SAMPLE REPORT MENTAL HEALTH DNA INSIGHT LABORATORY … · May Cause Serious Adverse Events Drug...

PERSONAL DETAILSNAME SAMPLE PATIENTDOB Jan 1, 19XXGENDER METHNICITY Caucasian

ORDERING HEALTHCAREPROFESSIONALGlenn Braunstein M.D.

4755 Nexus Center Drive

San Diego, CA 92121 US

MENTAL HEALTH DNA INSIGHT®

Protected Health Information

Test Results Reviewed & Approved by:Laboratory Director,Nilesh Dharajiya, M.D.

LABORATORY INFO

ACCESSIONNUMBER

G5621353

ACTIVATIONCODE

PGTST-YERTG

SPECIMEN TYPE SALIVA

COLLECTEDDATE

Feb 19, 2016

RECEIVED DATE Feb 22, 2016

REPORT DATE Mar 7, 2016

Drug Class Drug Preferential Use Use As DirectedMay Have Significant

LimitationsMay Cause Serious

Adverse Events

Citalopram

Escitalopram

Fluoxetine

Fluvoxamine

Paroxetine

Sertraline

SSRIs

Vilazodone

Amitriptyline

Clomipramine

Desipramine

Doxepin

Imipramine

Nortriptyline

Protriptyline

TCAs

Trimipramine

Bupropion

Buspirone

Duloxetine

Levomilnacipran

Mirtazapine

Nefazodone

Trazodone

Venlafaxine

Other Antidepressants

Vortioxetine

See Disclaimer(s) on page 9 of this Report · Copyright © 2016 Pathway Genomics · All Rights Reserved. Patents Pending.

Laboratory Director: Nilesh Dharajiya, M.D. CLIA Number: 05D1092505 · 4755 Nexus Center Drive, San Diego, CA 92121 · http://www.pathway.com/ PAGE 1 of 10

SAMPLE REPORT

Drug Class Drug Preferential Use Use As DirectedMay Have Significant

LimitationsMay Cause Serious

Adverse Events

Aripiprazole

Asenapine

Clozapine

Iloperidone

Lurasidone

Olanzapine

Paliperidone

Quetiapine

Risperidone

Atypical Antipsychotics

Ziprasidone

Haloperidol

Perphenazine

Pimozide

Thioridazine

Typical Antipsychotics

Zuclopenthixol

Carbamazepine

Divalproex

Lamotrigine

Oxcarbazepine

Phenytoin

Mood Stabilizers

Valproic acid

NorepinephrineReuptake Inhibitor

Atomoxetine

Alprazolam

ClobazamBenzodiazepines

Diazepam

Dextromethorphanand Quinidine

Galantamine

ModafinilOthers

Tetrabenazine



NAME SAMPLE PATIENTGENDER MACCESSION # G5621353REPORT DATE Mar 7, 2016



SAMPLE REPORT

May Cause Serious Adverse Events

Drug Class Drug Comments

Carbamazepine Patient is likely to have at least one copy of HLA-B*1502 allele, therefore, has increasedrisk of developing serious skin reactions, such as Stevens-Johnson syndrome or toxicepidermal necrolysis (SJS/TEN), when treated with carbamazepine. Carbamazepinetreatment should not be started in this patient unless the risk is clearly outweighed by thebenefit. Patients who test positive for the HLA-B*1502 allele and have been takingcarbamazepine for more than a few months without developing skin reactions have a lowrisk of becoming hypersensitive. HLA-B*1502-positive patients could also be advised toavoid related anticonvulsants, such as phenytoin, lamotrigine and oxcarbazepine. Thegenetic test for this condition is most applicable to patients of Han Chinese descent. Ifclinically indicated, patients of other Asian ethnicities could be advised to undergo HLAsequencing to assess their risk of carbamazepine hypersensitivity. Other HLA alleles havebeen shown to be associated with carbamazepine hypersensitivity in people of Caucasianand Japanese descent, in whom HLA-B*1502 is largely absent.

Lamotrigine Patient is likely to have at least one copy of HLA-B*1502 allele, therefore, has increasedrisk of developing serious skin reactions, such as Stevens-Johnson syndrome or toxicepidermal necrolysis (SJS/TEN), when treated with lamotrigine. The use of lamotrigine inthis patient should be carefully considered. Patients who test positive for the HLA-B*1502allele and have been taking lamotrigine for more than a few months without developingskin reactions have a low risk of becoming hypersensitive. HLA-B*1502-positive patientscould also be advised to avoid related anticonvulsants, such as carbamazepine,phenytoin and oxcarbazepine. The genetic test for this condition is most applicable topatients of Han Chinese descent. If clinically indicated, patients of other Asian ethnicitiescould be advised to undergo HLA sequencing to assess their risk of lamotriginehypersensitivity. Other HLA alleles have been shown to be associated with lamotriginehypersensitivity in people of Caucasian and Japanese descent, in whom HLA-B*1502 islargely absent.

Oxcarbazepine Patient is likely to have at least one copy of HLA-B*1502 allele, therefore, has increasedrisk of developing serious skin reactions, such as Stevens-Johnson syndrome or toxicepidermal necrolysis (SJS/TEN), when treated with oxcarbazepine. The use ofoxcarbazepine in this patient should be carefully considered. Patients who test positive forthe HLA-B*1502 allele and have been taking oxcarbazepine for more than a few monthswithout developing skin reactions have a low risk of becoming hypersensitive. HLA-B*1502-positive patients could also be advised to avoid related anticonvulsants, such ascarbamazepine, phenytoin and lamotrigine. The genetic test for this condition is mostapplicable to patients of Han Chinese descent. If clinically indicated, patients of otherAsian ethnicities could be advised to undergo HLA sequencing to assess their risk ofoxcarbazepine hypersensitivity. Other risk factors may contribute to oxcarbazepinehypersensitivity in people of Caucasian and Japanese descent, in whom HLA-B*1502 islargely absent.

Mood Stabilizers

Phenytoin Patient is likely to have at least one copy of HLA-B*1502 allele, therefore, has increasedrisk of developing serious skin reactions, such as Stevens-Johnson syndrome or toxicepidermal necrolysis (SJS/TEN), when treated with phenytoin. The use of phenytoin inthis patient should be carefully considered. HLA-B*1502-positive patients could also beadvised to avoid related anticonvulsants, such as carbamazepine, lamotrigine andoxcarbazepine. This genetic test is most applicable to patients of Han Chinese descent. Ifclinically indicated, patients of other Asian ethnicities may be advised to undergo HLAsequencing to assess their risk of phenytoin hypersensitivity. There are insufficient data toassociate HLA-B*1502 with phenytoin hypersensitivity in other ethnicities.






SAMPLE REPORT

May Have Significant Limitations


Citalopram Patient's SLC6A4 genotype is associated with increased risk of adverse effects, such asheadache, nausea, drowsiness, agitation, sexual dysfunction or weight gain, whencitalopram is used to treat major depressive disorder. Special note for Asian patients: theassay does not test for some SLC6A4 alleles that are mostly found in Asians. Theseuntested alleles cannot be distinguished from the "S" alleles that are tested in this assay.The combined frequency of the untested alleles, whose functional impact is not wellunderstood, is about 10% in Asians, whereas the combined frequency of the "S" allelesthat can be correctly identified by this assay is about 80% in Asians. Please see thepatient's genotype details at the end of the report.

Fluoxetine Patient's SLC6A4 genotype is associated with increased risk of adverse effects, such asheadache, nausea, drowsiness, agitation, sexual dysfunction or weight gain, whenfluoxetine is used to treat major depressive disorder. Special note for Asian patients: theassay does not test for some SLC6A4 alleles that are mostly found in Asians. Theseuntested alleles cannot be distinguished from "S" alleles that are tested in this assay. Thecombined frequency of the untested alleles, whose functional impact is not wellunderstood, is about 10% in Asians, whereas the combined frequency of the "S" allelesthat can be correctly identified by this assay is about 80% in Asians. Please see thepatient's genotype details at the end of the report.

Fluvoxamine Patient's SLC6A4 genotype is associated with increased risk of adverse effects, such asheadache, nausea, drowsiness, agitation, sexual dysfunction or weight gain, whenfluvoxamine is used to treat major depressive disorder. Special note for Asian patients:the assay does not test for some SLC6A4 alleles that are mostly found in Asians. Theseuntested alleles cannot be distinguished from the "S" alleles that are tested in this assay.The combined frequency of the untested alleles, whose functional impact is not wellunderstood, is about 10% in Asians, whereas the combined frequency of the "S" allelesthat can be correctly identified by this assay is about 80% in Asians. Please see thepatient's genotype details at the end of the report.

SSRIs

Paroxetine Patient's SLC6A4 genotype is associated with increased risk of adverse effects, such asheadache, nausea, drowsiness, agitation, sexual dysfunction or weight gain, whenparoxetine is used to treat major depressive disorder. Special note for Asian patients: theassay does not test for some SLC6A4 alleles that are mostly found in Asians. Theseuntested alleles cannot be distinguished from the "S" alleles that are tested in this assay.The combined frequency of the untested alleles, whose functional impact is not wellunderstood, is about 10% in Asians, whereas the combined frequency of the "S" allelesthat can be correctly identified by this assay is about 80% in Asians. Please see thepatient's genotype details at the end of the report.

Other Antidepressants Venlafaxine Patient's SLC6A4 genotype is associated with a decreased response to venlafaxine.Special note for Asian patients: the assay does not test for some SLC6A4 alleles that aremostly found in Asians. These untested alleles cannot be distinguished from the "S"alleles that are tested in this assay. The combined frequency of the untested alleles,whose functional impact is not well understood, is about 10% in Asians, whereas thecombined frequency of the "S" alleles that can be correctly identified by this assay isabout 80% in Asians. Please see the patient's genotype details at the end of the report.

Benzodiazepines Alprazolam This patient is likely to have increased plasma concentrations of alprazolam and reducedoral clearance of alprazolam at standard doses. Due to the limited clinical evidence, thereare no specific recommendations on dose adjustment of alprazolam.






SAMPLE REPORT

Use As Directed


Escitalopram

Sertraline

SSRIs

Vilazodone

The most recent label for this drug should be consulted for up-to-date dosing guidelinesand limitations.

Amitriptyline

Clomipramine

Desipramine

Doxepin

Imipramine

Nortriptyline

Protriptyline

TCAs

Trimipramine


Bupropion

Buspirone

Duloxetine

Levomilnacipran

Mirtazapine

Nefazodone

Trazodone

Other Antidepressants

Vortioxetine


Aripiprazole

Asenapine

Clozapine

Iloperidone

Lurasidone

Olanzapine

Paliperidone

Quetiapine

Risperidone

Atypical Antipsychotics

Ziprasidone







SAMPLE REPORT

Use As Directed (Continued)


Haloperidol

Perphenazine

Pimozide

Thioridazine

Typical Antipsychotics

Zuclopenthixol


DivalproexMood Stabilizers

Valproic acid


NorepinephrineReuptake Inhibitor

Atomoxetine The most recent label for this drug should be consulted for up-to-date dosing guidelinesand limitations.

ClobazamBenzodiazepines

Diazepam


Dextromethorphanand Quinidine

Galantamine

Modafinil

Others

Tetrabenazine







SAMPLE REPORT

GENOTYPE/HAPLOTYPE DETAIL

PHARMACOGENETICS

This section lists the genetic markers that were tested. Results are organized by gene. Each gene has up to three sections, which may includea "Metabolizer Status" section, a "Genetic Result" section and an associated table with three columns. "Metabolizer Status" indicates thepatient's predicted metabolizer status. "Genetic Result" indicates the haplotype, genotype or presence of a mutation. A genetic result thatcontains “ND” indicates that a haplotype could not be determined. “Unable To Report” indicates that no result can be provided.

In the tables, results are organized by gene in three columns:

1. “Gene/Locus” refers to the gene or intergenic region where the marker is located.

2. “Marker” refers to the unique identifier of the tested marker.

3. “Genotype” refers to the combination of nucleotides at a particular marker. The letter(s) on each side of the slash refer(s) to the twocopies of the patient’s DNA. "Del" indicates a deletion of the nucleotide(s) in the patient's DNA. A genotype of “- -“ indicates that aresult could not be obtained.

CYP1A2GENE/LOCUS MARKER GENOTYPE

CYP1A2 rs762551 C/C

CYP2B6

Metabolizer Status: Extensive Metabolizer

Genetic Result: CYP2B6 *1/*4

GENE/LOCUS MARKER GENOTYPE

CYP2B6 rs2279343 A/G

CYP2B6 rs3211371 C/C

CYP2B6 rs3745274 G/G

CYP2B6 rs8192709 C/C

CYP2B6 rs28399499 A/A

CYP2C19


Genetic Result: CYP2C19 *1/*1


CYP2C19 rs4244285 G/G

CYP2C19 rs4986893 G/G

CYP2C19 rs12248560 C/C

CYP2C19 rs28399504 A/A

CYP2C19 rs41291556 T/T

CYP2C19 rs56337013 C/C

CYP2C19 rs72552267 G/G

CYP2C19 rs72558186 T/T

CYP2C9


Genetic Result: CYP2C9 *1/*1


CYP2C9 rs1057910 A/A

CYP2C9 rs1799853 C/C

CYP2C9 rs9332131 A/A

CYP2D6


Genetic Result: CYP2D6 *1/*1


CYP2D6 rs16947 C/C

CYP2D6 rs769258 G/G

CYP2D6 rs1065852 C/C


CYP2D6 rs3892097 G/G

CYP2D6 rs5030655 T/T

CYP2D6 rs5030656 AAG/AAG

CYP2D6 rs5030862 G/G



CYP2D6 rs5030867 A/A

CYP2D6 rs28371706 C/C

CYP2D6 rs28371725 G/G

CYP2D6 rs35742686 A/A

CYP2D6 rs59421388 C/C

CYP2D6 rs72549357 T/T

CYP3A4GENE/LOCUS MARKER GENOTYPE

CYP3A4 rs4646438 A/A

CYP3A4 rs35599367 C/C

CYP3A4 rs55901263 C/C

CYP3A4 rs55951658 A/A

CYP3A4 rs67666821 A/A

CYP3A4 rs138105638 C/C

CYP3A5

Metabolizer Status: Non-Expressor

Genetic Result: CYP3A5 *3/*3


CYP3A5 rs776746 C/C

DRD2GENE/LOCUS MARKER GENOTYPE

DRD2 rs1799732 C/C

HLA-A

Genetic Result: HLA-A x/x


HLA Region rs1061235 A/A

HLA-B

Genetic Result: HLA-B *1502/x


HLA Region rs2844682 T/T

HLA Region rs3909184 G/C






SAMPLE REPORT

HTR2AGENE/LOCUS MARKER GENOTYPE

HTR2A rs7997012 A/G

HTR2AGENE/LOCUS MARKER GENOTYPE

HTR2A rs6311 A/G

HTR2CGENE/LOCUS MARKER GENOTYPE

HTR2C rs1414334 G/G

HTR2C rs3813929 G/G

POLGGENE/LOCUS MARKER GENOTYPE

POLG rs113994095 G/G



SLC6A4

Genetic Result: SLC6A4 S/S


SLC6A4 5-HTTLPR S/S

SLC6A4 rs25531 --

UGT1A4GENE/LOCUS MARKER GENOTYPE

UGT1A4 rs2011425 C/C






SAMPLE REPORT

TEST METHODOLOGY

Genotyping by PCR-based enrichment and next-generation sequencing or by array-based evaluation of multiple molecular probes.

DISCLAIMER

This test was developed and its performance characteristics determined by Pathway Genomics Corporation. It has not been cleared or approvedby the FDA. The laboratory is regulated under CLIA as qualified to perform high-complexity testing. This test is used for clinical purposes. Itshould not be regarded as investigational or for research.

If you have any questions about this report or wish to speak with one of Pathway Genomics' genetic counselors, please call (877) 505.7374.

RISKS AND LIMITATIONS

Risk of Laboratory Technical Problems or Laboratory Error

The certified testing laboratory has standard and effective procedures in place to protect against technical and operational problems. However,such problems may still occur. The testing laboratory receives samples collected by patients and physicians. Problems in shipping to thelaboratory or sample handling can occur, including but not limited to damage to the specimen or related paperwork, mislabeling, and loss ordelay of receipt of the specimen. Laboratory problems can occur that might lead to inability to obtain results. Examples include, but are notlimited to, sample mislabeling, DNA contamination, un-interpretable results, and human and/or testing system errors. In such cases, the testinglaboratory may need to request a new sample. However, upon re-testing, results may still not be obtainable.

As with all medical laboratory testing, there is a small chance that the laboratory could report inaccurate information. For example, the laboratorycould report that a given genotype is present when in fact it is not. Any kind of laboratory error may lead to incorrect decisions regarding medicaltreatment and/or diet and fitness recommendations. If a laboratory error has occurred or is suspected, a health care professional may wish topursue further evaluation and/or other testing. Further testing may be pursued to verify any results for any reason.

Limitations

The purpose of this test is to provide information about how a tested individual’s genes may affect carrier status for some inherited diseases,responses to some drugs, risk for specific common health conditions, and/or selected diet, nutrition and/or exercise responses, as well as tolearn more about the tested individual’s ancient ancestry, depending upon the specific genetic testing that is ordered by the health careprofessional. Tested individuals should not make any changes to any medical care (including but not limited to changes to dosage or frequencyof medications, diet and exercise regimens, or pregnancy planning) based on genetic testing results without consulting a health careprofessional.

The science behind the significance or interpretation of certain testing results continues to evolve. Although great strides have been made toadvance the potential usefulness of genetic testing, there is still much to be discovered. Genetic testing is based upon information,developments and testing techniques that are known today. Future research may reveal changes in the interpretation of previously obtainedgenetic testing results. For example, any genetic test is limited by the variants being tested. The interpretation of the significance of somevariants may change as more research is done about them. Some variants that are associated with disease, drug response, or diet, nutrition andexercise response may not be tested; possibly these variants have not yet been identified in genetic studies.

Many of the conditions and drug responses that are tested are dependent on genetic factors as well as nongenetic factors such as age, personalhealth and family health history, diet, and ethnicity. As such, an individual may not exhibit the specific drug response, disease, or diet, nutritionand exercise response consistent with the genetic test results.

Another limitation for some conditions, particularly in the areas of diet and exercise, is that genetic associations have been studied and observedin Caucasian populations only, and in some cases only in one gender. In this case, the interpretations and recommendations are made in thecontext of Caucasian studies, but the results may or may not be relevant to tested individuals who are of non-Caucasian or mixed ethnicities orthe non-studied gender. If patient ethnicity is not disclosed in the test requisition form the ethnicity field in the report will read as "Ethnicity: NotReported". Such reports will be defaulted to phenotype list displayed for Caucasian ethnicity.

Based on test results and other medical knowledge of the tested individual, health care professionals might consider additional independenttesting, or consult another health care professional or genetic counselor.






SAMPLE REPORT

RESULT STATUS DEFINITIONS

Amended Test results and/or patient information that have been revised in a way that doesnot impact the clinical significance of the result(s) and/or patient diagnosis,treatment or management.

Corrected Test results and/or patient information that have been revised in a way that mayimpact the clinical significance of the result(s) and/or patient diagnosis, treatmentor management.

Final Test results that are available at the time of report issue or have been revisedfrom pending status to final status.

Pending Test results that are not available at the time of report issue. All pending resultswill be specified in the report.






SAMPLE REPORT

SAMPLE REPORT

SAMPLE REPORT MENTAL HEALTH DNA INSIGHT LABORATORY … · May Cause Serious Adverse Events Drug...

Documents

Transcript of SAMPLE REPORT MENTAL HEALTH DNA INSIGHT LABORATORY … · May Cause Serious Adverse Events Drug...