by Melissa Smith, PharmD, CPH
An example can be illustrated in the CYP2D6 enzyme where its phenotypic label is identified as a poor CYP2D6 metabolizer. If a patient were prescribed Paroxetine (Paxil) as an initial therapy for their depression and they had poor metabolizing function at the CYP2D6 enzyme they could potentially have a higher plasma concentration of Paroxetine in the blood increasing the probability of side effects. Having this information prior to prescribing can help prevent the occurrence of side effects or adverse events.
Pharmacogenetic (PGx) testing helps doctors pinpoint how well the body uses medications, allowing them to personalize choices on drugs. Precision medicine is the direction that healthcare practitioners are taking when evaluating their patient cases. Pharmacogenetic (PGx) testing can play a pivotal role in the diagnostic element of precision medicine treatment plans.
There are currently more than 350 therapeutic agents recognized by the Food and Drug Administration that have package insert information that pertains to pharmacogenomic biomarkers. These pharmacogenomic biomarkers present actionable genetic information that can be used by healthcare practitioners to help personalize the selection of a drug for their patients.[5] If this information is not used when making decisions about medication selection for patients’ liability implications can arise for clinicians. A study published in 2015 entitled “Pharmacogenomics in the clinic” estimated that of the 1200 commonly used FDA medications, which accounted for roughly four billion prescriptions, 18% (720M) where affected by actionable pharmacogenetic variables.[6]
Healthcare practitioners and patients may be curious about the process of their first pharmacogenetic (PGx) test. ClarityX provides a seamless in-home testing experience. Simply visit our testing options page, select the test option from the menu and complete the checkout process. Once the kit is received follow the package instructions, perform a simple cheek swab, then mail the sample back using the prepaid envelope. The sample is then sent to the lab for processing and providers receive the results in 7-14 days on average. One of the most important facts about pharmacogenetic (PGx) testing is the results can be reevaluated for future medication changes as this test does not have to be repeated for those specific genes tested. In other words, pharmacogenetic (PGx) testing can provide a lifetime of knowledgeable decisions about medication selection for health care teams.
Precision medicine is the way of the future for health care where pharmacogenomics seamlessly can be implemented. The more healthcare practitioners become educated about the benefits of Pharmacogenomics (PGx) testing, the inevitable implementation into their own practice is more achievable. Patients have the right to have the most informed decisions made about their medications. This can prevent so many complications that taking medications can usually produce. Imagine a world where a patient visits a health care provider with a medication complaint, and pharmacogenetics (PGx) testing is routine. In this scenario, the doctor would order pharmacogenetics testing with other lab tests, and the resulting report could provide a road map for treatment based on the patient’s genetics. Pharmacogenetics testing is beginning to become a standard of care by many medical practices and will continue until its universally used.
[1] PHARMGKB, 202. https://www.pharmgkb.org/
[2] https://www.mayoclinic.org/healthy-lifestyle/consumer-health/in-depth/personalized-medicine/art-20044300
[3] https://www.pharmgkb.org/whatIsPharmacogenomics
[4] https://www.pharmgkb.org/page/glossary#pharmacogenomics
[5] https://www.mayoclinic.org/healthy-lifestyle/consumer-health/in-depth/personalized-medicine/art-20044300
[6] Relling MV, Evans WE. Pharmacogenomics in the clinic. Nature. 2015 Oct 15;526(7573):343-50. doi: 10.1038/nature15817. PMID: 26469045; PMCID: PMC4711261.
[7] Patel, Jai N., et al. “Value of Supportive Care Pharmacogenomics in Oncology Practice.” The Oncologist, vol. 23, no. 8, 2018, pp. 956–964., https://doi.org/10.1634/theoncologist.2017-0599.
[8] Peiró, Ana M. “Pharmacogenetics in Pain Treatment.” Pharmacogenetics, 2018, pp. 247–273., https://doi.org/10.1016/bs.apha.2018.04.004.
[9] Hicks, JK, et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline forcyp2d6andcyp2c19Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.” Clinical Pharmacology & Therapeutics, vol. 98, no. 2, 2015, pp. 127–134., https://doi.org/10.1002/cpt.147.
[10] https://www.pharmgkb.org/labelAnnotation/PA166104777
[11] David, Victoria, et al. “An Analysis of Pharmacogenomic-Guided Pathways and Their Effect on Medication Changes and Hospital Admissions: A Systematic Review and Meta-Analysis.” Frontiers in Genetics, vol. 12, 2021, https://doi.org/10.3389/fgene.2021.698148.
[12] Watanabe, Jonathan H., et al. “Cost of Prescription Drug–Related Morbidity and Mortality.” Annals of Pharmacotherapy, vol. 52, no. 9, 2018, pp. 829–837., https://doi.org/10.1177/1060028018765159.
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