View
3
Download
0
Category
Preview:
Citation preview
ISPM Labs d/b/a Capstone Diagnostics8601 Dunwoody Pl, Ste 444 • Atlanta GA 30350 Phone: (678) 515-4524 • Fax: (470) 355-5462 Laboratory Director: John Hanson, PhDCLIA ID Number: 11D2073885http://www.capstonediagnostics.com
This report combines (i) an analysis of the patient’s DNA by ISPM Labs d/b/a Capstone Diagnostics, identifying relevant genetic variants that are informative
for medication efficacy, safety, and dosing, with (ii) an interpretation of the identified DNA variants by Coriell Life Sciences to bring you immediately
actionable clinical guidance regarding safer and more effective medications and dosages for the patient.
P atient: Doe, Jane
Date of Birth: Jan 01, 1990
Gender: F emale
Ph ysician: Dr . Example
Pr actice: Example Health Associates
Specimen type: Buccal swab
Sample ID: e x222
GeneDose Live
Individualized, additional therapeutic decision support
information based on Jane Doe's genetics, drug regimen,
indications, demographics, and lifestyle indicators are
available at GeneDose Live via this secured URL:
https://alpha.genedose.com?token=prompt
GeneDose Key: ACAZPCM6PSample ID: ex222
Table of Contents
Genetic Summary Information
Pg. 1Genetic Summary
Pg. 3Current Regimen Risk Chart
Pg. 4Current Regimen Risk Detail (by severity)
Pg. 6Thrombosis Profile
Pg. 7ApoE Genotype Information
Pg. 8Medications Summary
Pg. 11Medication Report Details (by therapeutic class)
Pg. 26References
Pg. 27Patient Information Card
AppendixSNP Report
† When multiple activities are listed, check information in MedicationReport Details (Pg. 11) for specific medication of interest.Uncertain = No known diplotype/result (name) or activity for thiscombination of genetic variants; Uninterpretable Genotype.
Genetic Summary
Gene Result Activity †
ApoE ɛ3|ɛ3 See ApoE Genotype Info.
CYP2C19 *8|*8 Poor metabolizer
CYP2C9 *1|*1 Extensive metabolizer
CYP2D6 *1|*1x2 Ultrarapid metabolizer
CYP3A4 *1B|*1B Ultrarapid metabolizer
CYP3A5 *1A|*1A; or*1A|*1D; or
Extensive metabolizer
6P C|C n/a
Factor V Leiden Variant See thrombosis profile
HLA-B*1502 WT|WT WT
MTHFR (A1298C) Variant See thrombosis profile
MTHFR (C677T) Variant See thrombosis profile
Prothrombin (F2) Normal See thrombosis profile
K1 A|T Altered Activity
K C|C Normal Activity
T 2A
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 1 of 26
ANKK1 *8|*8 Poor metabolizer
ATM *8|*8 Poor metabolizer
ABCB1 *1|*36 Altered Activity
CYP1A2 *8|*8 Uncertain
CYP2B6 *8|*8 Poor metabolizer
C|C Normal Activity
Gene Result Activity †
HTR2C A|A Uncertain
IFNL3 1|*2 Altered function
GeneDose Genetic Response Report
1805070061 - Reported May 10, 2018
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 2 of 25
OPRM1 *1|*1 Extensive Metabolizer
SLC6A4 *1|*28 Normal function
SLCO1B1 *1|*1 Normal liver uptakeactivity
VKORC1 *1|*2 Reduced (with respect toWarfarin)
Current Regimen Risk Chart
0 to 5 - Few risks; 6 to 20 - Moderate risk; 20+ - Significant risk
Genetic Drug interaction Anticholinergic burden LifestyleADR (Black box)
Epitol, Tegretol (Carbam…
Codeine
Zoloft (Sertraline)
BRIVIACT (Brivaracetam)
Folicet (Folic Acid)
Absorica, Accutane, Am…
0 5 10 15 20 25 30 35
This chart summarizes the various risk factors associated with each medication entered into GeneDose™ Live for Jane Doe. The length of each colored segment
represents the relative contribution of a risk category (detailed in the below legend) to the overall risk associated with the use of a medication. For further
information, consult the Current Regimen Risk Details Pg. 3 section.
For further assistance in choosing alternative medications to reduce this patient’s risk, use the modeling tool at https://alpha.genedose.com?token=prompt.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 2 of 26
Current Regimen Risk Detail
Severe Risks
Strong regimen anticholinergic burden
Major Risks
Genetic warning for Zoloft (Sertraline)
Genetic warning for Codeine
BRIVIACT (Brivaracetam) has its effect decreased by, and increases effect of Epitol, Tegretol (Carbamazepine)
• monitor for signs of drug toxicity
• monitor for altered clinical response to drug therapy
• warn against driving or operating machinery or performing other hazardous tasks until drug effects are known
• dosage reduction may be required
Moderate Risks
Epitol, Tegretol (Carbamazepine) may decrease concentration of Codeine
• use combination with caution
• monitor for altered clinical response to drug therapy
• adjust drug dosage
Epitol, Tegretol (Carbamazepine) reduces effect of Zoloft (Sertraline)
• use combination with caution
The cumulative effect of taking multiple medicines with anticholinergic properties termed as anticholinergic burden can
adversely impact cognition, physical function and increase the risk of mortality.
Individuals with poor metabolizer status may have higher plasma concentrations and decreased clearance. Reduce dose by
50%.
For analgesia, select alternative drug (e.g. acetaminophen, NSAID, morphine; not tramadol or oxycodone). Be extra alert to
adverse drug events due to increased morphine plasma concentration.
Coadministration with carbamazepine may increase exposure to the active metabolite of carbamazepine, carbamazepine-
epoxide. A 26% decrease in the plasma concentration of brivaracetam has also been observed during co-administration.
Inducers of CYP3A4 such as carbamazepine, may induce the hepatic metabolism of opiate agonists, which may lead to opiate
withdrawal or inadequate pain control. Clinicians should be alert to changes in the effect of the opioid agonist.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 3 of 26
• monitor patient clinically
Minor Risks
Codeine has its effect reduced by Zoloft (Sertraline)
• use combination with caution
• monitor patient clinically
Sertraline is a substrate for CYP3A4 and CYP2C19. Drugs that induce hepatic isoenzymes, such as carbamazepine could
decrease sertraline plasma concentrations, potentially causing decreased effectiveness of sertraline.
The activity of codeine is due to its conversion to morphine via the cytochrome P450 CYP2D6 hepatic isoenzyme. The
analgesic activity of codeinemay be reduced when it is combined with drugs that inhibit CYP2D6, such as sertraline.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 4 of 26
Thrombosis Profile
Tested Genes (Alleles) Genotype Predicted Phenotype Clinical Guidance
Prothrombin (F2) Normal
Factor V Leiden Homozygous
variant
MTHFR (A1298C) Homozygous
variant
MTHFR (C677T) Homozygous
variant
Variant alleles detected. It is
important for individuals
possessing this allelic variant
to understand the clinical
risks and the genetic
implications of their result.
Patients should be
counseled by their physician
or genetic counselor
Individuals homozygous for the Factor V Leiden
mutation have an approximately 80-fold increased
risk of venous thrombosis as compared to
individuals without the mutation. Patients who
are homozygous for either MTHFR variant may
have a further increased risk for venous
thrombosis if they also possess the Factor V
Leiden 1691A allele.
General Description
References and Useful Information:
• Factor V Leiden Working Group; ACMG Laboratory Quality Assurance Molecular Subcommittee of the ACMG Laboratory Quality Assurance
Committee AMERICAN COLLEGE OF MEDICAL GENETICS; Standards and Guidelines for Clinical Genetics Laboratories; 2006 Edition
◦ Middeldorp S, Henkens CM, Koopman MM, van Pampus ECM,Hamulyák K, van der Meer J, Prins MH, Büller HR. The incidence of venous
thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med 1998;128:15-20.
◦ Vandenbroucke JP, Koster T, Briet E, Reitsma PH, Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral contraceptive users
who are carriers of factor V Leiden mutation. Lancet 1994;344:1453-1457.
◦ Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated
protein C resistance). Blood 1995;85(6):1504-1508.
◦ Reich LM, Bower M, Key NS. Role of the geneticist in testing and counseling for inherited thrombophilia. Genet Med 2003;5:133-143.
◦ Tosetto A, Rodeghiero F, Martinelli I, De Stefano V, Missiaglia E, Chiusolo P, Mannucci PM. Additional genetic risk factors for venous
thromboembolism in carriers of the factor V Leiden mutation. Br J Haematol 1998;103:871-876.
◦ De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli I, Rossi E, Leone G. The risk of recurrent deep venous thrombosis
among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999;341:801-806.
• M. Adams, P.D. Smith, D. Martin, J.R. Thompson, D. Lodwick, N.J. Samani. Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk
factor for myocardial infarction. QJM. 1996 Jun;89(6):437-44.
Genetic analyses of three genes (four alleles) considered to increase the risk for venous thrombosis were performed using molecular genetic
techniques. The presence of the Prothrombin (Factor 2) gene allele 20210A and Factor V Leiden allele 1691A are risk factors for venous
thrombosis. This risk may be further increased by the use of estrogen therapy, oral contraceptives, pregnancy, and surgery.
Patients who are homozygous for MTHFR 677T or MTHFR 1298C may have a further increased risk for venous thrombosis if they also possess
the Factor V Leiden 1691A allele. However the MTHFR alleles alone do not predict a significant risk for venous thrombosis.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 5 of 26
ApoE Genotype Information†
Tested Genes (Alleles) Genotype Predicted Phenotype Clinical Guidance
ApoE (ɛ2, ɛ3, ɛ4) ɛ3|ɛ3 Often associated with
normal lipid metabolism.
Typical cardiovascular disease risk expected.
General Description
Genetic analysis in the ApoE gene was performed using molecular genetic techniques. The genotype is based on genotyping results for this
patient at SNPs rs429358 and rs7412.
ApoE ɛ3 is the most common allele—found in about 60% of people. The presence of ɛ2 or ɛ4 alleles may be a risk factor for multiple conditions
including cardiovascular disease. ApoE ɛ2 carriers may be more likely to develop familial dysbetalipoproteinemia or type III
hyperlipoproteinemia.
† Predicted phenotype, clinical significance, relative risk, and interpretations reported for each genotype are associated with cardiovascular risk
only. The interpretations should not be used to determine the relative risk of other diseases. Other factors important to understanding total risk
should be considered.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 6 of 26
Medication Summary (more alternatives discoverable at GeneDose Live)Secured URL: https://alpha.genedose.com/?token=ACAZPCM6P
Cardiac
Therapeutic Class Standard Precautions Caution / Info Change recommended
Antiarrhythmics
Anticoagulants
Anticonvulsants
Antiplatelet Agents
Beta Blockers
Statins
Gastroenterology
Therapeutic Class Standard Precautions Caution / Info Change recommended
Antidepressants
Immunosuppressants
Nonsteroidal Anti-
Inflamatory Drugs
(NSAIDs)
Proton Pump
Inhibitors (PPIs)
Selective Serotonin
Reuptake Inhibitors
(SSRIs)
Flecainide
Propafenone
Acenocoumarol Warfarin
Phenytoin
Ticagrelor Clopidogrel
Carvedilol Metoprolol
Simvastatin Atorvastatin
Mirtazapine Amitriptyline
Clomipramine
Desipramine
Doxepin
Nortriptyline
Trazodone
Azathioprine
Mercaptopurine
Thioguanine
Cyclosporine
Celecoxib
Dexlansoprazole
Esomeprazole
Lansoprazole
Omeprazole
Pantoprazole
Rabeprazole
Citalopram
Paroxetine
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 7 of 26
Infectious Disease
Therapeutic Class Standard Precautions Caution / Info Change recommended
Antifungals
Pain
Therapeutic Class Standard Precautions Caution / Info Change recommended
Anticonvulsants
Antidepressants
Antipsychotics
Immunosuppressants
Muscle Relaxants
Nonsteroidal Anti-
Inflamatory Drugs
(NSAIDs)
Opioids
Selective Serotonin
Reuptake Inhibitors
(SSRIs)
Psychotropic
Therapeutic Class Standard Precautions Caution / Info Change recommended
Anti-ADHD Agents
Anticonvulsants
Voriconazole Ketoconazole
Carbamazepine
Phenytoin
Clobazam
Duloxetine
Flupenthixol
Mirtazapine
Moclobemide
Amitriptyline
Clomipramine
Desipramine
Doxepin
Nortriptyline
Protriptyline
Trazodone
Venlafaxine
Vortioxetine
Olanzapine
Azathioprine
Mercaptopurine
Cyclosporine
Tacrolimus
Carisoprodol
Celecoxib
Diclofenac
Flurbiprofen
Meloxicam
Oxycodone (CYP3A5) Buprenorphine
Codeine
Oxycodone
Tramadol
Citalopram
Fluoxetine
Paroxetine
Sertraline
Atomoxetine
Carbamazepine
Phenytoin
Clobazam
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 8 of 26
Psychotropic
Therapeutic Class Standard Precautions Caution / Info Change recommended
Antidementia
Agents
Antidepressants
Antipsychotics
Anxiolytics
Hypnotics
Selective Serotonin
Reuptake Inhibitors
(SSRIs)
Other Drugs
Therapeutic Class Standard Precautions Caution / Info Change recommended
Anticoagulants
Antidiabetics
Cholinergic Agonists
Immunosuppressants
Selective Serotonin
Reuptake Inhibitors
(SSRIs)
Donepezil
Duloxetine
Flupenthixol
Mirtazapine
Moclobemide
Amitriptyline
Clomipramine
Desipramine
Doxepin
Nortriptyline
Protriptyline
Trazodone
Venlafaxine
Vortioxetine
Aripiprazole
Clozapine
Olanzapine
Haloperidol
Quetiapine
Risperidone
Thioridazine
Zuclopenthixol
Alprazolam
Buspirone
Clonazepam
Eszopiclone
Citalopram
Fluoxetine
Paroxetine
Sertraline
Warfarin
Glibenclamide
Gliclazide
Glimepiride
Tolbutamide
Saxagliptin
Cevimeline
Sirolimus
Escitalopram
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 9 of 26
Legend Clinical Evidence Level
Typical response is expected Additional information available Strong
Change recommended Response is uncertain Moderate
Consider alternative therapy Emerging
Medication Report Details (by therapeutic class)
Drug Finding Recommendation Concern Evidence
Anti-ADHD Agents
Atomoxetine
(Strattera)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism; the resultant lower plasma
concentrations may increase the probability of
pharmacotherapy failure. However, there is insufficient
evidence to allow calculation of dose adjustment. Be alert
to reduced efficacy or select alternative drug (e.g.,
methylphenidate, clonidine).
Efficacy
Antiarrhythmics
Flecainide
(Tambocor)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have the
potential for increased elimination. Record ECG and
monitor plasma concentration or select alternative drug
(e.g. sotalol, disopyramide, quinidine, amiodarone).
Efficacy
Propafenone
(Rythmol)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to less active compounds; the
resultant decreased plasma concentrations may increase
the risk of pharmacotherapeutic failure. Insufficient
evidence to allow calculation of dose adjustment. Adjust
dose in response to plasma concentration and record ECG
or select alternative drug (e.g. sotalol; disopyramide;
quinidine; amiodarone).
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 10 of 26
Drug Finding Recommendation Concern Evidence
Anticoagulants
Acenocoumarol
(Sintrom, Acitrom)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Warfarin
(Coumadin)
Multigenic:
VKORC1, CYP2C9:
Two alleles showing
normal activity.;
Extensive metabolizer.
Two alleles showing
normal activity.
Individuals with this combination of alleles may benefit
from an increased dose of Warfarin. The FDA table
recommends a therapeutic dose of 5-7 mg/day.
Warfarin
(Coumadin)
Multigenic:
CYP2C9, VKORC1,
CYP4F2:
Extensive metabolizer.
Two alleles showing
normal activity.; Two
alleles showing normal
activity.; Normal
function. Two alleles
with normal activity.
Individuals with this combination of alleles may benefit
from a standard therapeutic dose of warfarin. Consider a
regimen of 4.1-5.9 mg/day (29-41 mg/week).
ADR &
Efficacy
Anticonvulsants
Carbamazepine
(Tegretol)
HLA-B*1502:
Negative; Absence of
*15:02 alleles.
Typical response is expected; no additional therapeutic
recommendations. Individuals with no variant alleles
detected are at "normal" or reduced risk of
carbamazepine-associated cutaneous adverse reactions.
Clobazam
(Onfi)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status may be at an
increased risk of adverse drug reaction due to the
presence of higher concentrations of clobazam's active
metabolite. Consider reducing the initial dose. The FDA
approved labeling text for ONFI states that "For this
reason, the initial dose in patients known to be CYP2C19
poor metabolizers should be 5 mg/day. These patients
should be titrated initially to 10-20 mg/day, and may be
titrated further to a maximum daily dose of 40 mg if
tolerated."
ADR
Phenytoin
(Dilantin)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 11 of 26
Drug Finding Recommendation Concern Evidence
Antidementia Agents
Donepezil CYP2D6: *1|*1x2 Typical response is expected; no additional therapeutic
recommendations.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 12 of 26
Drug Finding Recommendation Concern Evidence
Antidepressants
Amitriptyline
(Elavil)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of amitriptyline to less active
compounds; the resultant lower plasma concentrations will
increase the probability of pharmacotherapy failure. Select
an alternative drug or consider increasing the
recommended starting dose.
Efficacy
Clomipramine
(Anafranil)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to less active compounds; the
resultant lower plasma concentrations may increase the
probability of pharmacotherapy failure. Select alternative
drug (e.g. citalopram; sertralin) or monitor (desmethyl)
clomipramine plasma concentration.
Efficacy
Desipramine
(Norpramin)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of tricyclic antidepressants; the
resultant lower plasma concentrations may increase the
probability of pharmacotherapy failure. Select an
alternative drug or consider increasing the recommended
starting dose.
Efficacy
Doxepin
(Deptran)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to less active compounds. Lower
plasma concentrations will increase the probability of
pharmacotherapy failure. Select alternative drug
(citalopram, sertraline) or increase dose by 100%. Adjust
maintenance dose in response to (nor)doxepin plasma
concentration.
Efficacy
Duloxetine
(Cymbalta)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Flupenthixol CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 13 of 26
Drug Finding Recommendation Concern Evidence
Imipramine
(Tofranil)
Multigenic:
CYP2C19, CYP2D6:
Poor metabolizer. Two
null alleles likely
showing little or no
activity. Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Multiple results from uncorrelated genes.
CYP2C19: Potential dosage adjustment or alternate drug
suggested CYP2D6: Consider alternative therapy
Mirtazapine CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Moclobemide CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Typical response is expected; no additional therapeutic
recommendations.
Nortriptyline
(Pamelor)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of tricyclics to less active
compounds when compared to extensive metabolizers; the
resultant lower plasma concentrations will increase
probability of pharmacotherapy failure. Consider
alternative therapy--select alternative drug (e.g.
citalopram, sertraline) or increase dose by 60% and
monitor nortriptyline 10-hydroxynortriptyline plasma
concentrations.
Efficacy
Protriptyline
(Vivactil)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of tricyclic antidepressants; the
resultant lower plasma concentrations may increase the
probability of pharmacotherapy failure. Select an
alternative drug or consider increasing the recommended
starting dose.
Efficacy
Trazodone
(Oleptro, Desyrel)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of trazodone; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
monitor patient for a need to increase the dose.
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 14 of 26
Drug Finding Recommendation Concern Evidence
Venlafaxine
(Effexor)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Be alert to decreased venlafaxine and increased (O-
desmethyl) venlafaxine plasma concentration. Titrate dose
to a maximum of 150% of the normal dose or select
alternative drug (e.g. citalopram, sertraline).
Vortioxetine
(Brintellix)
CYP2D6: *1|*1x2 Individuals with ultrarapid metabolizer status have
increased clearance of vortioxetine; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Consider increasing the dose.
Efficacy
Antidiabetics
Glibenclamide
(Glyburide)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Gliclazide CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Glimepiride CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Saxagliptin
(Onglyza)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of saxagliptin; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
monitor patient for efficacy and adjust dose appropriately.
Efficacy
Tolbutamide
(Orinase)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 15 of 26
Drug Finding Recommendation Concern Evidence
Antifungals
Ketoconazole
(Nizoral)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of ketoconazole; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Ketoconazole is not
recommended.
Efficacy
Voriconazole CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Individuals with poor metabolizer status may have higher
voriconazole exposure. Adjust the dose and monitor for
adverse events or lack of efficacy.
ADR &
Efficacy
Antiplatelet Agents
Clopidogrel
(Plavix)
CYP2C19: Poor
metabolizer. Two
alleles showing
reduced activity.
Individuals with poor metabolizer status are at an
increased risk of therapeutic failure due to reduced
activation of the prodrug and low plasma concentrations of
the active compound. Clopidogrel is not recommended.
Efficacy
Ticagrelor
(Brilinta)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status may be at an
increased risk of adverse drug reactions and decreased
efficacy due to reduced metabolism of the prodrug to the
active metabolite. Insufficient evidence to allow
calculation of dose adjustment. Consider alternative drug.
ADR &
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 16 of 26
Drug Finding Recommendation Concern Evidence
Antipsychotics
Aripiprazole
(Abilify)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Clozapine CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Haloperidol
(Haldol)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to less active compounds; the
resultant decreased plasma concentrations may increase
the probability of pharmacotherapy failure. Insufficient
evidence to allow calculation of dose adjustment. Monitor
and adjust maintenance dose in response to haloperidol
plasma concentration or select alternative drug (e.g.
pimozide; flupenthixol; fluphenazine; quetiapine;
olanzapine; clozapine).
Efficacy
Olanzapine
(Zalasta, Zyprexa)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Quetiapine
(Seroquel)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased clearance of quetiapin; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
consider increasing the recommended starting dose.
Efficacy
Risperidone
(Risperdal)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Insufficient evidence to allow calculation of dose
adjustment. Select alternative drug (e.g. quetiapine,
olanzapine, clozapine) or be extra alert to decreased
response and titrate dose in response to clinical effect and
adverse drug events.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 17 of 26
Drug Finding Recommendation Concern Evidence
Thioridazine CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status may be at
risk of reduced efficacy due to increased metabolism of
thioridazine. Select an alternative drug or consider
increasing the recommended starting dose.
Efficacy
Zuclopenthixol CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to less active compounds; the
resultant decreased plasma concentrations may increase
the probability of pharmacotherapy failure. Insufficient
evidence to allow calculation of dose adjustment. Be alert
to low zuclopenthixol plasma concentrations or select
alternative drug (e.g. flupenthixol, quetiapine, olanzapine,
clozapine).
Efficacy
Anxiolytics
Alprazolam
(Xanax, Niravam)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of alprazolam; the resultant lower
plasma levels may increase the probability of
pharmacotherapy failure. Select an alternative drug or
consider increasing the recommended starting dose.
Efficacy
Buspirone
(Buspar)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of buspirone; the resultant lower
plasma levels may increase the probability of
pharmacotherapy failure. Select an alternative drug or
consider increasing the recommended starting dose.
Efficacy
Clonazepam
(Klonopin)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of clonazepam; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
monitor patient for efficacy and adjust dose appropriately.
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 18 of 26
Drug Finding Recommendation Concern Evidence
Beta Blockers
Carvedilol
(Coreg)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Typical response is expected; no additional therapeutic
recommendations.
Metoprolol
(Lopressor)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism when compared to extensive
metabolizers; the resultant lower plasma concentrations
may increase probability of pharmacotherapy failure. For
heart failure (indication): select alternative drug (e.g.
bisoprolol, carvedilol) or titrate dose to a maximum of
250% of the normal dose in response to efficacy and
adverse drug events. For other indications: select
alternative drug (e.g. atenolol, bisoprolol) or titrate dose to
a maximum of 250% of the normal dose in response to
efficacy and adverse drug events.
ADR &
Efficacy
Cholinergic Agonists
Cevimeline
(Evoxac)
CYP2D6: *1|*1x2 Individuals with ultrarapid metabolizer status have
increased clearance of cevimeline; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Insufficient evidence to allow
calculation of dose adjustment. Consider alternative drug.
Efficacy
Hypnotics
Eszopiclone
(Lunesta)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of eszopiclone; the resultant lower
blood concentrations may increase the probability of
pharmacotherapy failure. Consider selecting an alternative
drug.
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 19 of 26
Drug Finding Recommendation Concern Evidence
Immunosuppressants
Azathioprine
(Imuran)
TPMT: Extensive
metabolizer. Two
alleles showing normal
activity.
Individuals with extensive metabolizer status are expected
to have a typical response to thiopurines.
Cyclosporine
(Gengraf, Neoral)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of cyclosporine; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
monitor circulating cyclosporine concentrations and adjust
dose appropriately.
Efficacy
Mercaptopurine
(Purinethol)
TPMT: Extensive
metabolizer. Two
alleles showing normal
activity.
Individuals with extensive metabolizer status are expected
to have a typical response to thiopurines.; no additional
therapeutic recommendations.
Sirolimus
(Rapamune)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status have
increased metabolism of sirolimus; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. Select an alternative drug or
monitor sirolimus trough concentrations and adjust dose
appropriately.
Efficacy
Tacrolimus
(Prograf, Hecoria)
CYP3A5: Two alleles
showing normal
activity.
Individuals with extensive metabolizer status have lower
dose-adjusted trough concentrations of tacrolimus; the
resultant decreased concentrations may increase the
probability of pharmacotherapy failure. Consider
increasing the recommended starting dose by 1.5 to 2
times (with a total starting dose not exceeding 0.3 mg/kg/
day). In liver transplant patients, donor genotype should be
considered as well as the recipient's.
Efficacy
Thioguanine
(6-TG, Tabloid, Lanvis)
TPMT: Extensive
metabolizer. Two
alleles showing normal
activity.
Individuals with extensive metabolizer status are expected
to have a typical response to thiopurines.
Muscle Relaxants
Carisoprodol
(Soma)
CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Individuals with poor metabolizer status may be at an
increased risk of adverse drug reactions due to reduced
carisoprodol metabolism. Carisoprodol should be
administered with caution.
ADR
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 20 of 26
Drug Finding Recommendation Concern Evidence
Non-drug
ApoE ApoE: Often
associated with normal
lipid metabolism.
Typical cardiovascular disease risk expected.
Nonsteroidal Anti-Inflamatory Drugs (NSAIDs)
Celecoxib
(Celebrex)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Diclofenac
(Cataflam)
CYP2C9:rs1057910:
Two alleles showing
normal activity.
Typical response is expected; no additional therapeutic
recommendations.
Flurbiprofen
(Ocufen)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Meloxicam
(Mobic)
CYP2C9: Extensive
metabolizer. Two
alleles showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 21 of 26
Drug Finding Recommendation Concern Evidence
Opioids
Buprenorphine
(Butrans, Buprenex)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status may have
increased clearance of buprenorphine; the resultant lower
plasma concentrations may increase the probability of
pharmacotherapy failure. It is recommended that patients
be monitored for signs and symptoms of opioid
withdrawal. Consider an alternative medication.
Efficacy
Codeine CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
For analgesia, select alternative drug (e.g. acetaminophen,
NSAID, morphine; not tramadol or oxycodone). Be extra
alert to adverse drug events due to increased morphine
plasma concentration.
ADR
Oxycodone
(Oxycontin)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status are at risk of
possible adverse drug reaction. Insufficient evidence to
allow calculation of dose adjustment. Select alternative
drug (not tramadol or codeine) or be alert to adverse drug
events (e.g. nausea; vomiting; constipation; respiratory
depression; confusion; urinary retention).
ADR
Oxycodone (CYP3A5)
(Oxycontin)
CYP3A5: Two alleles
showing normal
activity.
Typical response is expected; no additional therapeutic
recommendations.
Tramadol
(Ultracet, Ultram)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Individuals with ultrarapid metabolizer status have
increased metabolism to more active compounds; the
resultant increased plasma concentrations may increase
the probability of adverse drug reactions. Reduce dose by
30% and be alert to adverse drug events (e.g. nausea;
vomiting; constipation; respiratory depression; confusion;
urinary retention) or select alternative drug (e.g.
acetaminophen; NSAID; morphine - not oxycodone or
codeine).
ADR
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 22 of 26
Drug Finding Recommendation Concern Evidence
Proton Pump Inhibitors (PPIs)
Dexlansoprazole
(Kapidex, Dexilant)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
Esomeprazole
(Nexium)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
Lansoprazole
(Prevacid)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
Omeprazole
(Prilosec, Zegerid)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
Pantoprazole
(Protonix)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
Rabeprazole
(Aciphex)
CYP2C19: Poor
metabolizer. Two null
alleles showing
reduced activity.
Individuals with poor metabolizer status have decreased
metabolism to less active compounds; the resultant
increased concentrations may increase drug efficacy.
Individual is expected to respond well to PPI treatment; no
additional therapeutic recommendations.
Efficacy
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 23 of 26
Drug Finding Recommendation Concern Evidence
Selective Serotonin Reuptake Inhibitors (SSRIs)
Citalopram
(Celexa)
CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Typical response is expected. However, individuals with
poor metabolizer status have increased bioavailability
increasing the probability of side effects.
ADR
Escitalopram
(Lexapro)
CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Typical response is expected. However, individuals with
poor metabolizer status have increased bioavailability
increasing the probability of side effects.
ADR
Fluoxetine
(Prozac)
CYP2D6: *1|*1x2 Individuals taking fluoxetine should be alert to
concomitant use of drugs metabolized by CYP2D6. For a
more in-depth recommendation for individuals taking
fluoxetine, please visit this individual's GeneDose Live
profile. Briefly, fluoxetine is a potent inhibitor of CYP2D6
enzyme pathway. Fluoxetine inhibits the activity of
CYP2D6, and may make individuals with normal CYP2D6
metabolic activity resemble a poor metabolizer.
Coadministration of fluoxetine with other drugs that are
metabolized by CYP2D6, including certain antidepressants
(e.g. TCAs), antipsychotics (e.g. phenothiazines and most
atypicals), and antiarrhythmics (e.g. propafenone,
flecainide, and others) should be approached with caution.
ADR &
Efficacy
Paroxetine
(Paxil)
CYP2D6: Ultrarapid
metabolizer. One allele
showing normal
activity and one
duplicated allele
showing increased
activity.
Insufficient evidence to allow calculation of dose
adjustment. Consider selecting alternative drug (e.g.
citalopram, sertraline).
Efficacy
Sertraline
(Zoloft)
CYP2C19: Poor
metabolizer. Two null
alleles likely showing
reduced activity.
Individuals with poor metabolizer status may have higher
plasma concentrations and decreased clearance. Reduce
dose by 50%.
ADR
Statins
Atorvastatin
(Lipitor, Caduet)
CYP3A4: Ultra-rapid
metabolizer. Two
alleles showing
increased activity.
Individuals with ultrarapid metabolizer status eliminate
atorvastatin more rapidly than extensive/normal
metabolizers and may not respond well to a standard dose.
Increased dose may be needed.
Simvastatin
(Zocor)
SLCO1B1: Normal
liver uptake activity.
Individuals with normal SLCO1B1 liver uptake activity are
expected to have a typical response to a standard dose of
simvastatin.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 24 of 26
Clinical Evidence Levels
• Includes gene-drug pairs approved by the Coriell Institute for Medical Research Pharmacogenomics Advisory Group.
• Includes gene-drug pairs supported by multiple studies documenting consistent effects of specific genetic variant(s) on clinical outcomes.
• Includes gene-drug pairs approved by the Dutch Pharmacogenetics Working Group (DPWG) and/or guidelines published in Clinical Pharmacology and
Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC).
• Includes gene-drug pairs supported by pharmacokinetic, pharmacodynamic, or molecular/cellular functional studies showing consistent effects of
genetic variant(s).
• Includes Drug product information (e.g. This interpretation is based on guidance available in the FDA (Food and Drug Administration) drug label for
ABILIFY® (10/2013).
• Includes gene-drug pairs for which potential clinical outcomes are inferred from similar gene-drug interactions approved by the Dutch
Pharmacogenetics Working Group (DPWG), and/or guidelines published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics
Implementation Consortium (CPIC), and/or pharmacogenomic reports and submission from the Coriell Institute for Medical Research.
• Includes gene-drug pairs supported by published studies of the drug, related drug, or a probing compound of interest involving limited data and/or
inconsistent findings.
Strong
Moderate
Emerging
Reference Laboratory: Peachstate Health Management LLC d/b/a Aeon Clinical LaboratoriesLaboratory Certification: CLIA # 11D2031378Laboratory Director: Dr. Richard E. Mullins Ph.D., D.A.B.C.C.
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 25 of 26
Patient Information Card
ISPM Labs d/b/a Capstone Diagnostics
http://www.capstonediagnostics.com
Patient: Doe, Jane
DOB: Sample ID: GeneDose Key:
1990-01-01 ex222 ACAZPCM6P
Pharmacogenomic Summary
ApoE ɛ3|ɛ3 See full GeneDose report
Factor V Leiden Variant See full GeneDose report
MTHFR (A1298C) Variant See full GeneDose report
MTHFR (C677T) Variant See full GeneDose report
Prothrombin (F2) Normal See full GeneDose report
CYP2C19 *8|*8 Poor metabolizer
CYP2C9 *1|*1 Extensive metabolizer
CYP2D6 *1|*1x2 Ultrarapid metabolizer
CYP3A4 *1B|*1B Ultrarapid metabolizer
CYP3A5*1A|*1A; or *1A|*1D; or
*1D|*1DExtensive metabolizer
CYP4F2 *1|*1 n/a
HLA-
B*1502WT|WT WT
SLCO1B1 *1|*1Normal liver uptake
activity
TPMT *1|*1 Extensive metabolizer
VKORC1 *1|*1Normal (with respect to
Warfarin)
Powered by: Coriell Life Sciences
↑ Cut on dotted lines. ↑ Fold Here
This card contains an abbreviated genetic summary.
It is not intended as a replacement for the complete GeneDose™ report.
This card shows information about your genetics that relate to
drug metabolism. Show to your doctors before being prescribed
new medications.
For additional support and guidance:
• Physicians can visit
https://alpha.genedose.com?token=prompt
GeneDose Genetic Response Report
ex222 - Doe, Jane - Reported Mar 21, 2017 - DRAFT Powered by:
The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is
not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting
with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.
Page 26 of 26
Recommended