PgX (Pharmacogenomic) Test

The PgX (Pharmacogenomic) Test offered by TruDiagnostic is designed to personalize medication therapy based on an individual's unique genetic makeup. Pharmacogenomics examines how genetic variations influence an individual's response to drugs, enabling healthcare providers to prescribe medications more effectively and minimize adverse drug reactions. 

This test analyzes specific genes involved in drug metabolism, drug transport, and drug targets to provide insights into how an individual's body processes medications. By identifying genetic variants that may impact drug processing, efficacy or toxicity, the PgX test empowers healthcare providers to make informed decisions about medication selection, dosage adjustments, and treatment plans tailored to each patient's genetic profile.  [8.]

The PgX test assesses variations in genes called SNPs.  SNP stands for Single Nucleotide Polymorphism. It is a common type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered at a specific position within the genome. SNPs are the most frequent type of genetic variation among individuals and can occur throughout the genome. They can influence various traits, including susceptibility to diseases, response to medications, and other phenotypic characteristics. 

SNPs are often used as genetic markers in association studies to identify links between specific genetic variants and particular traits or diseases.

Many of the included SNPs encode enzymes responsible for metabolizing several commonly prescribed medications.  Additionally, this test evaluates genes involved in drug transporters and receptors, such as ABCB1 and VKORC1, to predict how a patient may respond to specific medications. 

By understanding how genetic factors influence drug metabolism and response, healthcare providers can optimize medication regimens to improve treatment outcomes, reduce the risk of adverse reactions, and enhance patient safety. This personalized approach to medication management holds promise for enhancing therapeutic efficacy, minimizing side effects, and improving patient adherence, ultimately leading to better clinical outcomes and quality of life.

Which SNPs are tested in the Pharmacogenetic Test by Trudiagnostic?

VKORC1

G6PD

F13A1

IL6

OPRM1

OPRD1

HTR2A

ATM

CYP2B6

BDNF

CYP2D6

4q25

CYP2C9

CYP2C19

ADH1B

FKBP5

GRIK1

HLA-A

CACNA1C

ANKK1

ADRA2A

12q15

CYP1A2

COMT

ALDH2

APOE

ITGB3

GRIK4

CYP4F2

IFNL3

HLA-B

CYP3A4

MTHFR

TPMT

OPRK1

HTR2C

GRIN2B

CYP3A5

NUDT15

SLCO1B1

What is the Clinical Benefit of the Pharmacogenetic Test by TruDiagnostic? 

Assessing specific gene single nucleotide polymorphisms (SNPs) for pharmacogenetic testing holds immense clinical utility in tailoring medication regimens to individual patients. For instance, variations in the VKORC1 gene have been associated with altered responses to anticoagulant medications like warfarin. Understanding a patient's VKORC1 genotype can help predict their sensitivity to warfarin and guide personalized dosing strategies to achieve therapeutic anticoagulation while minimizing the risk of bleeding complications.  [5.] 

Similarly, SNPs in genes such as CYP2D6 and CYP2C19 can significantly impact the metabolism of various medications, including antidepressants and antipsychotics.  [1.] 

Pharmacogenetic testing for these genes allows clinicians to identify patients who may be poor or ultrarapid metabolizers, enabling them to adjust medication dosages accordingly to optimize therapeutic efficacy and reduce the risk of adverse drug reactions.  [10.]

Furthermore, SNPs in genes like TPMT and CYP3A5 play crucial roles in the metabolism and clearance of medications such as thiopurines and tacrolimus, respectively. Individuals with specific variants in these genes may be at an increased risk of drug toxicity or therapeutic failure if standard dosages are prescribed. 

By incorporating information on these gene variants into pharmacogenetic testing, healthcare providers can personalize medication regimens, ensuring safer and more effective treatment outcomes for their patients.  [11.]   

Overall, the comprehensive assessment of specific gene SNPs for pharmacogenetic testing empowers clinicians to make evidence-based decisions regarding medication selection, dosing, and monitoring, ultimately improving patient care and therapeutic outcomes. [12.]

How Can Clinicians Implement the Information in the PgX Pharmacogenomic Test by TruDiagnostic?

Results from the PgX Pharmacogenetic Test by Trudiagnostic are presented inside a comprehensive result report, with the following sections:

Genetic Summary: a summary of the specific SNPs tested and the individual’s genetic results

Current Regimen Risk Detail (by severity): an assessment of the individual’s current medications and any risks apropos of the medication list supplied for the following risk vectors (Pharmacogenetic risks; Drug-to-drug interactions; Contraindications; AGS Beers criteria; Lifestyle factors; Anticholinergic burden; and FDA boxed warnings)

Medications Summary: a list of common medications by body system, graded as Likely Safe with Standard Precautions; Use Caution; or Change Recommended based on the individual’s pharmacogenetics

Medication Report Details (by therapeutic class): an in-depth report on the individual’s likely response to individual medications based on her or his pharmacogenetic report

References

Patient Information Card: A handy 1-page card outlining the individual’s pharmacogenetic profile according to their SNP status.

This allows for easy interpretation and implementation of the information provided inside this pharmacogenetic report.

Who Can Benefit from the PgX Pharmacogenetic Test by TruDiagnostic?

The PgX (Pharmacogenetics) test by TruDiagnostic can benefit various groups of people, including:

Patients with complex medical conditions: Individuals with chronic diseases or conditions such as cardiovascular disorders, psychiatric disorders, cancer, or chronic pain may benefit from pharmacogenetic testing to optimize medication selection and dosing based on their genetic profile.  [4., 6., 10.] 

Those experiencing adverse drug reactions: Patients who have experienced adverse reactions or lack of efficacy with certain medications may benefit from PgX testing to identify genetic factors contributing to their response and guide safer and more effective treatment options. [3., 12.]

Individuals on multiple medications: Polypharmacy is common among older adults and those with complex medical conditions. Pharmacogenetic testing can assist in identifying potential drug-drug interactions and optimizing medication regimens to minimize adverse effects and improve therapeutic outcomes.  [9., 12.]

Patients undergoing surgery or anesthesia: Genetic variations in drug metabolism enzymes, such as CYP2D6 and CYP2C19, can influence individual responses to anesthesia and perioperative medications. Pharmacogenetic testing can help tailor anesthesia and analgesic strategies to improve perioperative care and outcomes.  [2.]

Individuals considering psychiatric medication: Psychiatric medications often have narrow therapeutic windows and varying response rates due to genetic factors. Pharmacogenetic testing can provide valuable insights into medication selection and dosing for individuals with mental health conditions, potentially improving treatment outcomes and reducing the risk of adverse events.  [1., 7., 12.]

By identifying genetic variants associated with drug metabolism, transport, and pharmacodynamics, PgX testing can personalize medication management and enhance patient care across diverse clinical scenarios.

Collection and Shipping Instructions:

Key Details:

Keep the kit box - you will use it to ship your sample back to the lab. 

You must avoid eating, drinking, or smoking for 30 minutes before sample collection.

Ship your sample as soon as possible after collection.

If you cannot ship the same day you collect, place your sample in the refrigerator until you are ready to ship it. 

Preparation & Timing:

Refrain from wearing lip balm and lipstick.

Avoid eating, smoking, chewing gum, and drinking for 30 minutes before collection.

Collection Instructions:

Complete online test registration before sample collection.  Click here to register your test.  Click here for more instructions on how to register your test.

Wash hands and write date of birth on the vial.

Place the vial upright on a flat surface.

Open the vial.  DO NOT touch or discard the liquid.

Unwrap the swab.  DO NOT touch the cotton end that will go in your mouth.

Using a lot of pressure, rub swab against the inside of both cheeks for 60 seconds each, rotating the tip as you swab.  .

Pick up the vial.  Slowly insert and twist the swab into the vial, using a corkscrew motion.

Move the swab rapidly up and down 10-15 times inside the tube, keeping the swab in the liquid the entire time.

Using a corkscrew motion, slowly twist the swab to remove it from the vial.  Seal vial tightly. Place the vial in the provided ziplock bag and packaging tube.  Discard the swab.  

Requisition & Payment:

The kit is prepaid; no additional payment is required.

Online test registration is mandatory.  click here to register.

For more information on registering your test kit online, click here.

Shipping:

Ensure online test registration is completed.

To prepare your sample for shipping,

Place the specimen vial into the biohazard bag.

Seal the biohazard bag. 

Place the extra barcode label into the kit box.

Place the biohazard bag into the kit box.

Peel the tape strip from the top flap of the box to seal it. 

Place the return address label on top of the box.

Place the "Exempt Human Specimen" label on the bottom left of the box. 

DO NOT cover the postage or return address labels. 

Make a note of the tracking number on the label so that you can track your sample back to the lab.

Results:

Results are typically released to the provider 2-3 weeks after sample receipt at the lab, though processing time cannot be guaranteed.

References

[1.] Austin-Zimmerman I, Wronska M, Wang B, Irizar H, Thygesen JH, Bhat A, Denaxas S, Fatemifar G, Finan C, Harju-Seppänen J, Giannakopoulou O, Kuchenbaecker K, Zartaloudi E, McQuillin A, Bramon E. The Influence of CYP2D6 and CYP2C19 Genetic Variation on Diabetes Mellitus Risk in People Taking Antidepressants and Antipsychotics. Genes (Basel). 2021 Nov 3;12(11):1758. doi: 10.3390/genes12111758. PMID: 34828364; PMCID: PMC8620997. 

[2.] Behrooz A. Pharmacogenetics and anaesthetic drugs: Implications for perioperative practice. Ann Med Surg (Lond). 2015 Nov 10;4(4):470-4. doi: 10.1016/j.amsu.2015.11.001. PMID: 26779337; PMCID: PMC4685230. 

[3.] Caudle KE, Gammal RS, Whirl-Carrillo M, Hoffman JM, Relling MV, Klein TE. Evidence and resources to implement pharmacogenetic knowledge for precision medicine. Am J Health Syst Pharm. 2016 Dec 1;73(23):1977-1985. doi: 10.2146/ajhp150977. PMID: 27864205; PMCID: PMC5117674. 

[4.] Crews KR, Hicks JK, Pui CH, Relling MV, Evans WE. Pharmacogenomics and individualized medicine: translating science into practice. Clin Pharmacol Ther. 2012 Oct;92(4):467-75. doi: 10.1038/clpt.2012.120. Epub 2012 Sep 5. PMID: 22948889; PMCID: PMC3589526. 

[5.] Dean L. Warfarin Therapy and VKORC1 and CYP Genotype. 2012 Mar 8 [Updated 2018 Jun 11]. In: Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84174/ 

[6.] Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, Hunkler RJ, Klein TE, Evans WE, Relling MV. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol. 2015;55:89-106. doi: 10.1146/annurev-pharmtox-010814-124835. Epub 2014 Oct 2. PMID: 25292429; PMCID: PMC4607278.

[7.] Hicks JK, Bishop JR, Sangkuhl K, Müller DJ, Ji Y, Leckband SG, Leeder JS, Graham RL, Chiulli DL, LLerena A, Skaar TC, Scott SA, Stingl JC, Klein TE, Caudle KE, Gaedigk A; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clin Pharmacol Ther. 2015 Aug;98(2):127-34. doi: 10.1002/cpt.147. Epub 2015 Jun 29. PMID: 25974703; PMCID: PMC4512908. 

[8.] Hippman C, Nislow C. Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges. J Pers Med. 2019 Aug 7;9(3):40. doi: 10.3390/jpm9030040. PMID: 31394823; PMCID: PMC6789586.

[9.] Keogh M, Fragala MS, Peter AP, Lorenz RA, Goldberg SE, Shaman JA. Early Insights From a Pharmacogenomic-Enriched Comprehensive Medication Management Program Implementation in an Adult Employee Population. J Occup Environ Med. 2022 Dec 1;64(12):e818-e822. doi: 10.1097/JOM.0000000000002705. Epub 2022 Sep 22. PMID: 36155954; PMCID: PMC9722373. 

[10.] Mrazek DA. Psychiatric pharmacogenomic testing in clinical practice. Dialogues Clin Neurosci. 2010;12(1):69-76. doi: 10.31887/DCNS.2010.12.1/dmrazek. PMID: 20373668; PMCID: PMC3181940. 

[11.] Oates JT, Lopez D. Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application. Int J Biomed Investig. 2018;1(2):111. doi: 10.31531/2581-4745.1000111. Epub 2018 May 27. PMID: 32467882; PMCID: PMC7255432.

[12.] Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther. 2011 Mar;89(3):464-7. doi: 10.1038/clpt.2010.279. Epub 2011 Jan 26. PMID: 21270786; PMCID: PMC3098762.