PHARMACOGENE POLYMORPHISM REPORT*


This report describes if a person has certain alleles that can affect how quickly a drug is metabolized (broken down) in the body, and may be associated with higher risk of nonresponse or over response to medications, adverse drug reactions and drug toxicities. 

Numerous factors can affect response to a medicine, including gender, age, and diet. In spite of that, genetics is also an important element in drug response. 

Begin sample report.
CYP2C19 gene

The CYP2C19 gene is a member of the cytochrome P450 gene family, it provides instructions to make the enzyme. The cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19) enzyme plays a role in processing or metabolizing a large number of commonly prescribed drugs and drug classes such as antidepressants, benzodiazepines, proton pump inhibitors (PPIs), and others. CYP2C19 metabolic activity level can be classified as ultrarapid , Normal, Intermediate, or poor.


Metabolic activity

Allele* / Allele*

CYP2C19*1 allele (wild type) is associated with functional CYP2C19-mediated metabolism. CYP2C19*2 is the most common CYP2C19 loss-of-function allele. One variant allele that encodes reduced enzyme function *3. CYP2C19*17 allele creates an increased CYP2C19 expression and activity. 

*Allele frequencies are based on published literature reports. In general, there are no population studies that test for all known variant alleles. This report presents well-studied alleles, where the margin of error is likely low. It is difficult to group populations with certainty, because some populations are often admixed, or at the least, a combination of different ethnicities. Therefore, the margin of error is increased when ddifferent subpopulations are grouped together.

End sample report.

What's included in Your
Pharmacogene Polymorphism Report*

CYP2C19 gene*
cytochrome P450 (CYP450) 

Importance: The CYP2C19 gene codes for an  enzyme that plays a role in the
processing or metabolizing of at least 10 percent of prescription drugs

CYP2D6 gene*
cytochrome P450 (CYP450) 

Importance:  High inter individual  variations (polymorphism) of the CYP2D6 gene
have been reported in the scientific literature leading to variations in the
enzyme expression. The CYP2D6 enzyme is involved in the
metabolism or processing of up to 25 percent of
prescription drugs 

CYP2C9 gene*
cytochrome P450 (CYP450) 

Importance: CYP2C9 gene polymorphisms affect metabolic activity of the
enzyme. CYP2C9 is responsible for the metabolic clearance
of up to 15 to 20 percent of all drugs
undergoing Phase I metabolism

CYP3A5 gene*
cytochrome P450 (CYP450) 

Importance:  involved in the metabolism of steroid hormones, vitamins and
certain prescription drugs  CYP3A5 may be the most important genetic
contributor to interindividual and interracial differences in
CYP3A mediated drug metabolism..


IFNL3 gene*
This gene encodes a cytokine

Importance:Association with Hepatitis C Virus Treatment Response



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References



NCBI https://www.ncbi.nlm.nih.gov/projects/genome/guide/
human/index.shtml

The 1000 Genomes Project www.internationalgenome.org

U.S. Food and Drug Administration (FDA) biomarker list

Clinical Pharmacogenetic Implementation Consortium (CPIC) 

https://www.ncbi.nlm.nih.gov/clinvar/

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The information in this Report is for informational and educational purposes only. It is not intended for direct diagnostic use or medical decision-making. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.

*This product provides only a preliminary analytical result. An independent, clinically validated test must be used in connection with the medical trait in question.Limitations: This product analyzes certain genetic variants associated with  how quickly a medication is metabolized in the body. This product does not query all possible alleles associated with drug metabolism. Results may change as research advances and permit us to better understand what these genetic variations mean for health. Numerous factors can affect response to a medicine, including gender, age, and diet. Not a diagnostic product. Contains data from dbSNP, ClinVar, 1000 genomes project, COSMIC, dbGaP, dbVAR, EGA and many other sources.

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