Oncology

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

Recommend Documents