens into estrogens by a process called aromatization. As breast tissue is
stimulated by estrogens, decreasing their production is a way of suppressing the breast tumor
tissue.

IMPACT OF GENES
Estrogen Receptor 1 (ESR1) is a gene that codes for proteins. Breast cancer and oestrogen
resistance are two diseases linked to ESR1. This gene is expressed in many tissues that play a role in
growth, metabolism, sexual development, gestation, and other reproductive functions.

YOUR GENETIC REPORT

Gene : ESR1

Your Genotype: AG

Interpretation:
According to your genotype, you may have high risk of pain. However, your physician shall decide on
the drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, PMDA and HCSC

REFERENCES

Wang J, Lu K, Song Y, et al. Indications of clinical and genetic predictors for aromatase inhibitors
related musculoskeletal adverse events in Chinese Han women with breast cancer. PLoS One. 2013;
8(7):e68798. Published 2013 Jul 19. doi:10.1371/journal.pone.0068798

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 73
SALBUTAMOL

ABOUT
Speciality & class: Pulmonology & Bronchodilators
Usage: Used in the treatment of bronchitis, asthma, COPD.
Brands: Asthalin, Salbetol, Asthavent, Astinol, Salbair Resp

HOW DOES IT WORK?


Salbutamol is a strong selective beta2-adrenergic receptor agonist which helps dilate the airways
in the lungs, by relaxing the bronchial smooth muscles. The drug also helps in the removal of
pathogens from the airway, by improving the function of cilia in the respiratory epithelium. It can
also be used for prophylaxis of exercise induced asthma.

IMPACT OF GENES
A polymorphism in the beta-2 adrenergic receptor (ADRB2) gene affects bronchodilator response
in adults and children. This variant causes a Glycine-to-Arginine amino acid change in the gene
product (or protein), which affects cAMP levels and severity of asthma symptoms. Individuals who
are heterozygous or homozygous for the variant (Arg) allele may be poor responders and also
experience worsening of clinical symptoms.

YOUR GENETIC REPORT

Gene : ADRB2

Your Genotype: AG

Interpretation:
This indicates that your genetic inclination of having an effective response for the drug therapy may
be slightly reduced. However, your physician shall decide on the drug and the dose depending on
other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Basu K, Palmer CN, Tavendale R, Lipworth BJ, Mukhopadhyay S. Adrenergic beta(2)-receptor


genotype predisposes to exacerbations in steroid-treated asthmatic patients taking frequent
albuterol or salmeterol. J Allergy Clin Immunol. 2009;124(6):1188-94.e3. doi:10.1016/j.jaci.2009.07.043

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 74
PEG3350

ABOUT
Speciality & class: General Medicine & Laxative
Usage: Laxative used for colon cleansing prior to medical procedures.
Brands: Cipeg, Looz Peg, Pegsure, Muout, Laxolite

HOW DOES IT WORK?


The combination of PEG-3350, sodium sulphate, sodium chloride, potassium chloride,sodium
ascorbate and ascorbic acid (Vitamin C) is used as a colon cleanser and sold under the name
Moviprep. The drug solution helps in gastric emptying, to get rid of fecal debris. It also carries
electrolytes to replenish lost minerals.

IMPACT OF GENES
G6PD (Glucose-6 Phosphate Dehydrogenase) deficiency, is an inherited condition caused by
mutations in the G6PD gene on chromosome X. The G6PD enzyme maintains the level of NADPH
in red blood cells, for protection against oxidative stress. In case of G6PD deficiency, the red blood
cells are depleted of NADPH which triggers a series of chemical reactions that oxidize hemoglobin
to a denatured protein. This results in hemolysis, i.e., destruction of red blood cells, both in intra-
and extravascular domains. Individuals carrying G6PD mutations are at risk for drug-induced AHA
(acute hemolytic anemia) and may need to be monitored regularly, via complete blood count
tests.

YOUR GENETIC REPORT

Gene : G6PD

Your Genotype: CC_TG_GG_GG

Interpretation:
According to your genotypes, you are heterozygous for G6PD variants which can cause enzyme
deficiency. Hence, the drug can trigger hemolytic anaemia as an adverse effect. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
FDA, PMDA and HCSC

REFERENCES

https://www.accessdata.fda.gov/drugsatfda_docs/label/2011/021881s008medg.pdf

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 75
SALMETEROL

ABOUT
Speciality & class: General Medicine & Anti-asthamatic
Usage: Used to treat moderate-to-severe persistent asthma.
Brands: Salmeter, Serobid, Azrol, Seoflo

HOW DOES IT WORK?

Relax respiratory muscles and prevent the onset and worsening of symptoms of asthma.

IMPACT OF GENES
The Arg16Gly polymorphism in the ADRB2 (beta-2 adrenergic receptor) gene causes
interindividual variation in cirrhosis patients receiving propranolol treatment. The presence of the
effect allele may cause therapy failure in some patients.

YOUR GENETIC REPORT

Gene : ADRB2

Your Genotype: AG

Interpretation:
According to your genotypes, this drug may be activated to a lesser extent and therapy could be less
effective on you. However, your physician shall decide on the drug and the dose depending on other
clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Basu K, Palmer CN, Tavendale R, Lipworth BJ, Mukhopadhyay S. Adrenergic beta(2)-receptor


genotype predisposes to exacerbations in steroid-treated asthmatic patients taking frequent
albuterol or salmeterol. J Allergy Clin Immunol. 2009;124(6):1188-94.e3. doi:10.1016/j.jaci.2009.07.043

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 76
MONTELUKAST

ABOUT
Speciality & class: General Medicine & Leukotriene receptor antagonist
Usage: Used in the treatment of asthma, exercise-induced bronchoconstriction and
rhinitis.
Brands: Montair, Telekast, Montek, Romilast

HOW DOES IT WORK?


Montelukast is a highly selective leukotriene receptor antagonist that binds with high affinity to
the cysteinyl leukotriene receptor. It binds to leukotriene receptors inhibiting the activity of
leukotriene D4 in the lungs resulting in decreased inflammation and relaxation of smooth muscle
and also reducing bronchoconstriction, mucus production, and other inflammatory actions.

IMPACT OF GENES
This gene encodes a protein which catalyze the reversible hydration of carbon dioxide in various
biological processes. The protein encoded by this geneplay a role in the central nervous system,
especially in brain development.

YOUR GENETIC REPORT

Gene : CA10

Your Genotype: TC

Interpretation:
According to your genotype, you may have slightly poor response to drug therapy. However, your
physician shall decide on the drug and the dose depending on other clinical factors or medications
you might be taking.
Evidence:
Literature

REFERENCES

Perin P, Potonik U. Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and
CTNNA3 are associated with disease severity and treatment response in childhood asthma.
Immunogenetics. 2014;66(3):143-151. doi:10.1007/s00251-013-0755-0

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 77
ALENDRONATE

ABOUT
Speciality & class: General Medicine & Bisphosphonates
Usage: Used to treat osteoporosis in both females and males, also in the prevention
and treatment of steroid-associated osteoporosis, and Pagets disease of the
bone.
Brands: Adrovance, Binosto, Fosamax, Fosavance

HOW DOES IT WORK?


Alendronate is a bisphosphonate, it works by inhibiting osteoclast-mediated bone resorption.
Alendronate binds to bone hydroxyapatite matrix which downregulates osteoclast-mediated bone
reabsorption and decreases bone matrix breakdown. It decreases bone resorption but does not
modify the bone mineral composition. It is recommended to use along with Vitamin D and
calcium supplementation.

IMPACT OF GENES
The vitamin D receptor (VDR) gene codes for the production of a protein that enables the body to
react to vitamin D. Several elements in the body, such as calcium and phosphate, which are
necessary for the healthy development of bones and teeth, are kept in the appropriate balance by
vitamin D.

YOUR GENETIC REPORT

Gene : VDR

Your Genotype: TC

Interpretation:
According to your genotype, you may have reduced response to the drug and may have less
improvement in bone mineral density. However, your physician shall decide on the drug and the dose
depending on other clinical factors or medications you might be taking.
Evidence:
Literature

REFERENCES

Palomba S, Orio F Jr, Russo T, et al. BsmI vitamin D receptor genotypes influence the efficacy of
antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter,
randomized and controlled trial. Osteoporos Int. 2005;16(8):943-952. doi:10.1007/s00198-004-1800-5

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 78
OMEPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Treatment of heartburn & symptoms of Gastro-Esophageal Reflux Disease.
Brands: Omez, Oskar, Omesec, Omicap, Omepren, Omizac, Procid, Protoloc, Skyzole,
Ulzol

HOW DOES IT WORK?


Omeprazole stops the production of acid in parietal cells, by blocking the H+/K+ATPase proton
pump, via irreversible binding to the H+/K+ATPase.

IMPACT OF GENES
Omeprazole is metabolized by the CYP2C19 enzyme of the cytochrome p450 family of proteins.
Ultrarapid metabolizers (greater cytochrome enzyme activity) may experience failure in treatment
(due to subtherapeutic drug concentrations). Intermediate and poor metabolizers (reduced
cytochrome enzyme activity) display greater plasma drug concentrations and may experience
successful therapy.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC, Swissmedic, PMDA and HCSC

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 79
ESOMEPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Used in Gastroesophageal Reflux Disease & erosive esophagitis.
Brands: Sompraz, Nexpro, Esoz, Neksium, Esomac, Esofag, Zosec, Stomatix, Raciper, Izra

HOW DOES IT WORK?


Esomeprazole is the S-isomer of omeprazole and stops the production of acid in parietal cells, by
blocking the H+/K+ATPase proton pump pathway. Some studies found that this drug is more
efficient at inhibiting acid secretion, when compared with omeprazole.

IMPACT OF GENES
Esomeprazole is metabolized by the CYP2C19 enzyme of the cytochrome p450 family of proteins.
The effect of CYP2C19 genotype on proton pump inhibitor (PPi) efficacy has been extensively
studied. Ultrarapid metabolizers (greater cytochrome enzyme activity) may experience failure in
treatment (due to subtherapeutic drug concentrations). Intermediate and poor metabolizers
(reduced cytochrome enzyme activity) display greater plasma drug concentrations and may
experience successful therapy. However, genotype-based differences in intragastric pH are less
significant in case of esomeprazole, when compared with omeprazole and lansoprazole.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC, EMA, Swissmedic, PMDA and HCSC

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 80
LANSOPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Used in Gastroesophageal Reflux Disease & erosive esophagitis.
Brands: Lanzol, Lanzoprax, Locid, Lanzopen, Lan, Prevacid, Protogut, Zapacid, Lanzap,
Lancid

HOW DOES IT WORK?


Lansoprazole stops the production of acid in parietal cells, by blocking the H+/K+ATPase proton
pump, via irreversible binding to the H+/K+ATPase.

IMPACT OF GENES
Lansoprazole is metabolized by the CYP2C19 enzyme of the cytochrome p450 family of proteins.
Ultrarapid metabolizers (greater cytochrome enzyme activity) may experience failure in treatment
(due to subtherapeutic drug concentrations). Intermediate and poor metabolizers (reduced
cytochrome nzyme activity) display greater plasma drug concentrations and may experience
successful therapy.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC and Swissmedic

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 81
PANTOPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Used in Gastroesophageal Reflux Disease & erosive esophagitis.
Brands: Pan, Pantop, Pantocid, Pantodac, Pansec, Pantin, Nupenta, Zylpan

HOW DOES IT WORK?


Pantoprazole stops the production of acid in parietal cells, by blocking the H+/K+ATPase proton
pump, via irreversible binding to the H+/K+ATPase.

IMPACT OF GENES
Pantoprazole is metabolized by the CYP2C19 enzyme of the cytochrome p450 family of proteins.
Ultrarapid metabolizers (greater cytochrome enzyme activity) may experience failure in treatment
(due to subtherapeutic drug concentrations). These individuals may need an higher dose of
pantoprazole, for effective treatment. Intermediate and poor metabolizers (reduced cytochrome
enzyme activity) display greater plasma drug concentrations and may experience successful
therapy.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC and Swissmedic

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 82
RABEPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Treatment of symptoms of GERD, H. pylori infection & peptic ulcer.
Brands: Rabicip, Rabeloc, Rabifast, Rekool, Veloz, Rabemac, Happi

HOW DOES IT WORK?


Proton pump inhibitor used in the treatment of heartburn, symptoms of Gastro Esophageal
Reflux Disease (GERD), Helicobacter pylori infection and peptic ulcer.

IMPACT OF GENES
Rabeprazole is metabolized by the CYP2C19 enzyme. The effect of the CYP2C19 genotype on
proton pump inhibitor (PPi) efficacy has been extensively studied. Ultrarapid metabolizers (greater
enzyme activity) may experience failure in treatment (due to subtherapeutic drug concentrations).
Intermediate and poor metabolizers (reduced cytochrome activity) display greater plasma drug
concentrations and may experience successful therapy. However, genotype-based differences in
intragastric pH are less significant in the case of rabeprazole, when compared with omeprazole
and lansoprazole.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC, Swissmedic, PMDA and HCSC

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 83
DEXLANSOPRAZOLE

ABOUT
Speciality & class: Gastroenterology & Proton Pump Inhibitors
Usage: Used for Gastroesophageal Reflux Disease & erosive esophagitis.
Brands: Dexlanzol, Dexolan, Lanfil Dx, Lantas-Dx, Duabit

HOW DOES IT WORK?


Dexlansoprazole is the R-enantiomer of lansoprazole, and stops the production of acid in parietal
cells, by locking the H+/K+ATPase proton pump, via irreversible binding to the H+/K+ATPase.

IMPACT OF GENES
Dexlansoprazole is metabolized by the CYP2C19 enzyme of the cytochrome p450 family of
proteins. Ultrarapid metabolizers (greater cytochrome enzyme activity) may experience failure in
treatment (due to subtherapeutic drug concentrations). Intermediate and poor metabolizers
(reduced cytochrome enzyme activity) display greater plasma drug concentrations and may
experience successful therapy.

YOUR GENETIC REPORT

Gene : CYP2C19

Your Genotype: *1/*17

Interpretation:
According to your genotype, the drug may be metabolized to a greater extent, and clinical response
may be low, due to subtherapeutic drug concentrations. However, your physician shall decide on the
drug and the dose depending on other clinical factors or medications you might be taking.
Evidence:
FDA, CPIC, Swissmedic and HCSC

REFERENCES

Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium
(CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):
1417-1423. doi:10.1002/cpt.2015

Caution: Do not change or alter the medicines without consulting your doctor
©Mapmygenome MMG013071MMP0523540 84
©Mapmygenome MMG013071MMP0523540 85
©Mapmygenome MMG013071MMP0523540 86

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