Revolutionizing Clinical Practice with Pharmacogenomic Prescribing

Recent advancements in pharmacogenomics, the study of how genetic variations affect individual responses to medications, have paved the way for integrating tailored prescribing practices into everyday healthcare. This innovative approach aims to enhance patient outcomes while also reducing healthcare costs.

The challenge lies not in generating pharmacogenomic data, which can be accomplished relatively easily in laboratory settings, but rather in effectively delivering this information to healthcare professionals in an accessible and actionable format. As a result, only a small fraction of patients currently benefit from personalized medication strategies.

During a recent congress held by the European Society of Human Genetics, a researcher from the University of Manchester presented a breakthrough method for embedding genomic data into electronic health records (EHRs). This initiative, part of the NHS-England Network of Excellence for Pharmacogenomics & Medicines Optimization, ensures that clinicians across both general practices and hospitals can access genomic information to determine the safest and most effective treatments for patients.

Unlike genetics focused on rare diseases or cancer, pharmacogenomics is applicable throughout a patient's life whenever medication is prescribed. However, many healthcare providers lack extensive training in interpreting complex genetic data.

The Manchester-based team has developed an innovative informatics solution that presents genomic data directly within the clinician's EHR, seamlessly integrating it into their routine workflow without disruption. This system is compatible with various genetic testing platforms and major EHR systems worldwide, allowing healthcare professionals to receive contextualized guidance without the need for interpreting detailed genetic reports.

The PROGRESS program, which involved 20 sites across England, recruited patients prescribed common drugs such as statins, opioids, antidepressants, and proton pump inhibitors. The pharmacogenomic insights were incorporated into their EHRs, tracking actionable genetic variants, prescription modifications, turnaround times for results, and adherence to provided guidance.

An interim analysis of the initial 500 participants revealed that pharmacogenomic insights were provided to all, with a median turnaround time of just seven days. A significant 95% of participants exhibited pharmacogenomic results that influenced their medication prescriptions, with over 25% of them receiving adjustments to safer or more effective alternatives.

Dr. John McDermott, who led the study, emphasized the importance of justifying large-scale interventions from a health economic perspective. Previous studies have indicated the potential benefits of pharmacogenomics, particularly concerning specific medications, genes, and clinical situations. For instance, the UK's National Institute for Health and Care Excellence (NICE) has recommended that all patients who have experienced a stroke or transient ischemic attack undergo pharmacogenomic testing to guide their antiplatelet therapy choices. This recommendation was based on a health economic analysis that projected substantial savings for the health system through stroke prevention and improved quality of life.

With proof that genomic data can be effectively integrated into routine clinical pathways and can inform treatment decisions, the research team is now planning to utilize routinely collected healthcare data to examine the effects of these prescribing changes on healthcare utilization. They aim to ascertain whether such interventions can lead to fewer follow-up appointments, reduced emergency department visits, and overall savings on prescribing costs.

The study highlighted the significant willingness of clinicians to adhere to pharmacogenomic guidance, likely due to the ease of data presentation akin to other standard biomarkers used in clinical practice. Adjustments in prescribing based on renal function and other biomarkers are common, and this new system mirrors those established practices.

Looking ahead, there is a vision for individual pharmacogenomic profiling to become a standard aspect of patient care. The findings of this study demonstrate its feasibility, and future research will focus on confirming its economic benefits for the healthcare system.

Professor Dame Sue Hill, Chief Scientific Officer at NHS England, remarked on the transformative potential of such studies, emphasizing the real impact on patient care through personalized medicine. The adjustments made for over a quarter of participants underscore the significant improvements in treatment safety and efficacy that can be achieved through pharmacogenomics.

As noted by Professor Alexandre Reymond, chair of the conference, this research is universally relevant, as every individual possesses several pharmacogenomic variants that can influence medication outcomes. Targeted genomic treatments have the potential to significantly mitigate risks associated with these variants.