Pharmacogenetics in Neurology

The National Institute for Health and Care Excellence (NICE) recommends to consider pharmacogenetic testing for patients with ischemic stroke and TIA before starting clopidogrel. (Publication date: 08 May 2024)2

Up to a third of patients may not achieve sufficient efficacy with clopidogrel

Clopidogrel is a prodrug metabolized via CYP2C19 to its active form. Individuals with slowed CYP2C19 metabolism may not convert the drug adequately to its active form, leading to inadequate efficacy in preventing blood clots. Up to a third of patients have a slower CYP2C19 metabolism 6.

The National Institute for Health and Care Excellence (NICE), a governing body for healthcare in the UK, advises conducting pharmacogenetic testing before initiating clopidogrel in patients diagnosed with ischemic stroke or transient ischemic attack (TIA). 2

A meta-analysis evaluating the cost-effectiveness of pharmacogenetic testing in 22 studies out of 23 found that pharmacogenetic testing in the prescription of clopidogrel is cost-effective or cost-saving. 3

According to a health technology assessment (HTA) conducted by NICE, the cost savings generated by the test are approximately €6,000 per stroke patient and about €2,000 per TIA patient.4

[1] 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.
[2] National Institute for Health and Care Excellence (Great Britain). (2023). Draft guidance Clopidogrel genotype testing after ischaemic stroke or transient ischaemic attack and
See also myös: Kmietowicz, Z. (2023). Stroke: Take test for genetic variant to ensure clopidogrel works for prevention, says NICE. BMJ (Clinical research ed.), 381, p1146.
[3] 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.
[4] Carroll, J. et al (2023). Technology Assessment Report commissioned by the NIHR Evidence Synthesis Programme on behalf of the National Institute for Health and Care. Clopidogrel genotype testing after ischaemic stroke or transient ischaemic attack

[6] Scott, S., Sangkuhl, K., Gardner, E. E., Stein, C. M., Hulot, J. S., Johnson, J. A., … & Shuldiner, A. R. (2011). Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450–2C19 (CYP2C19) genotype and clopidogrel therapy. Clinical Pharmacology & Therapeutics, 90(2), 328-332.

The results of the pharmacogenetic test as a report designed for clinicians

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.

Availability of the pharmacogenetic test

Contact us about the availability of the test.