Series 4 Episode 2 - Understanding Pharmacogenetics: Essential Concepts for Clinicians

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 today's episode, Dr. Shazia Mahamdallie welcomes back Dharmisha Chauhan, the Lead Pharmacist in the North Thames Genomic Medicine Service Alliance. Dharmisha provides a comprehensive walkthrough of the basic pharmacogenetic principles that clinicians should know. 

They discuss the importance of understanding genomic terminology, single nucleotide polymorphisms (SNPs), and how genetic variations influence individual responses to medications. Dharmisha also explains key genomic terms such as genes, alleles, genotypes, phenotypes, haplotypes, and diplotypes. 

The episode features a practical case study involving a stroke patient, to illustrate the clinical impact of pharmacogenetics and how it can guide medication adjustments to improve patient outcomes.

Additionally, the discussion highlights the significance of designing pharmacogenetic tests with population diversity in mind to ensure personalised medicine is effective across different ethnic backgrounds.

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.