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Pharmacogenetics is a branch of science studying how genes affect pharmacokinetics and pharmacodynamics. Metabolism of pharmaceuticals occurs through enzymes, and genes regulate the expression of enzymes. Currently over 20 genes with clinically significant effect on drug metabolism have been identified. The most important of these are CYP2D6 and CYP2C19 from the CYP enzyme family, and they are associated with significant genetic variation between individuals. According to studies, almost everyone has one or more genetic variants that affect their drug metabolism. ³
The standard dosing guidelines of medicines are based on drug trials where majority of patients get the desired therapeutical effect. For slower and faster metabolisers, however, the concentration of the medicine can be above or below the therapeutic window. This can lead to not receiving the therapeutic effect (concentration too low) or an increased risk of adverse drug reactions (concentration too high).
Pharmacogenetic testing provides doctors support in choosing the best possible medication for their patient, whether they are normal, slower or faster metabolisers. Especially when prescribing antidepressants or antipsychotics, the test results can offer much-needed guidance in choosing from the numerous medicines available nowadays. Pharmacogenetically suitable choice of medication can lower the risk of adverse drug effects and increase the chance of a drug response. Both the doctor and the patient can feel more confident in the choice of medication, which can also increase treatment compliance and adherence.
In addition to psychiatrics, pharmacogenetic testing has been shown to be beneficial in treating polypharmacy patients as well as in cardiology and neurology. Several common medicines used in the treatment of heart attack, stroke, venous thromboembolism and other cardiovascular conditions, such as clopidogrel, warfarin and several statins, are affected by pharmacogenetics.
Cost is not a barrier to pharmacogenetic testing anymore. The effectiveness and cost-effectiveness of pharmacogenetic testing has been studied for various medicines and medical conditions. In a review of studies on the cost-effectiveness of pharmacogenetic testing, 71 % of the studies deemed pharmacogenetic testing cost-effective or cost-saving. This was especially true for clopidogrel (98 %) and antidepressants (82 %). ¹ In the treatment of mood and anxiety disorders, pharmacogenetic testing was estimated to save 2000 € per patient during a 6-month follow-up period due to decreased number of ER visits and hospitalisations. ⁹
Adverse drug reactions (ADRs) are a significant cause of ER visits and therefore also a significant source of costs and a burden on healthcare resources. For example, in Finland in the Helsinki metropolitan area three times more patients with life-threatening ADRs are treated in the ER than patients with severe injuries from traffic accidents. ⁴ ⁵ Pre-emptive pharmacogenetic testing can help reduce the incidence of ADRs. A large European study showed a 30 % reduction in clinically relevant ADRs with pharmacogenetically guided prescribing. ¹¹
The risk of ADRs increases with polypharmacy. In a study of patients over the age of 65 admitted to the ER, problems with medication were estimated to likely or certainly be the cause of the ER visit in 16-29 % of cases. ⁶ In another study pharmacogenetic testing was shown to decrease ER visits by 42 % and re-hospitalisations by 52 % in patients over the age of 50 after a hospital stay. The decrease in the number of ER visits and hospital stays was estimated to save 4000 € per patient already in the 60-day follow-up period. ⁷
Pharmacogenetically guided treatment has been shown to lead to better treatment outcomes than treatment as usual especially in psychiatrics, but also in geriatric polypharmacy, cardiology and neurology. In a meta-analysis patients witch depression were shown to have 15-74 % higher chance of reaching remission when the treating doctor had the results of a pharmacogenetic test at their disposal compared to when they didn’t. ¹⁰
Clopidogrel is an antiplatelet medicine commonly used in the prevention of blood clots. However, it has been shown to be ineffective in patients with slow CYP2C19 metabolism, who make up approx 30 % of the general European population ¹² In a meta-analysis pharmacogenetic testing was shown to decrease the risk of MACE (major adverse cardiovascular event) by 41 %, the risk of bleeding by 25 %, and the risk of a heart attack by 47 % in patients who have suffered a heart attack, a stroke, or had a PCI (percutaneous coronary intervention). ⁸
The Abomics pharmacogenetic interpretation report can help doctors choose the right medicine and the right dose for the right patient. The amount of research data on pharmacogenetics is vast and growing continuously. It can be challenging for doctors to keep up with all the latest pharmacogenetic research. The Abomics pharmacogenetic report collects all the pharmacogenetic knowledge relevant to the clinician and presents it as clear recommendations for usage and dosing of medicines. This allows the clinician to make pharmacogenetically informed medication decisions without the need to use their time researching all the different pharmacogenetic variants and how they affect the metabolism of each medicine.
The medication recommendations are compiled from multiple sources, such as CPIC (Clinical Pharmacogenetics Implementation Consortium), DPWG (Dutch Pharmacogenetics Working Group), FDA (U.S. Food and Drug Administration), EMA (European Medicines Agency), and peer-reviewed scientific literature, and curated by our board of experts in pharmacogenetics to ensure maximum reliability, accuracy and coverage. Medical professionals approve the reports, and they can be accessed online via our secure cloud-based service, and they are regularly updated with emerging pharmacogenetic knowledge.
Abomics also produces several medical databases to make the daily work of healthcare professionals easier and faster. These include databases such as drug indications, drug interactions, drug-laboratory effects and gene-drug effects. The databases make prescribing medicines faster and easier. In Finland alone these databases spare doctors the effort of writing millions of words every year. The decreased need in typing out words also decreases the amount of typing errors and other irregularities, and the data can also be used for more accurate and reliable statistics.
Contact us today to discuss how you could implement pharmacogenetic testing at your institution. Help your doctors make more informed decisions when prescribing medications, leading to better treatment outcomes and cost-efficiency.
[1] Morris, S.A., Alsaidi, A.T., Verbyla, A., Cruz, A., Macfarlane, C., Bauer, J. and Patel, J.N. (2022), Cost Effectiveness of Pharmacogenetic Testing for Drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines: A Systematic Review. Clin Pharmacol Ther. https://doi.org/10.1002/cpt.2754
[2] Lähteenmäki, J. et al. (2023) Pharmacogenetics of warfarin and healthcare costs – Real-world data analysis. Pharmacoepidemiol Drug Saf. 32(3). 382- 386. doi:10.1002/pds.5585
[3] Ji, Y. et al. (2016) 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. The Journal of molecular Diagnostics. 18(3), 438-445., 95(4), 423-432. https://doi.org/10.1016/j.jmoldx.2016.01.003
[4] Kauppila, M. et al (2021) Incidence, preventability, and causality of adverse drug reactions at a university hospital emergency department. European Journal of Clinical Pharmacology. 77, 643-650. https://doi.org/10.1007/s00228-020-03043-3
[5] Official Statistics of Finland (OSF): Statistics on road traffic accidents [e-publication]. ISSN=2342-3846. 2019. Helsinki: Statistics Finland [referred: 9.11.2022]. Access method: http://www.stat.fi/til/ton/2019/ton_2019_2021-01-19_tie_001_en.html
[6] Schepel, L. et al. (2019) Medication Reconciliation and Review for Older Emergency Patients Requires Improvement in Finland. International Journal of Risk & Safety in Medicine. 30(1), 19-31. https://doi.org/10.3233/JRS-180030
[7] lliott, L. et al. (2017) Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial. PLOS ONE. 12(2), e017905. https://doi.org/10.1371/journal.pone.0170905
[8] Kheiri, B. et al. (2020) Genotype-Guided Strategy for P2Y12 Inhibitors in Coronary Artery Disease: A Meta-Analysis of Randomized Clinical Trials. J Am Coll Cardiol Intv. 13 (5) 659–661. https://doi.org/10.1016/j.jcin.2019.11.019
[9] Perlis, R. et al. (2018) Pharmacogenetic testing among patients with mood and anxiety disorders is associated with decreased utilization and cost: A propensity-score matched study. Depression and Anxiety. 35(10), 946-952. https://doi.org/10.1002/da.22742
[10] Brown, L. C. et al. (2022). Pharmacogenomic Testing and Depressive Symptom Remission: A Systematic Review and Meta‐Analysis of Prospective, Controlled Clinical Trials. Clinical Pharmacology & Therapeutics. 112, 1303-1317. https://doi.org/10.1002/cpt.2748
[11] Swen, J. (2023) A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. The Lancet. 401(10374), 347-356. https://doi.org/10.1016/S0140-6736(22)01841-4
[12] Frequencies of CYP2C19 phenotypes in biogeographical groups, CYP2C19 frequency table, The Clinical Pharmacogenetics Implementation Consortium (CPIC®) https://files.cpicpgx.org/data/report/current/frequency/CYP2C19_frequency_table.xlsx.
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