Cardiovascular diseases (CVDs), encompassing conditions like heart failure, hypertension, and myocardial infarction, remain a leading cause of disability and mortality worldwide. Traditional therapeutic approaches often fall short due to individual variations in drug response. Cardiovascular pharmacogenomics (cardio PGx) is revolutionizing heart care, integrating genetic insights to tailor treatments and improve patient outcomes. Cardio PGx combines pharmacology and genomics to personalize drug therapies based on an individual’s unique genetic makeup.[1]

The Science Behind Cardio PGx

Cardio PGx is based on the understanding that genetic variations can significantly impact drug absorption, metabolism, efficacy, and safety. Analyzing an individual’s genetic profile can identify specific markers that influence drug responses, enabling personalized treatment plans. Specific DNA-based technologies such as next-generation sequencing, whole-genome sequencing, whole-exome sequencing, and targeted segment sequencing can identify variants in the human genome. This information is particularly relevant for CVD, where many commonly prescribed drugs have PGx testing recommendations on their labels.[1]

Key Applications of Cardio PGx in Cardiovascular Medicine

• Antiplatelet Therapy: Variations in genes like CYP2C19 affect the metabolism of antiplatelet drugs such as clopidogrel, impacting their efficacy in preventing blood clots after percutaneous coronary intervention (PCI). Personalized dosing aims to maximize antiplatelet benefits while minimizing bleeding risks.
• Anticoagulation: Warfarin, an anticoagulant, requires careful dosage adjustments. Variations in CYP2C9 and VKORC1 affect warfarin metabolism and response. PGx-guided dosing algorithms can calculate individualized warfarin doses, reducing the time to achieve stable anticoagulation.
• Statins: Genetic polymorphisms in genes like SLCO1B1 can affect the transport and metabolism of statins, influencing the risk of myopathy. Identifying these variations allows for tailored statin selection and dosing to minimize adverse effects.
• Beta-Blockers and Anti-Hypertensives: Genetic testing can predict individual responses to beta-blockers and anti-hypertensives.[2]

Benefits of Personalized Cardiovascular Treatment

• Improved Treatment Efficacy: Tailoring treatment based on PGx information minimizes the risk of recurrent cardiovascular events.
• Reduced Adverse Drug Reactions: PGx testing identifies individuals at higher risk of adverse drug reactions, allowing for dosage adjustments or alternative medications13.
• Optimized Dosing: PGx-guided dosing ensures patients receive the optimal dose for maximal therapeutic benefits with minimal risks.
• Accelerated Decision-Making: PGx testing reduces the uncertainty of trial-and-error prescribing, providing insights into likely patient responses.

What’s New?

The review paper “Pharmacogenomics revolutionizing cardiovascular therapeutics: A narrative review” explores how pharmacogenomics can revolutionize cardiovascular disease (CVD) treatment, addressing the limitations of the “one-size-fits-all” approach. Heart failure, hypertension, and myocardial infarction have the highest disability-adjusted life years and require tailored interventions. Genetic variants influence responses to drugs like antiplatelets, anticoagulants, and statins. DNA-based technologies, such as sequencing, identify variants affecting drug response and adverse effects. The review highlights specific gene-drug interactions and discusses challenges in clinical implementation, including patient compliance and clinician adoption. Overcoming these obstacles through education and training can facilitate the integration of pharmacogenomics in CVD treatment. Ultimately, personalized medicine guided by pharmacogenomics promises improved outcomes and reduced healthcare burdens in cardiovascular care by giving insight into genetic diversity, and its effect on drug responses. Pharmacogenomic variants help determine specific genetic pathways.  Thus, this has reduced patients’ number of emergency visits and hospitalization.[3]

The Future of Cardio PGx

The clinical exploration of pharmacogenomic variations enhances the ability to predict treatment outcomes and expand personalized medicine in cardiovascular disease management. Organizations including CPIC and PharmGKB support translating clinical study data into actionable guidelines. As genetic secrets are unlocked, cardio PGx holds the key to better outcomes and improved quality of life for individuals at risk of or living with CVD.

References

1. https://www.cambridge.org/core/journals/cambridge-prisms-precision-medicine/article/cardiovascular-precision-medicine-a-pharmacogenomic-perspective/880FCB8BFCA2A4C8506562CD50B83487 
2. https://pmc.ncbi.nlm.nih.gov/articles/PMC3698938/ 
3. https://pubmed.ncbi.nlm.nih.gov/39435035/