genedose genetic response report - capstone healthcare · 2020. 1. 27. · ex2 - doe, + - reported...

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ISPM Labs d/b/a Capstone Healthcare 8601 Dunwoody Pl, Ste 444 • Atlanta GA 30350 Phone: (678) 515-4524 • Fax: (470) 355-5462 Laboratory Director: John Hanson, PhD CLIA ID Number: 11D2073885 http://www.capstonehealthcare.com This report combines (i) an analysis of the patient’s DNA by ISPM Labs d/b/a Capstone Healthcare, identifying relevant genetic variants that are informative for medication efficacy, safety, and dosing, with (ii) an interpretation of the identified DNA variants by Coriell Life Sciences to bring you immediately actionable clinical guidance regarding safer and more effective medications and dosages for the patient. Patient: Doe, Jane Date of Birth: Jan 01, 1990 Sample Collected: September 10, 2018 Sample Accessioned: September 11, 2018 Report Date: September 14, 2018 Accession Number: 01N2478965 GeneDose Live Individualized, additional therapeutic decision support information based on Jane Doe's genetics, drug regimen, indications, demographics, and lifestyle indicators are available at GeneDose Live via this secured URL: https://alpha.genedose.com GeneDose Key: ACAZPCM6P Sample ID: ex2018 When multiple activities are listed, check information in Medication Report Details (Pg. 11) for specific medication of interest. Uncertain = No known diplotype/result (name) or activity for this combination of genetic variants; Uninterpretable Genotype. Genetic Summary Gene Result Activity ApoE ɛ3|ɛ3 See ApoE Genotype Info. CYP2C19 *8|*8 Poor metabolizer CYP2C9 *1|*1 Extensive metabolizer CYP2D6 *1|*1x2 Ultrarapid metabolizer CYP3A4 *1B|*1B Ultrarapid metabolizer CYP3A5 *1A|*1A; or *1A|*1D; or Extensive metabolizer G6PD C|C n/a Factor V Leiden Variant See thrombosis profile HLA-B*1502 WT|WT WT MTHFR (A1298C) Variant See thrombosis profile MTHFR (C677T) Variant See thrombosis profile Prothrombin (F2) Normal See thrombosis profile A|T Altered Activity C|C Normal Activity GeneDose Genetic Response Report Powered by: ex2018 - Doe, J. - Reported Sep 14, 2018 - DRAFT The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen. Page 1 of 2 ANKK1 *8|*8 Poor metabolizer ATM *8|*8 Poor metabolizer ABCB1 *1|*36 Altered Activity CYP1A2 *8|*8 Uncertain CYP2B6 *8|*8 Poor metabolizer C|C Normal Activity GRIK1 GRIK4 HTR2A Physician: John Smith, M.D. Practice: Family Medical Center Gene Result Activity HTR2C A|A Uncertain IFNL3 1|*2 Altered function OPRM1 *1|*1 Extensive Metabolizer SLC6A4 *1|*28 Normal function SLCO1B1 *1|*1 Normal liver uptake activity VKORC1 *1|*2 Reduced (with respect to Warfarin)

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Page 1: GeneDose Genetic Response Report - Capstone Healthcare · 2020. 1. 27. · ex2 - Doe, + - Reported 4FQUFNCFS - DRAFT Powered by: The information contained in this report is intended

ISPM Labs d/b/a Capstone Healthcare8601 Dunwoody Pl, Ste 444 • Atlanta GA 30350 Phone: (678) 515-4524 • Fax: (470) 355-5462 Laboratory Director: John Hanson, PhD CLIA ID Number: 11D2073885 http://www.capstonehealthcare.com

This report combines (i) an analysis of the patient’s DNA by ISPM Labs d/b/a Capstone Healthcare, identifying relevant genetic variants that are informative

for medication efficacy, safety, and dosing, with (ii) an interpretation of the identified DNA variants by Coriell Life Sciences to bring you immediately

actionable clinical guidance regarding safer and more effective medications and dosages for the patient.

Patient: Doe, Jane

Date of Birth: Jan 01, 1990

Sample Collected: September 10, 2018 Sample

Accessioned: September 11, 2018

Report Date: September 14, 2018

Accession Number: 01N2478965

GeneDose Live

Individualized, additional therapeutic decision support information based on Jane Doe's genetics, drug regimen, indications, demographics, and lifestyle indicators are available at GeneDose Live via this secured URL:

https://alpha.genedose.com

GeneDose Key: ACAZPCM6P Sample ID: ex2018

† When multiple activities are listed, check information in MedicationReport Details (Pg. 11) for specific medication of interest.Uncertain = No known diplotype/result (name) or activity for thiscombination of genetic variants; Uninterpretable Genotype.

Genetic Summary

Gene Result Activity †

ApoE ɛ3|ɛ3 See ApoE Genotype Info.

CYP2C19 *8|*8 Poor metabolizer

CYP2C9 *1|*1 Extensive metabolizer

CYP2D6 *1|*1x2 Ultrarapid metabolizer

CYP3A4 *1B|*1B Ultrarapid metabolizer

CYP3A5 *1A|*1A; or*1A|*1D; or

Extensive metabolizer

6P C|C n/a

Factor V Leiden Variant See thrombosis profile

HLA-B*1502 WT|WT WT

MTHFR (A1298C) Variant See thrombosis profile

MTHFR (C677T) Variant See thrombosis profile

Prothrombin (F2) Normal See thrombosis profile

A|T Altered Activity

C|C Normal Activity

GeneDose Genetic Response Report

Powered by:ex2018 - Doe, J. - Reported Sep 14, 2018 - DRAFT

The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.

Page 1 of 2

ANKK1 *8|*8 Poor metabolizer

ATM *8|*8 Poor metabolizer

ABCB1 *1|*36 Altered Activity

CYP1A2 *8|*8 Uncertain

CYP2B6 *8|*8 Poor metabolizer

C|C Normal Activity

GRIK1

GRIK4

HTR2A

Physician: John Smith, M.D.

Practice: Family Medical Center

Gene Result Activity †

HTR2C A|A Uncertain

IFNL3 1|*2 Altered function

OPRM1 *1|*1 Extensive Metabolizer

SLC6A4 *1|*28 Normal function

SLCO1B1 *1|*1 Normal liver uptakeactivity

VKORC1 *1|*2 Reduced (with respect toWarfarin)

Page 2: GeneDose Genetic Response Report - Capstone Healthcare · 2020. 1. 27. · ex2 - Doe, + - Reported 4FQUFNCFS - DRAFT Powered by: The information contained in this report is intended

Current Regimen Risk Chart

0 to 5 - Few risks; 6 to 20 - Moderate risk; 20+ - Significant risk

Genetic Drug interaction Anticholinergic burden LifestyleADR (Black box)

Epitol, Tegretol (Carbam…

Codeine

Zoloft (Sertraline)

BRIVIACT (Brivaracetam)

Folicet (Folic Acid)

Absorica, Accutane, Am…

0 5 10 15 20 25 30 35

This chart summarizes the various risk factors associated with each medication entered into GeneDose™ Live for Jane Doe. The length of each colored segment

represents the relative contribution of a risk category (detailed in the below legend) to the overall risk associated with the use of a medication. For further

information, consult the Current Regimen Risk Details Pg. 3 section.

For further assistance in choosing alternative medications to reduce this patient’s risk, use the modeling tool at https://alpha.genedose.com?token=prompt.

GeneDose Genetic Response Report

Powered by:ex2018 - Doe, J.- Reported September 14, 2018 - DRAFT

The information contained in this report is intended to be interpreted by a licensed physician or other licensed healthcare professional. This report is not intended to take the place of professional medical advice. Decisions regarding use of prescribed medications must be made only after consulting with a licensed physician or other licensed healthcare professional, and should consider each patient's medical history and current treatment regimen.

Page 2 of 2