Selected genetic findings can refine medicine choice or dose and identify rare inherited contributors to hypertension or thrombosis. Results complement clinical assessment.
Scientific interpretation framework
A clear framework helps visitors distinguish measurement, evidence and responsible translation into care or research.
Evidence level
Each finding is assessed against peer-reviewed literature, professional guidance, analytical validity and the maturity of clinical evidence. Research signals are identified explicitly and are not presented as established care.
Biological and clinical context
Molecular data are interpreted together with phenotype, family history, medicines, imaging, laboratory measurements and population context. No biomarker is meaningful in isolation.
Responsible output
Reports state the method, result, uncertainty, limitations and appropriate next step. Clinically relevant findings require qualified review; research models require validation before use in patient decisions.
Cardiovascular pharmacogenetics
CYP2C19 informs clopidogrel response; CYP2C9/VKORC1 support warfarin dosing; SLCO1B1, ABCG2 and CYP2C9 inform statin-associated muscle-symptom risk.1
Heritable thrombophilia
Reserved for selected venous thrombosis or strong family-history scenarios after specialist review. Common MTHFR polymorphisms are excluded because professional guidance does not support their use.2
Monogenic hypertension
For very young or resistant hypertension, unusual electrolyte/acid–base findings or a strong pedigree.3
From genotype to prescribing decision
A pharmacogenetic result is translated through a defined drug–gene guideline, indication, dose, interacting medicines and renal or hepatic function. The report should state whether a recommendation is strong, optional or unsupported and identify the responsible prescriber.1
What precision testing cannot replace
Genotype does not replace blood pressure measurement, lipid assessment, anticoagulation monitoring, adherence review or evaluation of competing clinical risks. Testing should be ordered only when the result can answer a defined therapeutic question.3
- Lee, C. R. et al. CPIC guideline for CYP2C19 and clopidogrel: 2022 update. Clin. Pharmacol. Ther. 112, 959–967 (2022). doi:10.1002/cpt.2526
- Cooper-DeHoff, R. M. et al. CPIC guideline for SLCO1B1, ABCG2 and CYP2C9 and statin-associated symptoms. Clin. Pharmacol. Ther. 111, 1007–1021 (2022). doi:10.1002/cpt.2557
- Johnson, J. A. et al. CPIC guideline for pharmacogenetics-guided warfarin dosing. Clin. Pharmacol. Ther. 102, 397–404 (2017). doi:10.1002/cpt.668
- Hickey, S. E. et al. ACMG practice guideline: lack of evidence for MTHFR polymorphism testing. Genet. Med. 15, 153–156 (2013). doi:10.1038/gim.2012.165