Thousands of people die every year in different parts of the world due to the misuse of drugs. However, for several decades, we have learned how drugs interact with our genes (1). Pharmacogenetics is the science in charge of analyzing and applying the knowledge in DNA related to drugs.
How can we use this valuable information?
One of the first drugs to be studied was Warfarin, a widely used anticoagulant. It is a clear example of the usefulness of pharmacogenetics: people who require this drug are recommended to undergo a genetic test before the use of the drug, to understand, based on the test results, the effect that the drug may have and, based on this, modulate the dose or other parameters (2).
Although Warfarin was one of the pioneering drugs, research continued with other drugs such as Clopidogrel, used in cardiology (3) or antidepressants (4). Gradually, more and more drugs are added to the pharmacogenetic tests, and today more than three hundred are known, and the list is growing every year (5, 6).
In addition to the obvious health benefits for patients, pharmacogenetics also has an impact on government coffers. Last year, the US government spent more than $350 billion on prescription drugs (7, 8). Unfortunately, a percentage of the expenditure will have been in vain, as some medicines result in low efficacy or even mortality. In large part, this is because the drug interaction is not the same for everyone; in other words, this is due to genetics, which by definition is unique to each individual.
A great deal of research has already been carried out and proven that the population carries pharmacogenetic utility genes (9, 10). Precisely in this sense, both in the European Union and new platforms have begun to take action in this discipline (11, 12).
Examples here and in the world
Undoubtedly, clinical services worldwide see the need to change protocols (13) concerning pharmacology and genes. There are already countries such as the Netherlands (14) that have been doing so for some years. There, citizens carry their genetic results on their health care based on drugs in which the pharmacogenetic potential is known. When they go to the pharmacy, the dosage of specific medications is modulated based on the genetic analysis. Here in Spain, we also have examples such as the Extremadura strategy (15), a project co-financed by the European Union that will genetically analyze the population to modulate the pharmacological pattern and thus increase the quality of life and life expectancy of the citizens of Extremadura.
Know your predisposition
Your genetic predisposition to drugs can help you stay alive and healthy, and today it is already at your fingertips. Bringing this information to the attention of your healthcare professional can make all the difference. At 24Genetics, we conduct a pharmacogenetics report divided into four different areas with a wide range of drugs. We talk in terms of efficacy, such as dosage and toxicity. Visit our store page and find out more about this test Pharma
- Magazine and News. 2021. España: Medicina de Precisión y patentes. https://biotechmagazineandnews.com/espana-medicina-de-precision-y-patentes/
- Klein, T.E., et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med. 2009 Feb 19;360(8):753-64. doi: 10.1056/NEJMoa0809329. Erratum in: N Engl J Med. 2009 Oct 15;361(16):1613. Dosage error in article text. PMID: 19228618; PMCID: PMC2722908.
- Mega, J., et al. Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with Clopidogrel and prasugrel in the TRITON–TIMI 38 trial: a pharmacogenetic analysis, The Lancet. 2010. 1312-1319, ISSN 0140-6736, https://doi.org/10.1016/S0140-6736(10)61273-1.
- Kato, M., and Serretti, A. Review and meta-analysis of antidepressant pharmacogenetic findings in major depressive disorder. Mol Psychiatry 15, 473–500 (2010). https://doi.org/10.1038/mp.2008.116
- Clinical Pharmacogenetics implementation consortium. 2021. https://cpicpgx.org/
- Food and Drug Administration. United States. 2021. https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations
- Statista. 2021. https://www.statista.com/statistics/184914/prescription-drug-expenditures-in-the-us-since-1960/
- Verbelen, M., et al. Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet? Pharmacogenomics J. 2017 Oct;17(5):395-402. doi: 10.1038/tpj.2017.21. Epub 2017 Jun 13. PMID: 28607506; PMCID: PMC5637230.
- Mizzi C., et al. (2016) A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS ONE 11(9): e0162866. doi:10.1371/journal. pone.0162866
- Van Driest SL, et al. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing. Clin Pharmacol Ther. 2014 Apr;95(4):423-31. doi: 10.1038/clpt.2013.229. Epub 2013 Nov 19. PMID: 24253661; PMCID: PMC3961508.
- Ji Y., et al. Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade. J Mol Diagn. 2016 May;18(3):438-445. doi: 10.1016/j.jmoldx.01.003. Epub 2016 Mar 3. PMID: 26947514; PMCID: PMC4851731.
- Ubiquitous Pharmacogenomics. European Union. 2021. https://upgx.eu/study-overview-spanish-version/
- European Medicines Agency. 2021. https://www.ema.europa.eu/en/human-regulatory/research-development/scientific-guidelines/multidisciplinary/multidisciplinary-pharmacogenomics
- Bank, PCD, et al. Estimated nationwide impact of implementing a preemptive pharmacogenetic panel approach to guide drug prescribing in primary care in The Netherlands. BMC Med 17, 110 (2019). https://doi.org/10.1186/s12916-019-1342-5
- Proyecto Medea. 2021. https://www.proyectomedea.es/?page_id=843&lang=en
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