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When the doctor makes the medication decision with the aid of the pharmacogenetic test report, patients with depression achieve remission 15-74 % more likely than when the doctor does not utilise the test results. This is shown by a meta-analysis covering 10 RCTs with 2,614 participants, and 3 open label studies with 2,153 participants (RR 1.41, 95 % CI = 1.15–1.74, P = 0.001). 6
Psychotropic medications include many drugs that are significantly affected by pharmacogeneticse2, 9. In Finland 60 % of antidepressant consumption consists of medicines that pharmacogenetics affects with clinical significance 1, 2. Escitalopram is the most commonly used antidepressant in Finland, and it is metabolised through e.g., CYP2C19 2, 3. About 60 % of the Finnish population, however, are faster or slower CYP2C19 metabolisers 4. This means that in over half of the population escitalopram is metabolised too fast or too slow which leads to ineffectiveness or increased risk of adverse effects when using the standard dose.
Pharmacogenetic testing can be used to determine the patient’s genetic variants that affect drug metabolism. The pharmacogenetic interpretation report can then be used as a decision support tool when selecting the medicine and its dosing. Pharmacogenetic testing has been proven to improve treatment outcomes especially in patients with severe depression but also in patients with moderate depression or anxiety disorders 5.
With the help of a pharmacogenetic test the doctor can rule out medications that would not work for the patients as well as adjust the dosing to fit the patient’s metabolic rate. This makes the doctor’s medication decision-making easier and can speed up the process of finding a suitable medication.
Treatment compliance and adherence can also improve when the patient doesn’t have to go through multiple changes in medication or negative experiences of medications that are ineffective or cause adverse effects. Read more
Numerous studies show that pharmacogenetics is cost-effective in the treatment of major depressive disorder 8. In a US study pharmacogenetic testing was shown to bring significant savings in the decreased number of ER visits and hospitalisations. During the 6-month follow-up period pharmacogenetic testing was estimated to lead to savings of 2,000 € ($1,948, SE $611, P < 0.0001, N=817) compared to treatment as usual. 7
The stress on specialised healthcare could be alleviated by utilising pharmacogenetic testing already in primary care. The advances in technology have reduced the price tag of genetic testing significantly in the last decades. Nowadays pharmacogenetic testing is very affordable: the cost of a test is equivalent to the costs of an ER visit. Investing in pharmacogenetic testing can also bring savings in reduced number of lost workdays.
The Abomics interpretation report is designed for the use of e.g., psychiatrists and general practitioners and provides clear, patient-specific recommendations for the use and dosing of different medicines to support the doctor in medication decision-making.
[1] Lääkealan turvallisuus- ja kehittämiskeskus Fimea & Kansaneläkelaitos. (2022) Suomen lääketilasto 2021. Helsinki. https://urn.fi/URN:NBN:fi-fe2022121672023
[2] Abomics GeneRx-tietokanta https://www.terveysportti.fi/apps/generx/
[3] Sangkuhl, K., Klein T., and Altman R. (2011) PharmGKB summary: citalopram pharmacokinetics pathway. Pharmacogenetics and genomics. http://dx.doi.org/10.1097%2FFPC.0b013e328346063f
[4] Häkkinen, K. et al. (2022) Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder. The Pharmacogenomics Journal. 22, 166-172. https://doi.org/10.1038/s41397-022-00270-y
[5] Bradley, P. et al. (2018) Improved efficacy with targeted pharmacogenetic-guided treatment of patients with depression and anxiety: A randomized clinical trial demonstrating clinical utility. Journal of Psychiatric Research. 96, 100-107. https://doi.org/10.1016/j.jpsychires.2017.09.024
[6] 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. https://doi.org/10.1002/cpt.2748
[7] 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
[8] Morris, Sarah A. et al. (2022) Cost effectiveness of pharmacogenetic testing for drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines: a systematic review. Clinical Pharmacology & Therapeutics. https://doi.org/10.1002/cpt.2754
[9] Milosavljević, F. et al (2021). Association of CYP2C19 and CYP2D6 poor and intermediate metabolizer status with antidepressant and antipsychotic exposure: a systematic review and meta-analysis. JAMA psychiatry, 78(3), 270-280. https://doi.org/10.1001/jamapsychiatry.2020.3643
The amount of scientific data on pharmacogenetics is vast and continuously growing and it can be difficult to stay on top of all the emerging research along with your clinical work. This is why the Abomics pharmacogenetic report compiles all the pharmacogenetic knowledge relevant to the clinician as usage and dosing recommendations of medications. Our team of medical doctors with expertise in pharmacogenetics follow closely all the new research in pharmacogenetics and update the recommendations in the report accordingly so that you can always have recommendations based on the latest research at your hand – without the need to go through all the research papers yourself.
The medication recommendations are based on the synthesis of information gathered by our board of medical advisors. The sources include peer-reviewed scientific literature of high quality, FDA’s (U.S. Food and Drug Administration) list of pharmacogenetic biomarkers in drug labels, EMA (European Medicines Agency), CPIC (Clinical Pharmacogenetics Implementation Consortium), and DPWG (Dutch Pharmacogenetics Working Group). The medication decisions for each patient are up to the treating doctor. The medication decisions for each patient are up to the treating doctor.
The Abomics pharmacogenetic report has recommendations for over 100 medicines based on the patient’s phenotype. We have designed the report especially for e.g., psychiatrists and general practitioners and using it doesn’t require specialisation in genetics. The report is easy to use as a medication decision support tool even during a short doctor’s appointment. The report has a summary of medicines that are significantly affected by the patient’s phenotype and practical guidelines for how to use a medicine for each patient specifically. The digital report is searchable so you can find the patient-specific recommendations easily with the name of the pharmaceutical substance.
Contact us about the availability of the test.
Abomics, Abomics PGx, GeneRx, GeneAccount are registered or non-registered trademarks of Abomics Oy in various countries.