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Genessense, C/o. MedGenome Labs Ltd., 3rd Floor, Narayana Nethralaya BuildingNarayana Nethralaya City, #258/A, Bommasandra, Hosur Road, Bangalore-560 099
Phone: 1800 103 7590
Email: [email protected]
Website: www.genessense.com
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YO U R P E R S O N A L I Z E D D R U G
R E S P O N S E R E P ORT
Your personalized drug response report
NAME
GENDER
KIT ID
Saliva / blood
SAMPLE TYPE
No two people are the same. Our genetic makeup makes us all unique.
We have assessed your response to 45+ drugs/drug classes covered across
10 disease categories. across a range of diseases. These results will let you
know if you metabolize these drugs differently than average.
The report will tell you if the drug has normal, decreased, increased or
no function in your body.
Please Note: Your health care provider also considers other factors such as your
age, lifestyle, other medications you are taking and your overall health when
choosing the right treatment for you.
TRUE WELLBEING THROUGH
PERSONALIZED MEDICINE
18 Covering genesAssess your response to 45+ drugs/drug classes
SUMMARY OF RESULTS
DISEASE / DRUG CLASS DRUGS FUNCTION OF GENE PRODUCT GENES
Normal Decreased Increased No function
CARDIOVASCULAR
DISEASES
Warfarin VKRORC1
Clopidogrel
Fluvastatin#
CYP2C9
CYP4F2
CYP2C19
SLCO1B1
CYP2D6
RYR1
RYR1
CodeinePAIN/ANTIEMETICS
ANESTHESIA Anesthetic
Agents
Succinylcholine
CYP2C19
CYP2B6
VoriconazoleINFECTIOUS
DISEASES / HIV
NEUROLOGY
Efavirenz
Phenytoin CYP2C9
SUMMARY OF RESULTS
# CPIC recommendation for Simvastatin.
Red slider indicates variant detected in only one allele.
DISEASE / DRUG CLASS DRUGS FUNCTION OF GENE PRODUCT GENES
Normal Decreased Increased
ONCOLOGY Fluoropyrimidines
(5-FU, capecitabine)
Tamoxifen
Irinotecan
Interferon
Thiopurines
(azathioprine,
mercaptopurine,
thioguanine)
DPYD
CYP2D6
UGT1A1
IFNL3
NUDT15
TPMT
CYP2C19
CYP2D6
CYP2C19
Selective
Serotonin,
Reupdate
Inhibitors
(citalopram,
escitalopram,
fluvoxamine,
paroxetine,
sertraline)
Tricyclic
Antidepressants
(amitriptyline,
clomipramine,
desipramine,
doxepin,
imipramine,
nortriptyline,
trimipramine
PSYCHIATRY
CYP3A5
G6PD
TacrolimusTRANSPLANT
OTHERS Rasburicase
No function
CARDIOVASCULAR DISEASES
RESULT INTERPRETATION
What is CYP4F2 and its relevance?
This gene encodes a member of the cytochrome P450 superfamily of enzymes.
This gene is part of a cluster of cytochrome P450 genes on chromosome 19.
The cytochrome P450 proteins are monooxygenases which catalyze many
reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids and involved in the metabolism of various endogenous
substrates, including fatty acids, eicosanoids, and vitamins. The enzyme starts
the process of inactivating and degrading leukotriene B4, a potent mediator
of inflammation.
How does the variation above affect your drug response?
Warfarin is an anticoagulant used to treat blocks in blood vessels. Studies have
also demonstrated that carriers of the CYP4F2*3 variant allele have a reduced
capacity to metabolize vitamin K, and therefore, a higher warfarin dose was
required to elicit the same anticoagulant response. Individuals with the CT
genotype who are treated with warfarin may require a lower dose as compared
to patients with the TT genotype[8, 9]. Other genetic and clinical factors may
also influence a patient’s required warfarin dose. All changes in medications
must be done under clinical supervision.
GENE DRUGCPIC ALLELE
NAME (rsID)
REFERENCE
GENOTYPE
VARIANT
GENOTYPE
YOUR
GENOTYPE
CHROMOSOME
POSITION (hg19)
MARKER ID
(dbSNP ID)
CYP4F2 Warfarin *3 C T C T chr19:15990431 rs2108622
CYP2C19 Clopidogrel *17 C T C T chr10:96521657 rs12248560
RESULT INTERPRETATION
What is CYP2C19 and its relevance?
The CYP2C19 gene is a member of the cytochrome P450 gene family and
provides instructions for making an enzyme that is found primarily in liver cells
in a cell structure called the endoplasmic reticulum, which is involved in protein
processing and transport. The CYP2C19 enzyme plays a role in the processing
or metabolizing of a drug called clopidogrel (also known as Plavix) which
prevents blood cells called platelets from sticking together (aggregating) and
forming blood clots. The CYP2C19 enzyme converts clopidogrel to its active form,
which is necessary for the drug to function in the body. The active drug then
stops (inhibits) a receptor protein known as P2RY12 that is found on the surface
of platelets. During clot formation, the P2RY12 receptor protein helps platelets
cluster together to form a clot to seal off damaged blood vessels and prevent
blood loss.
How does the variation above affect your drug response?
Clopidogrel is an anticoagulant that prevents platelet aggregation and
therefore, used to treat blocks in blood vessels. Individuals with CT genotype
(CYP2C19*17; rs12248560), carrying one functional allele plus one increased
function allele, may have increased activation of clopidogrel, resulting in an
increased risk of bleeding with clopidogrel and a decreased, but not absent,
risk for adverse cardiovascular events as compared to patients with a CC
genotype. CPIC recommends label recommended dosage and administration.
Other genetic and clinical factors may also influence a patient’s risk for
secondary cardiovascular events and response to clopidogrel[10].
INFECTIOUS DISEASES / HIV
RESULT INTERPRETATION
What is CYP2C19 and its relevance?
The CYP2C19 gene is a member of the cytochrome P450 gene family and
provides instructions for making an enzyme that is found primarily in liver cells
in a cell structure called the endoplasmic reticulum, which is involved in protein
processing and transport. The CYP2C19 enzyme plays a role in the processing
or metabolizing of a drug called clopidogrel (also known as Plavix) which
prevents blood cells called platelets from sticking together (aggregating) and
forming blood clots. The CYP2C19 enzyme converts clopidogrel to its active form,
which is necessary for the drug to function in the body. The active drug then
stops (inhibits) a receptor protein known as P2RY12 that is found on the surface
of platelets. During clot formation, the P2RY12 receptor protein helps platelets
cluster together to form a clot to seal off damaged blood vessels and prevent
blood loss.
How does the variation above affect your drug response?
Voriconazole is a triazole antifungal agent that inhibits ergosterol synthesis
by inhibiting lanosterol 14a-demethylase. Due to the interpatient variability
in voriconazole pharmacokinetics and to avoid the toxicity associated with
elevated concentrations and therapeutic failures with low concentrations,
voriconazole therapeutic drug monitoring (TDM) has been recommended.
Individuals with CT genotype (CYP2C19*17; rs12248560), carrying one functional
allele plus one increased function allele, are rapid metabolizers of
voriconazole. These individuals have increased metabolism of voriconazole
and are likely to have undetectable levels of the drug or lack of response as
compared to individuals with two functional alleles. CPIC recommends the
use of an alternative agent that is not dependent on CYP2C19 metabolism
as primary therapy in lieu of voriconazole. Such agents include isavuconazole,
liposomal amphotericin B, and posaconazole. For pediatric patients, CPIC
recommends initiating therapy with recommended standard case dosing.
Use therapeutic dose monitoring to titrate dose to therapeutic trough
concentrations[11]. Other genetic and clinical factors may also influence
voriconazole metabolism, response and adverse effects.
GENE DRUGCPIC ALLELE
NAME (rsID)
REFERENCE
GENOTYPE
VARIANT
GENOTYPE
YOUR
GENOTYPE
CHROMOSOME
POSITION (hg19)
MARKER ID
(dbSNP ID)
CYP2C19 Voriconazole *17 C T C T chr10:96521657 rs12248560
ONCOLOGY
RESULT INTERPRETATION
What is IFNL3 and its relevance?
IFNL3 encodes a cytokine distantly related to type I interferons and the IL-10
family. IFNL3, interleukin 28A (IL28A), and interleukin 29 (IL29) are three
closely related cytokine genes that form a cytokine gene cluster on a
chromosomal region mapped to 19q13. Cytokine has antiviral, antitumor and
immunomodulatory activities and plays a critical role in the antiviral host
defense, predominantly in the epithelial tissues. All three cytokines have
been shown to interact with a heterodimeric class II cytokine receptor that
consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor,
alpha (IL28RA). Expression of the cytokines encoded by the three genes can be
induced by viral infection.
How does the variation above affect your drug response?
Interferons are proteins produced by tumor cells or host cells that are infected
with viruses, bacteria and other unknown nucleic acids. Interferons also activate
other cells that serve as part of the immune system and destroy invading
pathogens. Individuals with CT genotype and Hepatitis C genotype 1 may have
decreased response (typically assayed as sustained virological response, SVR)
when administered peginterferon alpha 2a and/or 2b in combination with
ribavirin as compared to patients with the CC genotype[12]. CPIC recommends
to consider implications before initiating PEG-IFNα and RBV-containing
regimens. Other genetic and clinical factors may also influence a patient’s
response. All changes in medications must be done under clinical supervision.
GENE DRUGCPIC ALLELE
NAME (rsID)
REFERENCE
GENOTYPE
VARIANT
GENOTYPE
YOUR
GENOTYPE
CHROMOSOME
POSITION (hg19)
MARKER ID
(dbSNP ID)
IFNL3 Interferon rs12979860 C T C T chr19:39738787 rs12979860
PSYCHIATRY
RESULT INTERPRETATION
What is CYP2C19 and its relevance?
The CYP2C19 gene is a member of the cytochrome P450 gene family and
provides instructions for making an enzyme that is found primarily in liver cells
in a cell structure called the endoplasmic reticulum, which is involved in protein
processing and transport. The CYP2C19 enzyme plays a role in the processing
or metabolizing of a drug called clopidogrel (also known as Plavix) which
prevents blood cells called platelets from sticking together (aggregating) and
forming blood clots. The CYP2C19 enzyme converts clopidogrel to its active form,
which is necessary for the drug to function in the body. The active drug then
stops (inhibits) a receptor protein known as P2RY12 that is found on the surface
of platelets. During clot formation, the P2RY12 receptor protein helps platelets
cluster together to form a clot to seal off damaged blood vessels and prevent
blood loss.
How does the variation above affect your drug response?
Selective serotonin reuptake inhibitors (SSRIs) are primary treatment options
for major depressive and anxiety disorders. The more common adverse
effects induced by this drug class include central nervous system effects
(e.g., insomnia, headache), gastrointestinal dysfunction, and sexual dysfunction;
however, the incidence of side effect occurrence differs with each drug.
CYP2C19 polymorphisms can influence the metabolism of SSRIs, thereby
affecting drug efficacy and safety. Citalopram is a racemic mixture of R- and
S-enantiomers, with the pharmacologically active S-enantiomer marketed
as escitalopram. Citalopram and escitalopram are extensively metabolized
by CYP2C19 to compounds that confer less serotonin reuptake inhibition.
Because citalopram and escitalopram are extensively catalyzed by CYP2C19,
variations in CYP2C19 activity may result in altered drug exposure.
GENE DRUGCPIC ALLELE
NAME (rsID)
REFERENCE
GENOTYPE
VARIANT
GENOTYPE
YOUR
GENOTYPE
CHROMOSOME
POSITION (hg19)
MARKER ID
(dbSNP ID)
CYP2C19
Citalopram
or
Escitalopram
*17 C T C T chr10:96521657 rs12248560
CYP2C19 Amitriptyline *17 C T C T chr10:96521657 rs12248560
Individuals with CT genotype (CYP2C19*17; rs12248560), carrying one functional
allele plus one increased function allele are rapid metabolizers of citalopram
or escitalopram. These individuals may have increased metabolism when
compared to normal metabolizers and lower plasma concentrations will
increase probability of pharmacotherapy failure. CPIC recommends the
use of an alternative drug not predominantly metabolized by CYP2C19.
Other genetic and clinical factors may also influence citalopram or
escitalopram metabolism, response and adverse effects[13].
Tricyclic antidepressants (TCAs) are mixed serotonin and norepinephrine
reuptake inhibitors used to treat several disease states including depression,
obsessive-compulsive disorder, and neuropathic pain in addition to
migraine prophylaxis. Both amitriptyline and nortriptyline are used as
representative TCAs.
Individuals with CT genotype (CYP2C19*17; rs12248560), carrying one functional
allele plus one increased function allele are rapid metabolizers, and
therefore, have an increased metabolism of tertiary amines compared to
normal metabolizers. CPIC recommends avoiding tertiary amine use due
to potential for sub-optimal response. Consider an alternative drug not
metabolized by CYP2C19. TCAs without major CYP2C19 metabolism include
the secondary amines nortriptyline and desipramine. If a tertiary amine is
warranted, utilise therapeutic drug monitoring to guide dose adjustments.
Other genetic and clinical factors may also influence a patient’s response
to amitriptyline[14].
All changes in medications must be done under clinical supervision.
TRANSPLANT
RESULT INTERPRETATION
What is CYP3A5 and its relevance?
Protein encoded by CYP3A5 metabolizes drugs as well as the steroid hormones
testosterone and progesterone.
Variations in the CYP3A5 gene can lead to a difference in response to certain
class of drugs called immunosuppressants.
How does the variation above affect your drug response?
Tacrolimus is the mainstay immunosuppressant drug used after solid organ
and hematopoietic stem cell transplantation. Individuals who express CYP3A5
CC (rs776746) genotype are poor metabolizers, with two non-functional allele.
Patients with the CC (*3/*3) genotype and recipients of kidney or hematopoietic
stem cell transplant, being poor metabolizers, do not metabolize, CYP3A
substrates such as tacrolimus as rapidly as patients with CT (*1/*3 ) or TT (*1/*1)
genotypes and therefore the standard dose of tacrolimus is sufficient to
prevent graft rejection. CPIC recommends initiating therapy with standard
recommended dose and use therapeutic drug monitoring to guide dose
adjustments. Other genetic and clinical factors may also influence a patient’s
tacrolimus dose requirements[15].
GENE DRUGCPIC ALLELE
NAME (rsID)
REFERENCE
GENOTYPE
VARIANT
GENOTYPE
YOUR
GENOTYPE
CHROMOSOME
POSITION (hg19)
MARKER ID
(dbSNP ID)
CYP3A5 Tacrolimus *3 C T C C chr7:99270539 rs776746
LIMITATIONS
◼ We have assayed here for only alleles recommended by CPIC for
prescribing action
◼ Onlythealleleswithrelevantvariationshavebeenshowninthereport.
Please refer to the complete list of variants given in appendix 1.
◼ Theremaybeothergenesaffectingdrugresponsewhichhavenotbeen
assayed here
◼ Therecommendationsarebasedonguidelinesandresearchliterature.
This report does not provide a prescription. All changes in medication
must be made only after consulting a trained medical practitioner
USEFULNESS OF THIS REPORT
◼ Youmay share itwith your clinician if you are prescribedwith any of
these drugs
◼ Can be referred pre/post-surgery and management specifically with
reference to use of anesthetics
◼ We have assayed here for only alleles recommended by CPIC for
prescribing action
◼ Thisreportdoesnotprovideanydiagnosisoropinionorrecommendany
cure in any manner
GUIDELINES LEVERAGED FOR ANALYSIS
The Clinical Pharmacogenetics Implementation Consortium (CPIC(7)) is an
international consortium that facilitates clinical implementation of
pharmacogenetic tests through published gene/drug clinical practice
guidelines. CPIC clinical guidelines are endorsed by American Society of
Health System Pharmacists (ASHP) and American Society for Clinical
Pharmacology and Therapeutics (ASCPT).
This Pharmacogenomic profile has been assessed based on recommendations
of the Clinical Pharmacogenetics Implementation Consortium, CPIC, as
updated on March 7, 2019. Gene and disease coverage will change as per
recommendations and research advancements/reports.
Please consult your treating physician before making any changes in your
ongoing medication.
Test Procedure for Drug Response
Saliva DNA Extraction Sequencing /NGS-Analysis
Reporting
DISCLAIMERS
◼ Interpretationofvariantsinthisreportisperformedtothebestknowledgeofthelaboratorybasedontheinformationavailableatthetimeofreporting.
The classification of variants can change over time and we cannot be held responsible for this. Please feel free to contact us in the future to determine
if there have been any changes in the classification of any variants. Re-analysis of variants in previously issued reports considering new evidence is not
routinely performed, but may be available upon request.
◼ ThesensitivityoftheTargetedgenesequencingassaytodetectlargedeletions/duplicationsofmorethan10bporcopynumbervariations(CNV)is70-75%.
The CNVs detected have to be confirmed by alternate method.
◼ Duetoinherenttechnologylimitationsoftheassay,notallbasesofthetargetedregioncanbecoveredbythistest.Accordingly,variantsinregionsof
insufficient coverage may not be identified and/or interpreted. Therefore, it is possible that pathogenic variants are present in one or more of the genes
analyzed but have not been detected. The variants not detected by the assay that was performed may impact the phenotype.
◼ Genes with pseudogenes, paralog genes and genes with low complexity may have decreased sensitivity and specificity of variant detection and
interpretation due to inability of the data and analysis tools to unambiguously determine the origin of the sequence data in such regions.
◼ Inaveryfewcases,genetictestmaynotshowthecorrectresults,e.g.,becauseofthequalityofthesampleprovidedtous.Incasewhereanytestprovided
by us fails for unforeseeable or unknown reasons that cannot be influenced by us in advance, we shall not be responsible for the incomplete, potentially
misleading, or even wrong result of any testing if such could not be recognised by us in advance.
◼ Thisisalaboratorydevelopedtestandthedevelopmentandtheperformancecharacteristicsofthistestwasdeterminedbyus.
◼ Allchangesinmedications,dosingoralternativesmustbedoneuponphysicianconsultation.Changeinmedicationordoseofmedicinewithoutclinical
supervision is not recommended.
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Genes Alleles Genes Alleles Genes Alleles Genes Alleles Genes Alleles
CYP2B6 *12 CYP2C9 *29 DPYD c.2872A>G G6PD Mexico City RYR1 c.1597C>T
CYP2B6 *13 CYP2C9 *3 DPYD c.2933A>G G6PD Minnesota RYR1 c.1654C>T
CYP2B6 *16 CYP2C9 *30 DPYD c.295_298delTACT (*7) G6PD Montpellier RYR1 c.1840C>T
CYP2B6 *18 CYP2C9 *33 DPYD c.2983G>T (*10) G6PD Mt Sinai RYR1 c.1841G>T
CYP2B6 *19 CYP2C9 *35 DPYD c.601A>C G6PD Murcia Oristano RYR1 c.487C>T
CYP2B6 *20 CYP2C9 *37 DPYD c.61C>T G6PD Namouru RYR1 c.488G>T
CYP2B6 *22 CYP2C9 *38 DPYD c.632A>G G6PD Nankang RYR1 c.6487C>T
CYP2B6 *26 CYP2C9 *39 DPYD c.703C>T (*8) G6PD Nanning RYR1 c.6502G>A
CYP2B6 *34 CYP2C9 *42 DPYD c.868A>G G6PD Nashville RYR1 c.6617C>G
CYP2B6 *35 CYP2C9 *43 G6PD 202G>A_376A>G_1264C>G G6PD Neapolis RYR1 c.6617C>T
CYP2B6 *36 CYP2C9 *44 G6PD A202A_376G G6PD Orissa RYR1 c.7007G>A
CYP2B6 *37 CYP2C9 *45 G6PD Aachen G6PD Pawnee RYR1 c.7048G>A
CYP2B6 *38 CYP2C9 *46 G6PD Acrokorinthos G6PD Puerto Limon RYR1 c.7063C>T
CYP2B6 *6 CYP2C9 *50 G6PD Alhambra G6PD Rehevot RYR1 c.7124G>C
CYP2B6 *7 CYP2C9 *52 G6PD Ananindeua G6PD Riverside RYR1 c.7282G>A
CYP2B6 *8 CYP2C9 *55 G6PD Andalus G6PD Serres RYR1 c.7300G>A
CYP2B6 *9 CYP2C9 *6 G6PD Asahi G6PD Shenzen RYR1 c.7304G>A
CYP2C19 *10 CYP2C9 *61 G6PD Aveiro G6PD Sibari RYR1 c.7354C>T
CYP2C19 *16 CYP2D6 *2x2 G6PD Bajo Maumere G6PD Sinnai RYR1 c.7360C>T
CYP2C19 *17 CYP2D6 *2x2 G6PD Bangkok Noi G6PD Split RYR1 c.7361G>A
CYP2C19 *19 CYP2D6 *2xN G6PD Beverly Hills G6PD Surabaya RYR1 c.7372C>T
CYP2C19 *2 CYP2D6 *3 G6PD Canton G6PD Taipei‚ Chinese3 RYR1 c.7373G>A
CYP2C19 *22 CYP2D6 *44 G6PD Chatham G6PD Tomah RYR1 c.7522C>G
CYP2C19 *24 CYP2D6 *5 G6PD Chinese5 G6PD Union RYR1 c.7522C>T
CYP2C19 *25 CYP2D6 *50 G6PD Cincinnati G6PD Vancouver RYR1 c.7523G>A
CYP2C19 *26 CYP2D6 *7 G6PD Coimbra Shunde G6PD Viangchan RYR1 c.9310G>A
CYP2C19 *3 CYP2D6 *9 G6PD Cosenza IFNL3 rs12979860 variant (T) SLCO1B1 *15
CYP2C19 *35 CYP3A5 *3 G6PD G6PD A 680T_376G NUDT15 *2 SLCO1B1 *17
CYP2C19 *4 CYP3A5 *6 G6PD G6PD A968C_376G NUDT15 *3 SLCO1B1 *5
CYP2C19 *5 CYP3A5 *7 G6PD Gaohe RYR1 c.1021G>A TPMT *11
CYP2C19 *6 CYP4F2 *3 G6PD Guadalajara RYR1 c.1021G>C TPMT *14
CYP2C19 *7 DPYD c.1057C>T G6PD Harilaou RYR1 c.103T>C TPMT *15
CYP2C19 *8 DPYD c.1156G>T (*12) G6PD Hechi RYR1 c.11969G>T TPMT *2
CYP2C19 *9 DPYD c.1314T>G G6PD Lerapetra RYR1 c.1201C>T TPMT *23
CYP2C9 *13 DPYD c.1475C>T G6PD Ilesha RYR1 c.1209C>G TPMT *29
CYP2C9 *14 DPYD c.1484A>G G6PD Iowa RYR1 c.130C>T TPMT *3B
CYP2C9 *15 DPYD c.1679T>G (*13) G6PD Kaiping RYR1 c.14387A>G TPMT *3C
CYP2C9 *16 DPYD c.1775G>A G6PD KalyanKerala RYR1 c.14477C>T TPMT *4
CYP2C9 *2 DPYD c.1777G>A G6PD Lagosanto RYR1 c.14497C>T TPMT *41
CYP2C9 *23 DPYD c.1898delC (*3) G6PD Loma Linda RYR1 c.14512C>G UGT1A1 *27
CYP2C9 *24 DPYD c.1905+1G>A (*2A) G6PD Mahidol RYR1 c.14545G>A UGT1A1 *6
CYP2C9 *25 DPYD c.2021G>A G6PD Malaga RYR1 c.14693T>C VKORC1 rs9923231 variant (T)
CYP2C9 *26 DPYD c.2279C>T G6PD Mediterranean RYR1 c.1565A>C
CYP2C9 *28 DPYD c.2639G>T G6PD Metaponto RYR1 c.1589G>A
APPENDIX-1
Genessense, C/o. MedGenome Labs Ltd., 3rd Floor, Narayana Nethralaya BuildingNarayana Nethralaya City, #258/A, Bommasandra, Hosur Road, Bangalore-560 099
Phone: 1800 103 7590
Email: [email protected]
Website: www.genessense.com
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