Report Contents

  1. Coriell Personalized Medicine Collaborative Research Study Report. This report includes all data included in the clinical report as well as supplemental drug specific interpretations and educational material.
  2. Clinical Report. This report was generated and approved by Coriell’s CLIA certified genotyping laboratory.

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Coriell Institute for Medical Research
403 Haddon Avenue
Camden, New Jersey 08103 USA
Phone: 888-580-8028
Fax: 856-964-0254
cpmc.coriell.org
CPMC Research Study Report
Name: STEVE CPMC
Date of Birth:
Coriell ID: DEMOSTEVE
Lab Accessioning Number: DEMOSTEVE
Ordering Physician:
Gender: Male
Date Collected:
Date Received:
Date of Report: 07/05/2013

CYP2C19 and Proton Pump Inhibitor (PPI) Response

These results were generated in a CLIA-approved laboratory as part of the Coriell Personalized Medicine Collaborative research study. Results take into account 10 genetic variants in the CYP2C19 gene, known to contribute to the metabolism of proton pump inhibitor (PPI) drugs such as omeprazole (Prilosec®, Zegerid®), lansoprazole (Prevacid®), pantoprazole (Protonix®), rabeprazole (Aciphex®), esomeprazole (Nexium®), dexlansoprazole (Kapidex®, renamed Dexilant®). This report reflects this participant’s metabolism status predicted based on genetic testing but does not reflect whether they are currently taking a proton pump inhibitor drug.

The CPMC has genetic counselors available to assist with report interpretation at no charge. For questions please contact us at cpmcgc@coriell.org or by phone at 888-580-8028. Participants may schedule an appointment with one of our board certified genetic counselors by logging into their web portal account and clicking on “request an appointment”. For general information about the CPMC please visit our website cpmc.coriell.org.

This research report includes all data included in the clinical report as well as supplemental drug specific interpretations and educational material. Please see the report that follows for the official clinical report.

Your Genetic Result

CPMC tested multiple sites of genetic variation within the CYP2C19 gene that affect the way the body responds to PPIs.

Your combination of genetic variant results is listed below in yellow.
Your CYP2C19* result is:

CYP2C19*1/*17
(PPI Metabolizer Status Uncertain)

VARIANTS TESTEDYOUR RESULTREFERENCE VALUE
rs4244285 (CYP2C19*2) GG G G
rs4986893 (CYP2C19*3) GG G G
rs28399504 (CYP2C19*4) AA A A
rs56337013 (CYP2C19*5) CC C C
rs72558184 (CYP2C19*6) GG G G
rs72558186 (CYP2C19*7) TT T T
rs41291556 (CYP2C19*8) TT T T
rs17884712 (CYP2C19*9) GG G G
rs6413438 (CYP2C19*10) CC C C
rs12248560 (CYP2C19*17) CT C C
1When your variant result for all CYP2C19 variants tested are the same as the reference, the combined genetic result is called CYP2C19*1/*1. In some cases your combined genetic result may be uncertain. Other variants, not currently included in this CPMC test may influence this result and interpretation.

Interpretation of Your Results

PPI Metabolizer Status Uncertain
CYP2C19 Result: CYP2C19*1/*17
  • The impact of your genetic combination on response to PPIs is not known.
  • This result may also affect your response to other medications. For more information on other medications that are affected by the CYP2C19 gene, click here.

How Common

The table and picture below show the different types of PPI metabolizers and how common each is in the Caucasian population.

Reduced CYP2C19 activity

Poor Metabolizer

2 out of 100 people

Expected to respond very well to a standard dose of a PPI.
PPI Poor Metabolizer PPI Poor Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer
PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer
PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Intermediate Metabolizer PPI Extensive Metabolizer
PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer
PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer
PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer
PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Extensive Metabolizer PPI Ultra-Rapid Metabolizer PPI Ultra-Rapid Metabolizer PPI Ultra-Rapid Metabolizer
PPI Ultra-Rapid Metabolizer PPI Ultra-Rapid Metabolizer PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown
PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown
PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown PPI Metabolizer Status Unknown

Intermediate Metabolizer

27 out of 100 people

Expected to respond very well to a standard dose of a PPI.
Typical CYP2C19 activity

Extensive Metabolizer

38 out of 100 people

Expected to respond to a standard dose of a PPI.
Increased CYP2C19 activity

Ultra-Rapid Metabolizer

5 out of 100 people

Less likely to respond to a standard dose of a PPI.
Uncertain CYP2C19 activity

Metabolizer Status Unknown

28 out of 100 people

Not enough data to determine expected PPI response.

What are Proton Pump Inhibitors?

(examples include: omeprazole (Prilosec®, Zegerid®), lansoprazole (Prevacid®), pantoprazole (Protonix®), rabeprazole (Aciphex®), esomeprazole (Nexium®), dexlansoprazole (Kapidex®/Dexilant®).
Proton pump inhibitors (PPIs) are drugs that reduce the amount of acid made by the stomach.

Uses:
  • Treatment of acid reflux that can cause heartburn or esophagitis (inflammation of the throat), sometimes called gastroesophageal reflux disease (GERD or GORD).
  • Treatment of ulcers in the stomach and duodenum.
  • To prevent stomach ulcers caused by non-steroidal anti-inflammatory drugs (NSAIDs).
  • Treatment of a bacterial infection in the stomach, called Helicobacter pylori which can cause ulcers.
Risk Factors Affecting Response to Proton Pump Inhibitors

Genetic Risk Factors

Genetic variants, or changes, in a gene called CYP2C19 can affect the way your body metabolizes PPIs.

Some people with certain genetic variants may not benefit as much from taking a standard dose of PPIs compared to people without these variants. These people are likely to benefit from a higher than standard dose.

Non-Genetic Risk Factors

Many factors affect how your body responds to medications.

Non-genetic factors include: diet, lifestyle, medical history and interactions between medications.

Genetic Risk Factors

Some medications are metabolized (broken down or activated) by enzymes. Variants in the genes coding for these enzymes may cause your body to metabolize a medication more quickly or more slowly than normal. This change can affect how well the medication works, as well as the risk of side effects.

Genes Affecting PPI Metabolism:

CYP2C19

Types of Variants in CYP2C19

There are many variants in the CYP2C19 gene. A number system has been created to name common combinations of variants. Some variant combinations have not been assigned a number yet. Other combinations of variants cannot be assigned a number with certainty. We all have 2 copies of every gene; when possible, you will have a CYP2C19 result with two numbers.


Example: CYP2C19 *1/*2

Types of PPI Metabolizers

Each result is associated with a metabolizer status which describes how the enzyme is working.


Example: intermediate metabolizer

Your personal result can be found by clicking on the RESULTS tab above.

Drug-Drug Interactions

In addition to your genes, how your body metabolizes PPIs may prevent other medications that you take from working effectively and may increase the risk of side effects associated with these other medications.

The following medications, when taken with a PPI, may reduce the benefit of taking the other medication or may increase the risk for side effects from the other medication:

MedicationAlso Known As
topotecan Hycamtin®
clopidogrel Plavix®
ketoconazole Nizoral®
warfarin Coumadin®, Athrombin®
sucralfate Carafate®, Sulcrate®
voriconazole VFEND®
cilostazol Pletal®
Antiretroviral Agents Saquinavir (Invirase®), atazanavir (Reyataz®), nelfinavir (Viracept®)

Click on the links below to learn more about medications that the following PPIs interact with:

Share these results with your healthcare providers.

Print Report

DO NOT MAKE CHANGES TO ANY MEDICATION WITHOUT TALKING TO YOUR HEALTHCARE PROVIDERS.


Result Limitations

  • This result alone does NOT predict your total response to PPIs.
  • Other factors such as body weight, various health conditions, and other medications may impact an individual’s response to PPIs.
  • There may be other genetic variants within the CYP2C19 gene which influence response to PPIs but are not included in this test.
  • There may be other genetic variants in the CYP2C19 gene for which response to PPIs has not been documented and/or validated in multiple studies.
  • There may be genetic variants in other genes that influence response to PPIs.
  • This result reflects published data available at the time this gene-drug pair was approved by the CPMC Informed Cohort Oversight Board (November 2011). The information provided may change as new scientific information becomes available.
  • Although rare, it is possible that you may receive an incorrect result; 100% accuracy of reported results cannot be guaranteed.
  • Occasionally, we will be unable to interpret one or more gene variants. In this case you will not receive a result for those variants and in some cases your drug response cannot be interpreted. It is expected that you will receive results for about 95% of variants approved by the Pharmacogenetics Advisory Group (PAG) and Informed Cohort Oversight Board (ICOB).
  • Every effort will be made to provide you with risk information based on your reported race/ethnicity. However, data may not be available for all races/ethnicities. Please see your individual results to determine which race/ethnicity the data is based on.
  • In some cases, the CYP2C19 metabolizer status on your Proton Pump Inhibitor report will be different than the CYP2C19 metabolizer status on your Clopidogrel (Plavix®) report. For an explanation of why your CYP2C19 metabolizer status may be different for different drugs, click here.

Test Limitations

DNA-based testing is highly accurate, however there are many sources of potential error including: mis-identification of samples, rare technical errors, trace contamination of PCR reactions, and rare genetic variants that interfere with analysis. This test or one or more of its components was developed and its performance characteristics determined by the Coriell Institute for Medical Research. It has not been approved by the Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary. The Coriell Institute is regulated under the Clinical Laboratory Improvement Amendments (CLIA) of 1988 as qualified to perform high-complexity testing.

Methods

References
  • Baldwin R M, et al. Br J Clin Pharmacol 2008;65(5):767-774.
  • Furuta T, et al. Clin Pharmacol Ther 1999;65(5):552-561.
  • Furuta T, et al. Clin Pharmacol Ther 2002;72(4):453-460.
  • Gawronska-Szklarz B, et al. Eur J Clin Pharmacol 2010;66(7):681-687.
  • Horai Y, et al. Aliment Pharmacol Ther 2001;15(6):793-803.
  • Hu YM, et al. World J Gastroenterol 2006;12(29):4750-4753.
  • Hunfeld NG, et al. Aliment Pharmacol Ther 2010;31(1):150-159.
  • Kawamura M, et al. Aliment Pharmacol Ther 2003;17(7):965-973.
  • Kurzawski M, et al. Eur J Clin Pharmacol 2006;62(10):877-880.
  • Rocha A, et al. Eur J Clin Pharmacol 2008;64(9):901-906.
  • Roh HK, et al. Basic Clin Pharmacol Toxicol 2004;95(3):112-119.
  • Sagar M, et al. Gastroenterology 2000;119(3):670-676.
  • Shirai N, et al. Aliment Pharmacol Ther 2001;15(12):1929-1937.
  • Sim SC, et al. Clin Pharmacol Ther 2006;79(1):103-113.
  • Sugimoto M, et al. J Gastroenterol Hepatol 2009;24(11):1725-1732.
  • Take S, et al. Am J Gastroenterol 2003;98(11):2403-2408.
  • Wang H, et al. Drug Metab Dispos 2011;39(5):830-837.
  • Zendehdel N, et al. Arch Iran Med 2010;13(5):406-412.

Test Methodology

Saliva samples were collected using Oragene DNA Collection Kits (DNA Genotek) and DNA was extracted manually according to the manufacturer’s instructions or automatically using a DNAdvance Kit (Agencourt). Purified DNA was quantified using UV absorbance at 260 nm. One microgram of the resulting DNA from each sample was used as template in the Affymetrix DMET Plus GeneChip assay. Data analysis was performed using Affymetrix DMET Console software.

To view your clinical report, click here. The clinical report contains the lab generated testing information and does not include all the content in the research study report.

[Risk interpretation based on Coriell’s CYP2C19/PPI Response Genotype Translation Version 1 (June 2013)]

Coriell Institute for Medical Research
Coriell Genotyping and Microarray Center
403 Haddon Avenue Camden, NJ 08103
Phone: 856-966-7377 Fax: 856-964-0254  www.coriell.org
CYP2C19 GENE TEST FOR PROTON PUMP INHIBITOR RESPONSE
Name: STEVE CPMC
Date of Birth:
Coriell ID: DEMOSTEVE
Lab Accessioning Number: DEMOSTEVE
Ordering Physician:
Sample Type: Saliva
Gender: Male
Date Collected:
Date Received:
Date of Report: 07/05/2013
NAME OF GENE: CYP2C19 LOCATION OF GENE: 10q24
Variants tested RESULT Reference Genotype
rs4244285 (CYP2C19*2) GG G G
rs4986893 (CYP2C19*3) GG G G
rs28399504 (CYP2C19*4) AA A A
rs56337013 (CYP2C19*5) CC C C
rs72558184 (CYP2C19*6) GG G G
rs72558186 (CYP2C19*7) TT T T
rs41291556 (CYP2C19*8) TT T T
rs17884712 (CYP2C19*9) GG G G
rs6413438 (CYP2C19*10) CC C C
rs12248560 (CYP2C19*17) CT C C
^ When the Result for all CYP2C19 variants tested are the same as the reference, the Combined Result is called CYP2C19 *1/*1. In some cases, due to technical limitations, your Combined Result may not be able to be determined. It may still be possible to provide an interpretation for such a result based on possible genetic outcomes (for example in rare combinations of non-reference results at more than one variant, or the presence of a “result not available” at one or more variants).
Risk interpretation based on Coriell’s CYP2C19/PPI Response Genotype Translation Version 1 (June 2013).

Interpretation

There is insufficient published clinical data to interpret the impact of this individual’s genetic combination on response to PPIs.

Test Limitations

DNA-based testing is highly accurate, however there are many sources of potential error including: mis-identification of samples, rare technical errors, trace contamination of PCR reactions, and rare genetic variants that interfere with analysis. There may be other variants in the CYP2C19 gene that are not included in this test, that influence the response to PPIs. This test or one or more of its components was developed and its performance characteristics determined by the Coriell Institute for Medical Research. It has not been approved by the Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary. The Coriell Institute is regulated under the Clinical Laboratory Improvement Amendments (CLIA) of 1988 as qualified to perform high-complexity testing.

Test Methodology

Saliva samples were collected using Oragene DNA Collection Kits (DNA Genotek) and DNA was extracted manually according to the manufacturer’s instructions or automatically using a DNAdvance Kit (Agencourt). Purified DNA was quantified using UV absorbance at 260 nm. One microgram of the resulting DNA from each sample was used as template in the Affymetrix DMET Plus GeneChip assay. Data analysis was performed using Affymetrix DMET Console software.

electronically signed by
Marie Hoover, PhD, Laboratory Director


References

  1. Baldwin R M, et al. Br J Clin Pharmacol 2008;65(5):767-774.
  2. Furuta T, et al. Clin Pharmacol Ther 1999;65(5):552-561.
  3. Furuta T, et al. Clin Pharmacol Ther 2002;72(4):453-460.
  4. Gawronska-Szklarz B, et al. Eur J Clin Pharmacol 2010;66(7):681-687.
  5. Horai Y, et al. Aliment Pharmacol Ther 2001;15(6):793-803.
  6. Hu YM, et al. World J Gastroenterol 2006;12(29):4750-4753.
  7. Hunfeld NG, et al. Aliment Pharmacol Ther 2010;31(1):150-159.
  8. Kawamura M, et al. Aliment Pharmacol Ther 2003;17(7):965-973.
  9. Kurzawski M, et al. Eur J Clin Pharmacol 2006;62(10):877-880.
  10. Rocha A, et al. Eur J Clin Pharmacol 2008;64(9):901-906.
  11. Roh HK, et al. Basic Clin Pharmacol Toxicol 2004;95(3):112-119.
  12. Sagar M, et al. Gastroenterology 2000;119(3):670-676.
  13. Shirai N, et al. Aliment Pharmacol Ther 2001;15(12):1929-1937.
  14. Sim SC, et al. Clin Pharmacol Ther 2006;79(1):103-113.
  15. Sugimoto M, et al. J Gastroenterol Hepatol 2009;24(11):1725-1732.
  16. Take S, et al. Am J Gastroenterol 2003;98(11):2403-2408.
  17. Wang H, et al. Drug Metab Dispos 2011;39(5):830-837.
  18. Zendehdel N, et al. Arch Iran Med 2010;13(5):406-412.