What is pharmacogenomics?

In this explainer episode, Dr Jude Hayward, GP and Principal Clinician for Primary Care at Genomics England, explains what we mean by pharmacogenomics.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

If you’ve got any questions, or have any other topics you’d like us to explain, let us know on [email protected].

You can download the transcript or read it below.

Florence: [00:00:00] What do we mean by pharmacogenomics? My name is Florence Cornish, and today I'm here with Jude Hayward, who is principal clinician for primary care here at Genomics England, and she is going to be telling us much more about the topic.

So, Jude, thanks so much for being here. It's great to have you.

Jude: Thank you, Florence, and thank you for the invitation, delighted to be here. I'm Dr. Jude Hayward. I am principal clinician for primary care, and that's my role within Genomics England. I am a GP, and I work half-time as a GP, and I also work as a GPER, a GP with an extended role in clinical genetics. I have other roles nationally, working as primary care lead for the Genomics Education Programme, and also representing genomic medicine for the Royal College of General Practitioners.

And really, this is through my interest in implementing genomic medicine into primary care, supporting my primary care colleagues, and this most recently has led me to have an interest in pharmacogenomics.

Florence: [00:01:00] And so, Jude, when we say the word pharmacogenomics, we're actually saying a combination of two words, right? We're saying pharmacology, combined with genomics.

And so, it might be helpful if we could start by explaining each of those on their own first. Could you talk through what we mean by the word genomics?

Jude: Yes, absolutely. And genomics will be familiar to the listeners of the podcast. The genome is our full set of DNA. Part of the genome is genes, and each of these genes acts as an instruction, so the genome acts as an instruction manual for everything about us. Genomics is the study of this genome, and genomic medicine is how the genome can impact their health.

Florence: Mm-hmm.

Jude: Moving on to pharmacology, this is the study of how medicines and chemicals interact with and affect the body and how we process and handle medications within our bodies.

Florence: And so if we combine both of these together, genomics and pharmacology, we get this pharmacogenomics, which is presumably kind of a mashup of the two, right? Looking at how a person's genes can affect their response to medicines.

[00:02:00] Would you say that that's accurate? Can you tell us a little bit more about it?

Jude: Yes. I think that's a great description, Florence. So yes, essentially, pharmacogenomics is a study of how a person's genome interacts with the way that they respond to medication. So, it is a type of personalized medication. We all carry the same genes. We all carry the genes which affect the way that we respond to medications, and we carry changes or variants in these genes which affect the way that we handle certain medications.

[00:02:30] But these only become relevant if we are prescribed a medication which is going to interact and form what's called a gene-drug pair.

Florence: Yeah. So, tell me a little bit more about that. Why do medicines work differently for different people? Why do we see this happening?

Jude: Well, there's a variety of different reasons for this. There's multiple factors which affect how an individual may respond or react to a certain medication. So pharmacogenomics is one, and even there, there are multiple different variants that may