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[1] 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
[2] 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(3), 166–172. https://doi.org/10.1038/s41397-022-00270-y
Almost everyone has at least one genetic variant that affects medication. In a study of over 1000 at the Mayo Clinic patients 99 % had at least one genetic variant that affects their response to medication 1.
According to a meta-analysis, 61.9 % of people are normal CYP2C19-metabolisers 2. This means that roughly 38 % of people are affected when a drug that is metabolised by the CYP2C19-enzyme is prescribed for them. These drugs include many common antidepressants
such as escitalopram and amitriptyline as well as clopidogrel which is often used to prevent blood clots. Especially patients with depression, cardiovascular diseases and patients with multiple medications (polypharmacy) can benefit from pharmacogenetic testing.
Your doctor considers pharmacogenetic testing when prescribing a drug that is affected by pharmacogenetics. Because your DNA remains unchanged your whole life, the results of a pharmacogenetic test will never expire. Once done, the results can aid in medication decision-making also in the future whenever a new medication is considered.
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