Pharmacogenomics at the forefront of transforming personalised carePharmacogenomics at the forefront of transforming personalised care

Pharmacogenomics (PGx) is emerging as a crucial tool in optimising medication use, improving patient outcomes, and enhancing healthcare cost-effectiveness. By integrating PGx into Comprehensive Medication Management (CMM), clinicians can personalise treatment plans based on an individual’s genetic profile, thereby significantly reducing the risk of adverse drug events (ADEs), a leading cause of preventable mortality. This approach allows for tailoring prescriptions to genetic variants that impact drug metabolism, making medication regimens safer and more effective. This individualised approach mainly benefits patients with multiple chronic conditions, reducing the risk of adverse drug reactions and optimising treatment.

How pharmacogenomics can prevent adverse drug events

ADEs are a leading cause of preventable death, often driven by the inappropriate use of medications, especially in patients with polypharmacy. Poorly managed medication regimens not only increase healthcare costs but also contribute to morbidity and poor patient outcomes. CMM offers a structured approach to address these challenges, ensuring that each medication is appropriate, effective, and safe for the patient’s conditions. CMM has been shown to improve medication adherence, patient experiences, and overall healthcare outcomes while reducing costs. 

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By incorporating genetic variants into medication management, PGx helps prevent medication-related problems and improves safety, making CMM even more effective. As a result, pharmacogenomic testing, combined with CMM, shifts healthcare towards precision medicine, moving away from a one-size-fits-all model to more tailored, cost-effective treatments.

Effectiveness of pharmacogenomics in clinical settings

A recent study explored the clinical utility of a pre-emptive pharmacogenetic panel across multiple European healthcare systems. This open-label, multicentre, cluster-randomised study included over 6,900 patients from hospitals, community health centres, and pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK). 

Patients were genotyped for 50 variants in 12 genes, with those carrying actionable variants receiving genotype-guided treatment according to Dutch Pharmacogenetics Working Group (DPWG) recommendations. The study found that genotype-guided treatment significantly reduced the occurrence of clinically relevant adverse drug reactions compared to standard care. According to Swen et al., a 30 per cent decrease in the risk of developing clinically relevant ADEs was demonstrated across the diverse European healthcare settings. The results demonstrate the feasibility and effectiveness of large-scale genotype-guided treatment, highlighting its potential to improve drug safety and reduce adverse reactions in diverse healthcare settings.

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How pharmacogenomics can reduce healthcare costs

Recent studies emphasise the value of PGx-guided therapy in reducing healthcare costs by preventing ADEs, particularly among patients with polypharmacy or multimorbid conditions. For example, PGx testing can help identify genetic polymorphisms, such as variants in the CYP2C19 or CYP2D6 genes, that affect how patients metabolise common medications like clopidogrel or antidepressants. This knowledge can prevent potentially life-threatening reactions or inefficacy due to improper drug dosages. 

Furthermore, integrating PGx into CMM care models presents substantial cost-saving opportunities. A study by Bain et al. highlighted that pharmacist-led pharmacogenomics programs can lead to significant cost avoidance, particularly in elderly populations. This study reported a mean cost avoidance of US$1,983 per actionable drug-gene pair. By using PGx to guide drug therapy, healthcare providers can avoid unnecessary prescriptions and adverse events, thus lowering overall treatment costs and offering an optimistic outlook on the financial benefits of this integration.

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The role of pharmacogenomics in the push toward personalised medicine

As the healthcare system moves toward more personalised medicine, the cost-effectiveness of PGx, particularly in conjunction with CMM, becomes increasingly apparent. It provides a structured medication management method that improves patient care and offers economic benefits by reducing the burden of medication-related complications. 

Integrating PGx into routine clinical practice is a forward-thinking approach that promises to transform healthcare delivery, making treatments more targeted and efficient. Moreover, a recent study assessed the cost-effectiveness of PGx-guided prescribing to prevent gene-drug-related deaths in the Netherlands. This analysis focused on seven drugs with essential drug-gene interactions (DGIs) identified by the DPWG. 

The study revealed that PGx-guided prescribing could reduce gene-drug-related mortality by 10.6 per cent and prevent 419 deaths annually, representing 0.3 per cent of all drug initiators, at an estimated cost of €51,000 (approx. US$55,200) per prevented death. These findings underscore the immense potential of PGx to save lives and reduce healthcare costs related to severe ADEs. 

As more healthcare systems consider the broader adoption of PGx, this study provides strong support for its implementation, especially for drugs with high-risk DGIs. Furthermore, as genetic testing becomes more affordable, the cost-effectiveness of this precision medicine approach is likely to improve further, offering a promising future for healthcare.

References available on request.

Dr. Mohamed Nagy is the Pharmacy Director at the Children’s Cancer Hospital in Egypt, as well as the Head of Personalised Medication Management and Vice Chair of the Global PGx Committee.