By tailoring drug treatments to individuals based on their genetic makeup, pharmacogenomics has been promising to transform drug prescribing for some years. Recent advancements and the increasing use of pharmacogenomics in healthcare systems worldwide showcase the way forward for the broader use of genomic data in patient care. This integration ensures healthcare providers have access to crucial genetic information specifically for prescribing medications. This is an exciting field, with recent advancements paving the way for genomics to play a central role in healthcare. The acceptance of pharmacogenomics in healthcare is finally gaining momentum and continues to grow.
In this blog, I will delve into some of the growing acceptance in healthcare to innovative approaches in various countries, and how a database will facilitate analysis and interpretation for all. The progress being made today is transforming our understanding and use of genetic information in medical treatments.
NHS England’s inclusion of pharmacogenetic testing
Mavacamtens is the latest medication to be updated on the NHS England genetic test directory. It is a medication used to treat hypertrophic cardiomyopathy, a common condition that can lead to heart failure. Its effectiveness can vary significantly among individuals due to genetic differences. By identifying patients who are likely to respond well to mavacamten, healthcare providers can adjust treatment plans accordingly, either by modifying the dosage or prescribing alternative medications. This personalised approach not only enhances patient outcomes but also reduces the risk of adverse drug reactions. The number of pharmacogenetic tests available within NHS England is expected to increase.
Spain’s pharmacogenomic testing initiative
Spain is making significant strides in integrating pharmacogenomics into its healthcare system by introducing pharmacogenomic testing at a national level, covering 65 drugs and 12 genes. By incorporating pharmacogenomic testing into routine clinical practice which not only improves patient care, but Spain is setting a precedent for other countries to follow.
The role of pharmacogenomics in integrating genomic data into health records
Pharmacogenomics is playing a pivotal role in driving the integration of genomic data into electronic health records (EHRs). As healthcare systems increasingly recognise the value of genetic information for the clinical management of patients, pharmacogenomics is leading the way in setting standards for the mainstreaming of genetic data in healthcare.
Integrating pharmacogenomic data into electronic health records offers numerous benefits – it allows healthcare providers, with a particular emphasis on pharmacists, to access comprehensive genetic information at the point of care, enabling them to make informed decisions about drug therapies. As standards are established and best practices are developed, other areas of genomics, such as disease risk prediction, will also benefit from this integration.
Biobank participant platforms
The Estonian Biobank is taking a unique approach with its participant platform that provides personalised health information to its almost 200,000 participants, including pharmacogenomic data. This platform includes information on 28 medicines (covered by 9 genes), allowing participants to access relevant genetic information that can guide their healthcare decisions. By empowering individuals with knowledge about their genetic predispositions, the Estonian Biobank is promoting proactive healthcare management. Participants can use this information to discuss treatment options with their healthcare providers, ensuring that their drug therapies are tailored to their genetic profiles.
Lifelines, a biobank of 15,000 participants in the Netherlands, has also taken this approach of sharing pharmacogenomic information with its participants through an app. This approach not only enhances patient engagement but is also providing evidence and research on one of the potential routes for relaying and managing pharmacogenetic information for everyday healthcare.
Pharmacogenomics passport
The concept of a pharmacogenomics passport has been proposed as a useful tool for preemptive genetic testing. In the Netherlands, this idea has been tested with the “DNAmedicatiepas” – a “DNA medicines pass”. It contains a QR code with the patient’s relevant genetic variants, which can be scanned to adjust prescriptions accordingly. This pass enabled physicians and pharmacists to tailor drug treatments based on an individual’s genetic information. The pass was available to a limited group at the Leiden University Medical Centre (UMC) and Amsterdam UMC who already had their whole exome sequencing information available. It is anticipated that as the cost of sequencing decreases and data management structures are developed, broader implementation of such a pass will become feasible.
The launch of PharmFreq database
The recent launch of the PharmFreq database marks another milestone in pharmacogenomics. PharmFreq is a comprehensive atlas of global populations allelic variation in clinically important pharmacogenes. This database provides valuable insights into how genetic variations affect drug responses across different populations. Its detailed map of genetic diversity, PharmFreq helps researchers and healthcare providers understand the implications of genetic variations on drug efficacy and safety. This resource is particularly valuable for making pharmacogenomics applicable on a global scale, as it highlights the need for personalised approaches in diverse populations.
However, despite the advancements represented by PharmFreq, there is still a need for further research in underrepresented populations. Many genomic databases lack sufficient data from certain ethnic groups, which can limit the applicability of pharmacogenomic findings. Additionally, there is a need for more research on medicines used for diseases that are underrepresented in pharmacogenomic studies, such as tuberculosis, HIV and malaria.
What next
Pharmacogenomics is at the forefront of personalised medicine, offering the promise of tailored drug treatments that improve patient outcomes and reduce adverse reactions. Additionally, as pharmacogenomic data is being integrated into health records it is setting the stage for the broader mainstream use of genomic data in healthcare by exploring how to manage and present genomic results for clinical use. While there is still a lot of progress to be made, the advancements in pharmacogenomics are truly remarkable. As data management challenges and enhanced IT infrastructure are gradually resolved, the potential for improved patient outcomes grows.
The journey continues, and with each step forward, we move closer to a healthcare system that is more precise, secure, and patient-centered. The Prophet project, of which we are part of, has been reviewing the field and holding a workshop on the issues related to pharmacogenomics as a relevant case for implementing personalised prevention. Stay tuned, as the future of pharmacogenomics promises to be an exciting and transformative space to watch.