Series 4 Episode 3 - Advancing Pharmacogenetic Testing: Role of Research and Clinical Trials

Welcome to Genomics Now, a podcast series where you can learn how genomics is developing in England's NHS. This podcast series is recorded in 2024 and is part of the North Thames Genomic Medicine Service's educational toolkit.

In each bite-sized episode, we explore what is changing in genomics. We answer the questions on genomics we've been asked by different healthcare professionals, discuss the ways genomics may impact various healthcare roles, and how genomics can be used to improve patient care successfully.

In this episode, Dr. Shazia Mahamdallie sits down again with Dharmisha Chauhan, the Lead Pharmacist at the North Thames Genomic Medicine Service Alliance. Together, they dive into the critical role of research and clinical trials in advancing pharmacogenetic testing. Dharmisha explains how different types of studies, such as randomised controlled trials and cohort studies, provide essential evidence for implementing pharmacogenetic testing in clinical practice.

This episode provides a fascinating look at the research that is shaping pharmacogenetics, underscoring the importance of generating diverse data representative of different populations. You'll hear about landmark research on Clopidogrel's impact on stroke patients, including key UK-based studies and the role of gene panels in broader pharmacogenetic testing.

Visit our website for more resources and updates on genomic-based clinical developments and research. If you've enjoyed this episode, don't forget to share your thoughts and spread the word by tagging the North Thames Genomic Medicine Service on social media.

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Studies referenced in this episode:

• Jia, D. M. et al. (2013). CYP2C19 polymorphisms and antiplatelet effects of clopidogrel in acute ischemic stroke in China. Stroke, 44(6), 1717–1719. https://doi.org/10.1161/STROKEAHA.113.000823
• Pilling, L. C. et al (2021). Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study. BMJ open, 11(12), e053905. https://doi.org/10.1136/bmjopen-2021-053905
• McDermott JH et al. The role of CYP2C19 genotyping to guide antiplatelet therapy following ischemic stroke or transient ischemic attack. Expert Review of Clinical Pharmacology. 2022;15(7): 811–825. https://doi.org/10.1080/17512433.2022.2108401.
• Swen, J. J., van der Wouden et al. Ubiquitous Pharmacogenomics Consortium (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet (London, England), 401(10374), 347–356. https://doi.org/10.1016/S0140-6736(22)01841-4