SAMPLE REPORT PATIENT INFORMATION Name: Smith, John DOB: April 22, 1953 Age: 63 Sex: Male Address: 126 Corporate Blvd. South Plainfield, NJ 07080
SAMPLE Date Collected: Date Received: Case ID: Source:
October 25, 2016 October 25, 2016 PGXPL16-000196 Buccal Swabs
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
REFERRING PHYSICIAN Name: Jane Doe, MD Institution: Local Hospital Phone: 123-456-7890
Comprehensive Drug Information for Smith, John ICD-10: C18.9 Malignant neoplasm of colon, unspecified
Capecitabine ;HORGD
CONSIDER ALTERNATIVES
Irinotecan &DPSWRVDU
DECREASE DOSE at start by at least one level due to increased risk for neutropenia
NORMAL RESPONSE EXPECTED
Carboplatin 3DUDSODWLQ
USE CAUTION
Fluorouracil &DUDF Pyrimidinedione 7HJDIXU
Buprenorphine 6XEXWH[ Fentanyl 'XUDJHVLF
Cisplatin 3ODWLQRO
Hydrocodone 9LFRGLQ
Leucovorin :HOOFRYRULQ
Oxycodone 2[\FRQWLQ
Oxaliplatin (OR[DWLQ
Sufentanil 6XIHQWD
Carboplatin 3DUDSODWLQ
Codeine &RGHLQH
Cisplatin 3ODWLQRO
Only selected drugs are listed here due to limited space. Please refer to Patient Specific Genotype Results table for comprehensive illustration of drugs in each action category.
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 1 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Patient Specific Genotype Results and Comprehensive Drug Information for
Smith, John ICD-10: C18.9 Malignant neoplasm of colon, unspecified Action
Drug Impacted
Clinical Interpretation
Antineoplastic Agents: CONSIDER &DSHFLWDELQH;HORGD ALTERNATIVES )OXRURXUDFLO&DUDF 3\ULPLGLQHGLRQH7HJDIXU
Gene
Genotype
Phenotype
DPYD
*2A/*2A
Poor Metabolizer
Topoisomerase I Inhibitors: ,ULQRWHFDQ&DPSWRVDU
DECREASE DOSE at start by at least one level due to increased risk for neutropenia
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
Antineoplastic Agents: &DUERSODWLQ3DUDSODWLQ &LVSODWLQ3ODWLQRO /HXFRYRULQ:HOOFRYRULQ 2[DOLSODWLQ(OR[DWLQ
USE CAUTION due to an increased risk for nephrotoxicity, decreased survival and a poorer response
ERCC1
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735482 AA genotype
Antineoplastic Agents: &DUERSODWLQ3DUDSODWLQ &LVSODWLQ3ODWLQRO /HXFRYRULQ:HOOFRYRULQ 2[DOLSODWLQ(OR[DWLQ
USE CAUTION due to a highly increased risk of toxicity and poorer treatment outcome
GSTP1
WT/WT
rs1695 AA genotype
Antineoplastic Agents: Cyclophosphamide (QGR[DQ 'R[RUXELFLQ 'R[LO (SLUXELFLQ (OOHQFH
USE CAUTION due to worse outcome including overall survival and progression-free survival
NQO1
c.559C>T/c.559C>T
rs1800566 AA genotype
Serotonin-3 Receptor Antagonists: 'RODVHWURQ$Q]HPHW *UDQLVHWURQ6DQFXVR
USE CAUTION due to increased risk for QTc interval prolongation
NOS1AP
c.10638510G>T/c.10638510G>T
rs10494366 TT genotype/rs10800397 C Allele Carrier/rs10919035 C Allele Carrier
Serotonin-3 Receptor Antagonists: 2QGDQVHWURQ=RIUDQ
USE CAUTION due to increased likelihood of nausea and vomiting
ABCB1
c.3435T>C/c.3435T> C/c.2677T>G
rs1045642 GG genotype
Antineoplastic Agents: 0HWKRWUH[DWH7UH[DOO 3HPHWUH[HG$OLPWD
NORMAL RESPONSE EXPECTED
MTHFR
WT/A1298C
A1298C Heterozygous Mutation
Opiates: NORMAL RESPONSE %XSUHQRUSKLQH6XEXWH[ EXPECTED )HQWDQ\O'XUDJHVLF +\GURFRGRQH9LFRGLQ 2[\FRGRQH2[\FRQWLQ 6XIHQWDQLO6XIHQWD
CYP3A4
*1A/*1A
Normal Metabolizer
Opiates: &RGHLQH&RGHLQH 2[\FRGRQH2[\FRQWLQ
CYP2D6
*2/*4
Normal Metabolizer
PGxOnePlus Report for Smith, John
NORMAL RESPONSE EXPECTED
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 2 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Current Medication Information for
Smith, John Action
Drug Impacted
Clinical Interpretation
Gene
Genotype
Phenotype
DPYD
*2A/*2A
Poor Metabolizer
DECREASE DOSE at start by at least one level due to increased risk for neutropenia
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
Antineoplastic Agents: Leucovorin,Oxaliplatin
USE CAUTION due to an increased risk for nephrotoxicity, decreased survival and a poorer response
ERCC1
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735482 AA genotype
Antineoplastic Agents: Leucovorin,Oxaliplatin
USE CAUTION due to a highly increased risk of toxicity and poorer treatment outcome
GSTP1
WT/WT
rs1695 AA genotype
Antineoplastic Agents: Leucovorin,Oxaliplatin
USE CAUTION due to increased risk of severe neutropenia
XRCC1
c.1196A>G/c.1196A> G
rs25487 C Allele Carrier
Serotonin-3 Receptor Antagonists: Ondansetron
USE CAUTION due to increased likelihood of nausea and vomiting
ABCB1
c.3435T>C/c.3435T> C/c.2677T>G
rs1045642 GG genotype
Opiates: Oxycodone
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Opiates: Oxycodone
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Vitamins: Niacin
CLINICAL EVIDENCE NOT SUFFICIENT
MTHFR
C677T/A1298C
C677T Heterozygous Mutation/A1298C Heterozygous Mutation
Antibiotics: Clindamycin
CLINICAL INTERPRETATION NOT AVAILABLE
NA
NA
NA
Supplements: Cysteine
PHARMACOGENOMICS EVIDENCE NOT AVAILABLE
NA
NA
NA
Antineoplastic Agents: Fluorouracil
CONSIDER ALTERNATIVES
Topoisomerase I Inhibitors: Irinotecan
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 3 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Drug-Drug Interactions for
Smith, John Severity
Drugs
Warning
ONDANSETRON MAJOR HYDROCHLORIDE Concurrent use of OXYCODONE and SEROTONERGIC AGENTS -may result in increased risk of OXYCODONE serotonin syndrome. HYDROCHLORIDE
PGxOnePlus Report for Smith, John
Documentation
Clinical Management
FAIR
Coadministration of oxycodone and another serotonergic agent may result in serotonin syndrome, because both drugs affect the serotonergic neurotransmitter system. If concomitant use of oxycodone and such an agent is clinically required, monitor patients carefully, especially during treatment initiation and dosage adjustment. Discontinue oxycodone if serotonin syndrome is suspected 3URG,QIR752;<&$(5RUDOH[WHQGHGUHOHDVHFDSVXOHV 2016).
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 4 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Drug-Food Interactions for
Smith, John Severity
Drugs
Warning
IRINOTECAN MAJOR HYDROCHLORIDE Concurrent use of IRINOTECAN and GRAPEFRUIT JUICE may -result in increased irinotecan GRAPEFRUIT exposure. JUICE
PGxOnePlus Report for Smith, John
Documentation
Clinical Management
FAIR
Use of irinotecan (a CYP3A4 substrate) and consumption of grapefruit or grapefruit juice (a CYP3A4 inhibitor) may result in increased plasma concentrations of irinotecan. Do not consume grapefruit or grapefruit juice for at least 1 ZHHNSULRUWRVWDUWLQJWKHUDS\3URG,QIR&$03726$5 intravenous injection, 2014).
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 5 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Drug-Alcohol Interactions for
Smith, John Severity
Drugs
Warning
OXYCODONE MAJOR HYDROCHLORIDE Concurrent use of OXYCODONE and ETHANOL may result in an -increase in CNS or respiratory ETHANOL depression.
NIACIN -ETHANOL
MODERATE Concurrent use of NIACIN and ETHANOL may result in increase in side effects of flushing and pruritus.
PGxOnePlus Report for Smith, John
Documentation
Clinical Management
FAIR
Counsel patients on the potential for increased risk of CNS depression, including respiratory depression, hypotension, profound sedation, and coma, when alcohol is ingested with oxycodone. Patients should be instructed to avoid alcohol consumption while taking oxycodone (Prod Info 2;<&217,1RUDOWDEOHWV
GOOD
Alcohol may potentiate the adverse effects of niacin. Concomitant alcohol may increase the side effects of flushing and pruritus and should be avoided around the time of niacin ingestion.
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 6 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Drug-Lab Interactions for
Smith, John Severity
Drugs
Warning
Documentation
Clinical Management
NIACIN -MODERATE CATECHOLAMINE NIACIN may result in falsely elevated plasma or urinary MEASUREMENT
FAIR
Niacin may interfere with the fluorescence test for plasma or urinary catecholamines leading to falsely elevated levels 3URG,QIR1,$63$1H[WHQGHGUHOHDVHRUDOWDEOHWV Interpret such assay results with caution in patients receiving niacin.
NIACIN -URINALYSIS, GLUCOSE, QUALITATIVE
FAIR
Niacin therapy may result in false-positive urine glucose measurements when assayed using cupric sulfate solution %HQHGLFWV VUHDJHQW 3URG,QIR1,$63$1H[WHQGHG release oral tablets, 2005). Interpret results of such tests with caution in patients receiving niacin.
OXYCODONE MODERATE HYDROCHLORIDE OXYCODONE may result in interference with cocaine urine -assay results due to cross-reactivity. COCAINE MEASUREMENT
FAIR
Oxycodone may cross-react with some preliminary assays that are used to detect cocaine in the urine. Positive test results should be confirmed with a more specific chemical method, such as gas chromatography/mass spectrometry (GC/MS) which is the preferred confirmatory method (Prod ,QIR3(5&2'$1RUDOWDEOHWV
OXYCODONE MODERATE HYDROCHLORIDE OXYCODONE may result in interference with -tetrahydrocannabinol urine assay TETRAHYDROCA results due to cross-reactivity. NNABINOL MEASUREMENT
FAIR
Oxycodone may cross-react with some preliminary assays that are used to detect tetrahydrocannabinol (cannabinoids) in the urine. Positive test results should be confirmed with a more specific chemical method, such as gas chromatography/mass spectrometry (GC/MS) which is the preferred confirmatory method (Prod Info 3(5&2'$1RUDOWDEOHWV
catecholamine levels due to interference with the fluorescence test.
MODERATE NIACIN may result in false-positive urine glucose measurements with cupric sulfate solution (Benedict's solution) due to mechanism unknown.
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 7 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Portable Patient PGxOnePlus Genotype Results and Drug Information by Specialty for
Smith, John Therapeutic
Action
Drug Impacted
Clinical Interpretation
Gene
Genotype
Phenotype
*1/*1
Normal Metabolizer
Cardiology
Anticoagulants: :DUIDULQ&RXPDGLQ
DECREASE DOSE Warfarin daily dose 3-4mg
CYP2C9
Cardiology
Anticoagulants: :DUIDULQ&RXPDGLQ
DECREASE DOSE Warfarin daily dose 3-4mg
VKORC1
-1639G>A/1639G>A
rs9923231 A Allele Carrier
Cardiology
Anticoagulants: Phenprocoumon 0DUFRXPDU
INCREASE DOSE
CYP4F2
*1/*3
Intermediate Metabolizer
Cardiology
Angiotensin II Receptor USE CAUTION Blockers: due to reduced response /RVDUWDQ&R]DDU
ABCB1
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
Cardiology
Statins: 6LPYDVWDWLQ=RFRU
USE CAUTION due to higher risk of developing myalgia
ABCB1
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
Cardiology
ACE Inhibitors: %HQD]HSULO/RWHQVLQ 3HULQGRSULO$FHRQ
NORMAL RESPONSE EXPECTED
ACE
WT/WT
ACE Deletion
Cardiology
ACE Inhibitors: &DSWRSULO&DSRWHQ 3HULQGRSULO$FHRQ
NORMAL RESPONSE EXPECTED
AGTR1
WT/WT
rs5186 AA genotype
Cardiology
ACE Inhibitors: &DSWRSULO&DSRWHQ 4XLQDSULO$FFXSULO
NORMAL RESPONSE EXPECTED
ACE
WT/WT
ACE Deletion
Cardiology
Angiotensin II Receptor NORMAL RESPONSE Blockers: EXPECTED &DQGHVDUWDQ$WDFDQG
AGTR1
WT/WT
rs5186 AA genotype
Cardiology
Angiotensin II Receptor NORMAL RESPONSE Blockers: EXPECTED ,UEHVDUWDQ$YDSUR
ACE
WT/WT
ACE Deletion
Cardiology
Antianginal Drugs: ,YDEUDGLQH&RUOHQWRU
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Cardiology
Antianginal Drugs: 5DQROD]LQH5DQH[D
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 8 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*1A/*1A
Normal Metabolizer
Cardiology
Antiarrhythmic Drugs: Amiodarone &RUGDURQH 'URQHGDURQH0XOWDT
NORMAL RESPONSE EXPECTED
CYP3A4
Cardiology
Antiarrhythmic Drugs: 'LJR[LQ'LJR[
NORMAL RESPONSE EXPECTED
ABCB1
Cardiology
Antiarrhythmic Drugs: )OHFDLQLGH7DPERFRU
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Cardiology
Antiarrhythmic Drugs: NORMAL RESPONSE 3URSDIHQRQH5\WKPRO EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Cardiology
Anticoagulants: 5LYDUR[DEDQ;DUHOWR
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Cardiology
Antiplatelets: &ORSLGRJUHO3ODYL[
NORMAL RESPONSE EXPECTED
CYP2C19
*1/*17
Rapid Metabolizer
Cardiology
Antiplatelets: 7LFDJUHORU%ULOLQWD
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Cardiology
Beta Blockers: $WHQRORO7HQRUPLQ
NORMAL RESPONSE EXPECTED
ADRA2A
WT/c.1252G>C
rs1800544 GC genotype/rs180 0545 GG genotype
Cardiology
Beta Blockers: &DUYHGLORO&RUHJ
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Cardiology
Beta Blockers: 0HWRSURORO/RSUHVVRU
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Cardiology
Calcium Channel Blockers: Amiodarone &RUGDURQH
NORMAL RESPONSE EXPECTED
NOS1AP
Cardiology
Calcium Channel NORMAL RESPONSE Blockers: EXPECTED $PORGLSLQH1RUYDVF 'LOWLD]HP&DUGL]HP )HORGLSLQH3OHQGLO /HUFDQLGLSLQH=DQLGLS 1LVROGLSLQH6XODU 1LWUHQGLSLQH1LWUHSLQ
CYP3A4
PGxOnePlus Report for Smith, John
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
c.106rs10494366 TT 38510G>T/c.1 genotype/rs108 06-38510G>T 00397 C Allele Carrier/rs10919 035 C Allele Carrier *1A/*1A
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Normal Metabolizer
Page 9 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Cardiology
Calcium Channel Blockers: $PORGLSLQH1RUYDVF 1LIHGLSLQH$GDODW
NORMAL RESPONSE EXPECTED
NOS1AP
Cardiology
Calcium Channel Blockers: 1LWUHQGLSLQH1LWUHSLQ
NORMAL RESPONSE EXPECTED
AGTR1
Cardiology
Calcium Channel Blockers: 9HUDSDPLO&DODQ
NORMAL RESPONSE EXPECTED
NOS1AP
Cardiology
Diuretics: NORMAL RESPONSE %XPHWDQLGH%XPH[ EXPECTED )XURVHPLGH/DVL[ Hydrochlorothiazide 0LFUR]LGH 7RUDVHPLGH'HPDGH[
Cardiology
Diuretics: Hydrochlorothiazide 0LFUR]LGH
Cardiology
Genotype
Phenotype
c.106rs10494366 TT 38510G>T/c.1 genotype/rs108 06-38510G>T 00397 C Allele Carrier/rs10919 035 C Allele Carrier WT/WT
rs5186 AA genotype
c.106rs10494366 TT 38510G>T/c.1 genotype/rs108 06-38510G>T 00397 C Allele Carrier/rs10919 035 C Allele Carrier
ACE
WT/WT
ACE Deletion
NORMAL RESPONSE EXPECTED
AGTR1
WT/WT
rs5186 AA genotype
Diuretics: Spironolactone $OGDFWRQH
NORMAL RESPONSE EXPECTED
ACE
WT/WT
ACE Deletion
Cardiology
Phosphodiesterase Inhibitors: &LORVWD]RO3OHWDO
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Cardiology
Statins: $WRUYDVWDWLQ/LSLWRU
NORMAL RESPONSE EXPECTED
ABCB1
Cardiology
Statins: $WRUYDVWDWLQ/LSLWRU
NORMAL RESPONSE EXPECTED
APOE
WT/WT
Non E2 Carrier
Cardiology
Statins: $WRUYDVWDWLQ/LSLWRU /RYDVWDWLQ0HYDFRU
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Cardiology
Statins: $WRUYDVWDWLQ/LSLWRU /RYDVWDWLQ0HYDFRU
NORMAL RESPONSE EXPECTED
CYP3A5
*3A/*3A
Non Expresser
Cardiology
Statins: NORMAL RESPONSE $WRUYDVWDWLQ/LSLWRU EXPECTED 3LWDYDVWDWLQ/LYDOR 3UDYDVWDWLQ3UDYDFKRO 5RVXYDVWDWLQ&UHVWRU
SLCO1B1
*1/*1
Normal Activity
PGxOnePlus Report for Smith, John
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 10 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
Cardiology
Statins: NORMAL RESPONSE $WRUYDVWDWLQ/LSLWRU EXPECTED 3UDYDVWDWLQ3UDYDFKRO
KIF6
Cardiology
Statins: )OXYDVWDWLQ/HVFRO
NORMAL RESPONSE EXPECTED
ACE
WT/WT
ACE Deletion
Cardiology
Vasodilators: 1LWURSUXVVLGH1LSULGH
NORMAL RESPONSE EXPECTED
ACE
WT/WT
ACE Deletion
Dentistry
Cholinergic Agonists: &HYLPHOLQH(YR[DF
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Endocrinology
Biguanides: Metformin *OXFRSKDJH
USE CAUTION due to decreased drug response
ATM
WT/c.1755285G>T
rs11212617 AC genotype
Endocrinology
Hormones: Oral-Contraceptives
NORMAL RESPONSE EXPECTED
F2
WT/WT
Wild Type
Endocrinology
Sulfonylureas: NORMAL RESPONSE Chlorpropamide EXPECTED 'LDELQHVH *OLPHSLULGH $PDU\O *OLSL]LGH *OXFRWURO *O\EXULGH *O\QDVH 7ROEXWDPLGH 2ULQDVH
G6PD
WT/WT
Normal G6PD Efficiency
Endocrinology
Thiazolidinediones: 3LRJOLWD]RQH$FWRV
NORMAL RESPONSE EXPECTED
CYP2C8
*1/*1
WT
Endocrinology
Thiazolidinediones: NORMAL RESPONSE 5RVLJOLWD]RQH$YDQGLD EXPECTED
CYP2C8
*1/*1
WT
Gastroenterology
Proton Pump Inhibitors INCREASE DOSE (PPIs): by 50-200% and then Dexlansoprazole adjusted to achieve a 'H[LODQW favorable clinical response Esomeprazole due to decreased efficacy 1H[LXP /DQVRSUD]ROH 3UHYDFLG 2PHSUD]ROH 3ULORVHF 3DQWRSUD]ROH 3URWRQL[ 5DEHSUD]ROH $FLSKH[
CYP2C19
*1/*17
Rapid Metabolizer
Gastroenterology
Sulfa Agents: Sulfasalazine $]XOILGLQH
G6PD
WT/WT
Normal G6PD Efficiency
PGxOnePlus Report for Smith, John
NORMAL RESPONSE EXPECTED
WT/c.2155T> rs20455 non-AA C genotype
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 11 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
F5
WT/WT
Non Factor V Leiden Carrier
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735 482 AA genotype
Hematology
Platelet Stimulating Agents: Eltrombopag 3URPDFWD
Immunology
Immunomodulators: USE CAUTION 7KDOLGRPLGH7KDORPLG due to decreased overall survival
ERCC1
Immunology
Immunosuppressants: &\FORVSRULQH1HRUDO
NORMAL RESPONSE EXPECTED
ABCB1
Immunology
Immunosuppressants: 6LUROLPXV5DSDPXQH
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Immunology
Immunosuppressants: NORMAL RESPONSE 6LUROLPXV5DSDPXQH EXPECTED 7DFUROLPXV3URWRSLF
CYP3A5
*3A/*3A
Non Expresser
Infectious Diseases
Antifungal Drugs: 9RULFRQD]ROH9IHQG
CONSIDER ALTERNATIVES (e.g., isavuconazole, liposomal amphotericin B, posaconazole)
CYP2C19
*1/*17
Rapid Metabolizer
Infectious Diseases
Protease Inhibitors: $WD]DQDYLU5H\DWD]
CONSIDER ALTERNATIVES due to high likelihood of drug discontinuation resulted from jaundice
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
Infectious Diseases
Antiviral Drugs: %RFHSUHYLU9LFWUHOLV Peginterferon alfa-2b 3HJ,QWURQ 5LEDYLULQ &RSHJXV 7HODSUHYLU ,QFLYR
USE CAUTION due to decreased response
IFNL3
39738787C>T /39743165T> G
Unfavorable Response Genotype
Infectious Diseases
Antiviral Drugs: %RFHSUHYLU9LFWUHOLV Peginterferon alfa-2b 3HJ,QWURQ 5LEDYLULQ &RSHJXV 7HODSUHYLU ,QFLYR
USE CAUTION due to increase risk of ribavirin-induced hemolytic anemia
ITPA
WT/WT
Non-protective Wild Type
Infectious Diseases
Non-Nucleoside Reverse Transcriptase Inhibitors (NNRTIs): 1HYLUDSLQH9LUDPXQH
USE CAUTION due to the increased risk of drug hepatotoxicity
ABCB1
Infectious Diseases
Antibiotics: NORMAL RESPONSE 'DSVRQH$F]RQH EXPECTED Sulfamethoxazole/Trimet KRSULP%DFWULP
G6PD
WT/WT
Normal G6PD Efficiency
Infectious Diseases
Antibiotics: NORMAL RESPONSE ,VRQLD]LG+\GUD EXPECTED 3\UD]LQDPLGH5LIDWHU 5LIDPSLQ5LIDGLQ
NAT2
*4/*4
Normal Metabolizer
PGxOnePlus Report for Smith, John
NORMAL RESPONSE EXPECTED
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 12 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
WT/WT
Normal G6PD Efficiency
Infectious Diseases
Antibiotics: Nalidixic Acid 1HJJUDP Nitrofurantoin )XUDGDQWLQ
NORMAL RESPONSE EXPECTED
G6PD
Infectious Diseases
Antimalarial Drugs: &KORURTXLQH$UDOHQ Primaquine Phosphate 3ULPDTXLQH
NORMAL RESPONSE EXPECTED
G6PD
WT/WT
Normal G6PD Efficiency
Infectious Diseases
Antiviral Drugs: $EDFDYLU=LDJHQ
NORMAL RESPONSE EXPECTED
HLA-B
WT/WT
Wild Type
Infectious Diseases
Antiviral Drugs: (IDYLUHQ]$WULSOD
NORMAL RESPONSE EXPECTED
CYP2B6
*1/*1
Non G516T Homozygous/N on A785G Homozygous/N on T983C Homozygous
Neurology
Barbiturates: 3KHQREDUELWDO/HYVLQ
USE CAUTION due to the increased risk of drug resistance
ABCB1
Neurology
Anticonvulsant Drugs: NORMAL RESPONSE Carbamazepine EXPECTED 7HJUHWRO /DPRWULJLQH /DPLFWDO Oxcarbazepine 7ULOHSWDO 3KHQ\WRLQ 'LODQWLQ 7RSLUDPDWH 7RSDPD[
SCN2A
WT/WT
rs2304016 nonGG genotype
Neurology
Anticonvulsant Drugs: Carbamazepine 7HJUHWRO 3KHQ\WRLQ 'LODQWLQ
NORMAL RESPONSE EXPECTED
HLA-B
WT/WT
Wild Type
Neurology
COMT Inhibitors: (QWDFDSRQH&RPWDQ
NORMAL RESPONSE EXPECTED
COMT
WT/WT
Non MET Homozygous
Neurology
Monoamine Depletors: Tetrabenazine ;HQD]LQH
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
OBGYN
Hormonal Contraceptives: Norelgestromin/Ethinyl (VWUDGLRO(YUD
NORMAL RESPONSE EXPECTED
F5
WT/WT
Non Factor V Leiden Carrier
Oncology
Antineoplastic Agents: CONSIDER ALTERNATIVES &DSHFLWDELQH;HORGD )OXRURXUDFLO&DUDF Pyrimidinedione 7HJDIXU
DPYD
*2A/*2A
Poor Metabolizer
Oncology
Topoisomerase I DECREASE DOSE Inhibitors: at start by at least one level ,ULQRWHFDQ&DPSWRVDU due to increased risk for neutropenia
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
PGxOnePlus Report for Smith, John
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 13 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735 482 AA genotype
Oncology
Antineoplastic Agents: Carboplatin 3DUDSODWLQ &LVSODWLQ 3ODWLQRO /HXFRYRULQ :HOOFRYRULQ 2[DOLSODWLQ(OR[DWLQ
USE CAUTION due to an increased risk for nephrotoxicity, decreased survival and a poorer response
ERCC1
Oncology
Antineoplastic Agents: Carboplatin 3DUDSODWLQ &LVSODWLQ 3ODWLQRO /HXFRYRULQ :HOOFRYRULQ 2[DOLSODWLQ(OR[DWLQ
USE CAUTION due to a highly increased risk of toxicity and poorer treatment outcome
GSTP1
WT/WT
rs1695 AA genotype
Oncology
Antineoplastic Agents: USE CAUTION Carboplatin due to increased risk of 3DUDSODWLQ &LVSODWLQ severe neutropenia 3ODWLQRO /HXFRYRULQ :HOOFRYRULQ 2[DOLSODWLQ(OR[DWLQ
XRCC1
c.1196A>G/c. 1196A>G
rs25487 C Allele Carrier
Oncology
Antineoplastic Agents: Cyclophosphamide (QGR[DQ 'R[RUXELFLQ 'R[LO (SLUXELFLQ (OOHQFH
NQO1
c.559C>T/c.5 59C>T
rs1800566 AA genotype
Oncology
Antineoplastic Agents: USE CAUTION &\WDUDELQH'HSRF\W due to decreased survival time and an increased risk of death
CDA
WT/c.-451C>T
rs532545 T Allele
Oncology
Antineoplastic Agents: USE CAUTION Dexamethasone due to the decreased survival 0D[LGH[ 9LQFULVWLQH rate 0DUTLER
ABCB1
Oncology
Antineoplastic Agents: USE CAUTION 'RFHWD[HO7D[RWHUH due to increased risk for 3DFOLWD[HO$EUD[DQH nephrotoxicity
ERCC1
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735 482 AA genotype
Oncology
Kinase Inhibitors: (UORWLQLE7DUFHYD 1LORWLQLE7DVLJQD 3D]RSDQLE9RWULHQW
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
Oncology
Serotonin-3 Receptor USE CAUTION Antagonists: due to increased risk for QTc 'RODVHWURQ$Q]HPHW interval prolongation *UDQLVHWURQ6DQFXVR
Oncology
Serotonin-3 Receptor Antagonists: 2QGDQVHWURQ=RIUDQ
Oncology
Antineoplastic Agents: NORMAL RESPONSE &DED]LWD[HO-HYWDQD EXPECTED
PGxOnePlus Report for Smith, John
USE CAUTION due to worse outcome including overall survival and progression-free survival
USE CAUTION due to increased risk of hyperbilirubinemia
USE CAUTION due to increased likelihood of nausea and vomiting
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
NOS1AP
c.106rs10494366 TT 38510G>T/c.1 genotype/rs108 06-38510G>T 00397 C Allele Carrier/rs10919 035 C Allele Carrier
ABCB1
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
CYP3A4
*1A/*1A
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Normal Metabolizer
Page 14 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
Oncology
Antineoplastic Agents: NORMAL RESPONSE 0HWKRWUH[DWH7UH[DOO EXPECTED
ABCB1
Oncology
Antineoplastic Agents: NORMAL RESPONSE 0HWKRWUH[DWH7UH[DOO EXPECTED 3HPHWUH[HG$OLPWD
MTHFR
WT/A1298C
A1298C Heterozygous Mutation
Oncology
BRAF Inhibitors: 'DEUDIHQLE7DILQODU
NORMAL RESPONSE EXPECTED
G6PD
WT/WT
Normal G6PD Efficiency
Oncology
Enzymes: 5DVEXULFDVH(OLWHN
NORMAL RESPONSE EXPECTED
G6PD
WT/WT
Normal G6PD Efficiency
Oncology
Estrogen Antagonists: 7DPR[LIHQ6ROWDPR[
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Oncology
Estrogen Antagonists: 7DPR[LIHQ6ROWDPR[
NORMAL RESPONSE EXPECTED
F2
WT/WT
Wild Type
Oncology
Kinase Inhibitors: *HILWLQLE,UHVVD
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Oncology
Kinase Inhibitors: 5X[ROLWLQLE-DNDYL
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Oncology
Kinase Inhibitors: 6XQLWLQLE6XWHQW
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Oncology
Purine Antagonists: Mercaptopurine 3XULQHWKRO 7KLRJXDQLQH7DEORLG
NORMAL RESPONSE EXPECTED
TPMT
*1/*1
Normal Metabolizer
Ophthalmology
Nonsteroidal NORMAL RESPONSE Antiinflammatory Drugs EXPECTED (NSAIDs): )OXUELSURIHQ2FXIHQ
CYP2C9
*1/*1
Normal Metabolizer
Pain Management
Muscle Relaxants: Cyclobenzaprine )OH[HULO
CYP1A2
*1C/*1F/*1F
Ultrarapid Metabolizer
INCREASE DOSE
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
OR USE CAUTION due to the risk of decreased exposure to the drug leading to lower effectiveness PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 15 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*1C/*1F/*1F
Ultrarapid Metabolizer
Pain Management
Central Alpha-2 Adrenergic Agonists: 7L]DQLGLQH=DQDIOH[
USE CAUTION due to the increased risk for loss of efficacy
CYP1A2
Pain Management
Local Anesthetics: /LGRFDLQH/LGRGHUP 5RSLYDFDLQH1DURSLQ
USE CAUTION due to the increased risk for loss of efficacy
CYP1A2
*1C/*1F/*1F
Ultrarapid Metabolizer
Pain Management
Narcotics: Methadone 0HWKDGRVH
USE CAUTION due to increased severity of sleep disorders
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
Pain Management
Anesthetics: .HWDPLQH.HWDODU 3URSRIRO'LSULYDQ
NORMAL RESPONSE EXPECTED
CYP2B6
*1/*1
Non G516T Homozygous/N on A785G Homozygous/N on T983C Homozygous
Pain Management
Muscle Relaxants: &DULVRSURGRO6RPD
NORMAL RESPONSE EXPECTED
CYP2C19
*1/*17
Rapid Metabolizer
Pain Management
Narcotics: Methadone 0HWKDGRVH
NORMAL RESPONSE EXPECTED
DRD2
WT/WT
rs1799978 TT genotype
Pain Management
Nonsteroidal NORMAL RESPONSE Antiinflammatory Drugs EXPECTED (NSAIDs): &HOHFR[LE&HOHEUH[ 'LFORIHQDF9ROWDUHQ 0HOR[LFDP0RELF
CYP2C9
*1/*1
Normal Metabolizer
Pain Management
Nonsteroidal NORMAL RESPONSE Antiinflammatory Drugs EXPECTED (NSAIDs): ,EXSURIHQ$GYLO 1DSUR[HQ$OHYH
CYP2C9
*1/*1
Normal Metabolizer
Pain Management
Opiates: $OIHQWDQLO$OIHQWD )HQWDQ\O'XUDJHVLF 0RUSKLQH'XUDPRUSK
NORMAL RESPONSE EXPECTED
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
Pain Management
Opiates: NORMAL RESPONSE Buprenorphine EXPECTED 6XEXWH[ )HQWDQ\O 'XUDJHVLF +\GURFRGRQH9LFRGLQ 2[\FRGRQH2[\FRQWLQ 6XIHQWDQLO6XIHQWD
CYP3A4
*1A/*1A
Normal Metabolizer
Pain Management
Opiates: NORMAL RESPONSE &RGHLQH&RGHLQH EXPECTED 2[\FRGRQH2[\FRQWLQ
CYP2D6
*2/*4
Normal Metabolizer
Pain Management
Opiates: NORMAL RESPONSE +\GURFRGRQH9LFRGLQ EXPECTED
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 16 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*2/*4
Normal Metabolizer
Pain Management
Opiates: NORMAL RESPONSE Tramadol EXPECTED hydrochloride/Acetamino SKHQ8OWUDFHW 7UDPDGRO8OWUDP
CYP2D6
Pain Management
Serotonin Receptor Agonists: (OHWULSWDQ5HOSD[ =ROPLWULSWDQ=RPLJ
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): 6HUWUDOLQH=RORIW
CONSIDER ALTERNATIVES for non-responders
CYP2C19
*1/*17
Rapid Metabolizer
Psychiatry
Tricyclic CONSIDER ALTERNATIVES Antidepressants: $PLWULSW\OLQH(ODYLO Clomipramine $QDIUDQLO Desipramine 1RUSUDPLQ 'R[HSLQ 'HSWUDQ ,PLSUDPLQH 7RIUDQLO 1RUWULSW\OLQH 3DPHORU 3URWULSW\OLQH 9LYDFWLO 7ULPLSUDPLQH 6XUPRQWLO
CYP2C19
*1/*17
Rapid Metabolizer
Psychiatry
Selective Serotonin CONSIDER ALTERNATIVES Reuptake Inhibitors (SSRIs): &LWDORSUDP&HOH[D (VFLWDORSUDP/H[DSUR OR
CYP2C19
*1/*17
Rapid Metabolizer
INCREASE DOSE by 150% in response to efficacy and adverse drug event Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): &LWDORSUDP&HOH[D
USE CAUTION due to less improvement in symptoms
HTR2A
Psychiatry
Stimulants: Cannabinoids
USE CAUTION due to increased risk of tetrahydrocannabinol (THC) dependence
FAAH
WT/WT
rs324420 CC genotype
Psychiatry
Stimulants: Cocaine
USE CAUTION due to increased risk of cocaine dependence
CNR1
WT/WT
rs806368 TT genotype
Psychiatry
Anti-anxiety Agents: %XVSLURQH%XVSDU
NORMAL RESPONSE EXPECTED
HTR1A
WT/c.1019G>C
rs6295 non-CC genotype/rs180 0044 C Allele Carrier
Psychiatry
Antimanic Agents: /LWKLXP/LWKDQH
NORMAL RESPONSE EXPECTED
ABCB1
PGxOnePlus Report for Smith, John
c.614rs7997012 GG 2211T>C/c.61 genotype 4-2211T>C
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 17 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*1A/*1A
Normal Metabolizer
Psychiatry
Antipsychotics: $ULSLSUD]ROH$ELOLI\
NORMAL RESPONSE EXPECTED
CYP3A4
Psychiatry
Antipsychotics: $ULSLSUD]ROH$ELOLI\ ,ORSHULGRQH)DQDSW 3LPR]LGH2UDS
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: &OR]DSLQH&OR]DULO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: NORMAL RESPONSE &OR]DSLQH&OR]DULO EXPECTED 2ODQ]DSLQH=DODVWD 5LVSHULGRQH5LVSHUGDO
ANKK1
WT/WT
Non A1 Carrier
Psychiatry
Antipsychotics: NORMAL RESPONSE &OR]DSLQH&OR]DULO EXPECTED 2ODQ]DSLQH=DODVWD 5LVSHULGRQH5LVSHUGDO
HTR2C
c.5513008C>G/c.55 1-3008C>G
rs1414334 G Allele Carrier
Psychiatry
Antipsychotics: +DORSHULGRO+DOGRO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: 2ODQ]DSLQH=DODVWD
NORMAL RESPONSE EXPECTED
CYP1A2
*1C/*1F/*1F
Ultrarapid Metabolizer
Psychiatry
Antipsychotics: NORMAL RESPONSE 3HUSKHQD]LQH7ULODIRQ EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: NORMAL RESPONSE 5LVSHULGRQH5LVSHUGDO EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: NORMAL RESPONSE 5LVSHULGRQH5LVSHUGDO EXPECTED
DRD2
WT/WT
rs1799978 TT genotype
Psychiatry
Antipsychotics: 7KLRULGD]LQH0HOODULO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Antipsychotics: Valproic acid 'HSDNRWH
NORMAL RESPONSE EXPECTED
ANKK1
WT/WT
Non A1 Carrier
Psychiatry
Benzodiazepines: $OSUD]RODP;DQD[
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 18 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*1/*17
Rapid Metabolizer
Psychiatry
Benzodiazepines: &ORED]DP2QIL
NORMAL RESPONSE EXPECTED
CYP2C19
Psychiatry
Benzodiazepines: /RUD]HSDP$WLYDQ 2[D]HSDP6HUD[
NORMAL RESPONSE EXPECTED
UGT2B15
*1/*2
rs1902023 nonAA genotype
Psychiatry
Ethanol: Ethanol
NORMAL RESPONSE EXPECTED
ANKK1
WT/WT
Non A1 Carrier
Psychiatry
Ethanol: Ethanol
NORMAL RESPONSE EXPECTED
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
Psychiatry
Opioids Antagonists: 1DOR[RQH(Y]LR 1DOWUH[RQH5HYLD
NORMAL RESPONSE EXPECTED
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
Psychiatry
Organic Thiocarbonic Acid Derivatives: 'LVXOILUDP$QWDEXVH
NORMAL RESPONSE EXPECTED
ANKK1
WT/WT
Non A1 Carrier
Psychiatry
Sedatives: Dexmedetomidine 3UHFHGH[
NORMAL RESPONSE EXPECTED
ADRA2A
WT/c.1252G>C
rs1800544 GC genotype/rs180 0545 GG genotype
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): &LWDORSUDP&HOH[D
NORMAL RESPONSE EXPECTED
GRIK4
WT/c.8310039T>C
rs1954787 TC genotype
Psychiatry
Selective Serotonin NORMAL RESPONSE Reuptake Inhibitors EXPECTED (SSRIs): &LWDORSUDP&HOH[D (VFLWDORSUDP/H[DSUR
SLC6A4
S/LA
HTTLPR Long Form
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): )OXR[HWLQH3UR]DF
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): )OXYR[DPLQH/XYR[
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): )OXYR[DPLQH/XYR[ 3DUR[HWLQH3D[LO
NORMAL RESPONSE EXPECTED
HTR1A
WT/c.1019G>C
rs6295 non-CC genotype/rs180 0044 C Allele Carrier
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): 3DUR[HWLQH3D[LO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 19 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
*1A/*1A
Normal Metabolizer
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): 9LOD]RGRQH9LLEU\G
NORMAL RESPONSE EXPECTED
CYP3A4
Psychiatry
Selective Serotonin Reuptake Inhibitors (SSRIs): 9RUWLR[HWLQH7ULQWHOOL[
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Serotonin and NORMAL RESPONSE Norepinephrine EXPECTED Reuptake Inhibitors (SNRIs): $WRPR[HWLQH6WUDWWHUD
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Serotonin and Norepinephrine Reuptake Inhibitors (SNRIs): 'XOR[HWLQH&\PEDOWD
NORMAL RESPONSE EXPECTED
CYP1A2
*1C/*1F/*1F
Ultrarapid Metabolizer
Psychiatry
Serotonin and Norepinephrine Reuptake Inhibitors (SNRIs): Levomilnacipran )HW]LPD
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Psychiatry
Serotonin and Norepinephrine Reuptake Inhibitors (SNRIs): 1HID]RGRQH1HIDGDU
NORMAL RESPONSE EXPECTED
ABCB1
Psychiatry
Serotonin and NORMAL RESPONSE Norepinephrine EXPECTED Reuptake Inhibitors (SNRIs): 5HER[HWLQH(GURQD[ 7UD]RGRQH'HV\UHO
CYP3A4
*1A/*1A
Normal Metabolizer
Psychiatry
Serotonin and Norepinephrine Reuptake Inhibitors (SNRIs): 9HQODID[LQH(IIH[RU
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Psychiatry
Smoking Cessation Agents: %XSURSLRQ:HOOEXWULQ
NORMAL RESPONSE EXPECTED
ANKK1
WT/WT
Non A1 Carrier
Psychiatry
Stimulants: Amphetamine $GGHUDOO
NORMAL RESPONSE EXPECTED
OPRM1
WT/c.290+10 50C>T
rs1799971 A Allele Carrier/rs51067 9 non-TT genotype
PGxOnePlus Report for Smith, John
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 20 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
WT/WT
Non MET Homozygous
Psychiatry
Stimulants: Amphetamine $GGHUDOO Dexmethylphenidate )RFDOLQ Dextroamphetamine $GGHUDOO Lisdexamfetamine 9\YDQVH Methylphenidate 5LWDOLQ
NORMAL RESPONSE EXPECTED
COMT
Psychiatry
Stimulants: Dextroamphetamine $GGHUDOO Methylphenidate 5LWDOLQ
NORMAL RESPONSE EXPECTED
DRD1
c.-48G>A/c.48G>A
rs4532 non-CC genotype
Psychiatry
Stimulants: Methamphetamine 'HVR[\Q
NORMAL RESPONSE EXPECTED
FAAH
WT/WT
rs324420 CC genotype
Psychiatry
Stimulants: Methylphenidate 5LWDOLQ
NORMAL RESPONSE EXPECTED
CES1
WT/WT
rs71647871 C Allele
Psychiatry
Stimulants: 1LFRWLQH1LFRGHUP
NORMAL RESPONSE EXPECTED
COMT
WT/WT
Non MET Homozygous
Psychiatry
Supplements: Folic Acid
NORMAL RESPONSE EXPECTED
MTHFR
WT/A1298C
A1298C Heterozygous Mutation
Psychiatry
Tetracyclic Antidepressants: 0DSURWLOLQH/XGLRPLO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Rheumatology
Glucocorticoids: USE CAUTION Methylprednisolone due to increased risk of 0HGURO 3UHGQLVRORQH Osteonecrosis 2PQLSUHG 3UHGQLVRQH 'HOWDVRQH
ABCB1
Rheumatology
Immunosuppressive Drugs: $]DWKLRSULQH,PXUDQ
NORMAL RESPONSE EXPECTED
TPMT
*1/*1
Normal Metabolizer
Rheumatology
Metabolic Inhibitors: 0HWKRWUH[DWH7UH[DOO
NORMAL RESPONSE EXPECTED
ITPA
WT/WT
Non-protective Wild Type
Rheumatology
Uricosurics: NORMAL RESPONSE Pegloticase EXPECTED .U\VWH[[D 3UREHQHFLG 3UREDODQ
G6PD
WT/WT
Normal G6PD Efficiency
PGxOnePlus Report for Smith, John
c.3435T>C/c. rs1045642 GG 3435T>C/c.26 genotype 77T>G
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 21 of 27
SAMPLE REPORT Therapeutic
Action
Drug Impacted
Clinical Interpretation
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Gene
Genotype
Phenotype
WT/WT
Wild Type
Rheumatology
Xanthine oxidase inhibitors: $OORSXULQRO=\ORSULP
NORMAL RESPONSE EXPECTED
HLA-B
Urology
Alpha Blockers: Dutasteride/Tamsulosin -DO\Q 7DPVXORVLQ )ORPD[
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Urology
Alpha Blockers: 6LORGRVLQ5DSDIOR
NORMAL RESPONSE EXPECTED
CYP3A4
*1A/*1A
Normal Metabolizer
Urology
Muscarinic Receptor Antagonists: 'DULIHQDFLQ(QDEOH[
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
Urology
Muscarinic Receptor Antagonists: 7ROWHURGLQH'HWURO
NORMAL RESPONSE EXPECTED
CYP2D6
*2/*4
Normal Metabolizer
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 22 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Patient PGxOnePlus Genotype and Phenotype Results for Smith, John Gene
Genotype
Phenotype
ABCB1
c.3435T>C/c.3435T>C/c.2677T >G
rs1045642 GG genotype
ACE
WT/WT
ACE Deletion
ADRA2A
WT/c.-1252G>C
rs1800544 GC genotype/rs1800545 GG genotype
AGTR1
WT/WT
rs5186 AA genotype
ANKK1
WT/WT
Non A1 Carrier
APOE
WT/WT
Non E2 Carrier
ATM
WT/c.175-5285G>T
rs11212617 AC genotype
CDA
WT/c.-451C>T
rs532545 T Allele
CES1
WT/WT
rs71647871 C Allele
CNR1
WT/WT
rs806368 TT genotype
COMT
WT/WT
Non MET Homozygous
CYP1A2
*1C/*1F/*1F
Ultrarapid Metabolizer
CYP2B6
*1/*1
Non G516T Homozygous/Non A785G Homozygous/Non T983C Homozygous
CYP2C19
*1/*17
Rapid Metabolizer
CYP2C8
*1/*1
WT
CYP2C9
*1/*1
Normal Metabolizer
CYP2D6
*2/*4
Normal Metabolizer
CYP3A4
*1A/*1A
Normal Metabolizer
CYP3A5
*3A/*3A
Non Expresser
CYP4F2
*1/*3
Intermediate Metabolizer
DPYD
*2A/*2A
Poor Metabolizer
DRD1
c.-48G>A/c.-48G>A
rs4532 non-CC genotype
DRD2
WT/WT
rs1799978 TT genotype
ERCC1
WT/WT
rs3212986 C Allele Carrier/rs11615 AA genotype/rs735482 AA genotype
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 23 of 27
SAMPLE REPORT Gene
Genotype
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Phenotype
F2
WT/WT
Wild Type
F5
WT/WT
Non Factor V Leiden Carrier
FAAH
WT/WT
rs324420 CC genotype
G6PD
WT/WT
Normal G6PD Efficiency
GRIK4
WT/c.83-10039T>C
rs1954787 TC genotype
GSTP1
WT/WT
rs1695 AA genotype
HLA-B
WT/WT
Wild Type
HTR1A
WT/c.-1019G>C
rs6295 non-CC genotype/rs1800044 C Allele Carrier
HTR2A
c.614-2211T>C/c.614-2211T>C
rs7997012 GG genotype
HTR2C
c.551-3008C>G/c.5513008C>G
rs1414334 G Allele Carrier
IFNL3
39738787C>T/39743165T>G
Unfavorable Response Genotype
ITPA
WT/WT
Non-protective Wild Type
KIF6
WT/c.2155T>C
rs20455 non-AA genotype
MTHFR
WT/A1298C
A1298C Heterozygous Mutation
NAT2
*4/*4
Normal Metabolizer
NOS1AP
c.106-38510G>T/c.10638510G>T
rs10494366 TT genotype/rs10800397 C Allele Carrier/rs10919035 C Allele Carrier
NQO1
c.559C>T/c.559C>T
rs1800566 AA genotype
OPRM1
WT/c.290+1050C>T
rs1799971 A Allele Carrier/rs510679 non-TT genotype
SCN2A
WT/WT
rs2304016 non-GG genotype
SLC6A4
S/LA
HTTLPR Long Form
SLCO1B1
*1/*1
Normal Activity
TPMT
*1/*1
Normal Metabolizer
UGT1A1
*28/*28
Homozygous *28 Allele Carrier
UGT2B15
*1/*2
rs1902023 non-AA genotype
VKORC1
-1639G>A/-1639G>A
rs9923231 A Allele Carrier
XRCC1
c.1196A>G/c.1196A>G
rs25487 C Allele Carrier
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 24 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
PGxOnePlus Panel Genes and Variants: This test only detects those genes and variants listed below. A normal (wild type) genotype signifies the absence of the targeted alleles and does not indicate the absence of other mutations not covered by the assay. The possibility cannot be ruled out that the indicated genotypes may be present but below the limits of detection for this assay. The panel includes 50 genes and 211 variants based on the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group (DPWG) and the FDA's work group guidance.
Gene
Allele Type
Alleles
ABCB1
Decreased Activity
rs1045642, rs2032582
ACE
Decreased Activity
rs1799752
ADRA2A
Decreased Activity
rs1800544, rs1800545
AGTR1
Decreased Activity
rs5186
ANKK1
Decreased Activity
rs1800497
APOE
Decreased Activity
rs7412
ATM
Decreased Metformin Response
rs11212617
CDA
Decreased Activity
rs532545
CES1
Decreased Activity
rs71647871
CNR1
Decreased Activity
rs806368
COMT
Decreased Activity
rs4680
Active
*1A
Increased Activity
*1F
Decreased Activity
*1C, *1K, *3, *4, *7
Inactive
*6
Decreased Activity
*6, *18
Active
*1
Increased Activity
*17
Decreased Activity
*9, *10
Inactive
*2, *3, *4, *5, *6, *7, *8, *12
Decreased Activity
*3
Active
*1
Decreased Activity
*2, *3, *4, *5, *8, *9, *11, *12, *13, *14, *16
Inactive
*6, *15
Active
*1, *2, *35
Decreased Activity
*9, *10, *17, *29, *41
Inactive
*3, *4, *6, *7, *8, *11, *12, *14, *19, *20, *21, *38, *40, *44
Deletion
*5
Amplification
*1XN, *2XN, *4XN, *10XN, *17XN, *29xN, *35xN, *41XN
Active
*1A
Decreased Activity
*1B, *2, *3, *12, *17
Active
*1A
Decreased Activity
*2, *7, *8, *9
Inactive
*3A, *3B, *6
CYP1A2
CYP2B6
CYP2C19
CYP2C8
CYP2C9
CYP2D6
CYP3A4
CYP3A5
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 25 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Active
*1
Decreased Activity
*3
Active
*1, *4, *5, *6, *9A
Decreased Activity
*9B, *10
Inactive
*2A, *3, *7, *8, *11, *12, *13, 496A>G, IVS10-15T>C, 1845G>T, 2846A>T
DRD1
Decreased Activity
rs4532
DRD2
Decreased Activity
rs1799978
ERCC1
Decreased Activity
rs3212986, rs11615, rs735482
F2
Prothrombin Mutation
G20210A
F5
Increased Activity
rs6025
FAAH
Decreased Activity
rs324420
G6PD
Decreased Activity
A, A-202A_376G, A-376G_968C, Alhambra, Andalus, Beverly Hills, Canton, Cassano, Chatham, Chinese-3, Chinese-4, Coimbra, Cosenza, Fushan, Guadalajara, Ilesha, Iowa, Kaiping, Kalyan, Lagosanto, Mahidol, Mediterranean, Metaponto, Minnesota, Mt. Sinai, Nara, Nashville, Olomouc, Pawnee, Plymouth, Praba, Puetro Limon, Santamaria, Santiago, Santiago de Cuba, Sao Boria, Shinshu, Sibari, Telti, Tomah, Ube, Union, Viangchan, West Virginia
GRIK4
Decreased Activity
rs1954787
GSTP1
Decreased Activity
rs1695
Carbamazepine ADR
*1502
Abacavir Hypersensitivity
*5701
Allopurinol ADR
*5801
HTR1A
Decreased Activity
rs1800044, rs6295
HTR2A
Decreased Activity
rs7997012
HTR2C
Decreased Activity
rs1414334, rs3813929
IFNL3
Decreased Activity
rs12979860, rs8099917
ITPA
Decreased Activity
rs1127354, rs7270101
KIF6
Decreased Activity
rs20455
MTHFR
Decreased Activity
C677T, A1298C
Active
*4, *12, *13
Inactive
*5, *6, *7
NOS1AP
Decreased Activity
rs10494366, rs10800397, rs10919035
NQO1
Decreased Activity
rs1800566
OPRM1
Decreased Activity
rs1799971, rs510769
SCN2A
Decreased Activity
rs2304016
SLC6A4
Decreased Activity
5-HTTLPR LA, 5-HTTLPR LG, 5-HTTLPR S
SLCO1B1
Decreased Activity
*5
Active
*1
Inactive
*2, *3A, *3B, *3C, *4
UGT1A1
Decreased Activity
*28
UGT2B15
Decreased Activity
rs1902023
VKORC1
Increased Warfarin Sensitivity
-1639G>A
Decreased Activity
rs25487
CYP4F2
DPYD
HLA-B
NAT2
TPMT
XRCC1
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 26 of 27
SAMPLE REPORT
Admera Health, LLC 126 Corporate Blvd ā South Plainfield, NJ 07080 +1-908-222-0533ā
[email protected]
Assay Methodology and Limitations for PGxOnePlus Panel: Pharmacogenomics testing to assess how a patient may respond to prescribed drugs was performed by massively parallel Next Generation Sequencing (NGS). PGxOnePlus was developed, and assessed for accuracy and precision by Admera Health, South Plainfield NJ. The sensitivity and specificity of this test is 100% and 100% respectively. PGxOnePlus has not been cleared or approved by the U.S. Food and Drug Administration (FDA) but the FDA has determined that such clearance or approval is not necessary. The PGxOnePlus test is used for clinical purposes. It should not be regarded as investigational or for research. Drug interaction information is based upon data available in scientific literature and prescribing information for the most commonly prescribed drugs. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. The DNA testing is not a substitute for clinical monitoring.
Warnings & Precautions for PGxOnePlus Recommended Drugs: %XSUHQRUSKLQH6XEXWH[ http://www.rxlist.com/cgi/generic3/suboxone.htm &RGHLQH&RGHLQH http://www.rxlist.com/cgi/generic/codphos.htm )HQWDQ\O'XUDJHVLF http://www.rxlist.com/cgi/generic2/fentanyl.htm +\GURFRGRQH9LFRGLQ http://www.rxlist.com/cgi/generic/hydrocod.htm 0HWKRWUH[DWH7UH[DOO http://www.rxlist.com/cgi/generic/mtx.htm 2[\FRGRQH2[\FRQWLQ http://www.rxlist.com/cgi/generic/oxyco.htm 3HPHWUH[HG$OLPWD http://www.rxlist.com/cgi/generic3/alimta.htm
General Pharmacogenomics References: 1.
Drug labels with pharmacogenomics information: https://www.pharmgkb.org/view/drug-labels.do
2.
Pharmacogenomics drug dosing guidelines: https://www.pharmgkb.org/view/dosing-guidelines.do
3.
FDA Orange Book Search Engine: http://www.accessdata.fda.gov/scripts/cder/ob/default.cfm
4.
Warfarin dosing guideline: Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing
Disclaimer of Liability: The information contained in this report is provided as a service and does not constitute medical advice. At the time of report generation this information is believed to be current and is based upon published research; however, research data evolves and amendments to the prescribing information of the drugs listed will change over time. While this report is believed to be accurate and complete as of the date issued, THE DATA IS PROVIDED "AS IS", WITHOUT WARRANTIES OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING WITHOUT LIMITATION, THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. As medical advice must be tailored to the specific circumstances of each case, the treating health care professional has ultimate responsibility for all treatment decisions made with regard to a patient including any made on the basis of a patient's genotype.
Electronic Signature
Laboratory Director ABMG Certified, Clinical Molecular Genetics
PGxOnePlus Report for Smith, John
/DERUDWRU\'LUHFWRU'U-DPHV'HUPRG\&/,6,'&/,$,''
Page 27 of 27