What is genomics?

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What is genomics?

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In this explainer episode, we’ve asked Ella Davyson, Genomics Data Scientist, to explain the meaning of the term genomics. 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 podcast@genomicsengland.co.uk. You can download the transcript or read it below. [00:00:00] Florence: What is genomics? My name is Florence Cornish, and today I'm joined by Ella Davyson, who is a genomics data scientist here at Genomics England, and she is here to explain the topic in much more detail So, Ella, we obviously both work at Genomics England. This podcast is called Genomics 101, so I guess it's fitting that we have an episode dedicated to explaining the term 'genomics'. [00:00:26] But before we get into that, I think it would be good if you could first explain what we mean by the term 'genome'. [00:00:32] Ella: Thanks, Florence. The genome is, essentially you can think of it like a manual booklet, or instructions that the body uses in how to grow, survive, and function, and this is a manual that's in every single cell within our body, and it tells our cells exactly how to divide, how to survive. [00:00:54] For example, the genome in the pancreas, in pancreatic cells will tell those cells how to produce proteins such as insulin that we need to control our blood sugar. And also, the genome within our eye cells will tell the cells how to generate photoreceptors to enable us to see. So the genome is essentially like the ultimate guide that our body uses to tell it how to create everything that we need to survive going forwards. [00:01:25] Florence: So then, what do we mean by the term 'genomics'? [00:01:30] Ella: So, genomics is essentially the study of the entire human genome. So we study its structure and also how it functions, in terms of how is this instruction manual being read by the body, and how does that result in healthy human beings that we see today. [00:01:48] Florence: So when we're talking about studying DNA, lots of our listeners might have heard the term 'genetics', which kind of also refers to the study of DNA and genes, so it might be a little bit confusing. [00:01:58] So what's the difference between the two? What's the difference between genetics and genomics? [00:02:04] Ella: So genetics is specifically the study of genes in the genome, and genes are part of the instruction manual, that specifically tell the body to produce a certain thing. So, in our insulin example, there is an INS gene, so, which is the gene in the genome or the instruction manual that specifically tells the cells to make insulin and to produce this product. [00:02:30] There are many different genes in our genome, and genetics is the study of all of these. In contrast, genomics is the study of the entire instruction manual altogether, so that includes all of the genes in genetics and also everything else in the manual. So, genetics is limited to the study of these parts of the manual that clearly encode certain proteins or products such as insulin. Genomics is the study of everything all at once, everything under the bathroom sink. So yeah, the confusion I think can arise a lot because historically when we first started looking at DNA and researching genetics, we didn't have the technology to look at the whole genome all at once, and with older sequencing technologies we would focus on particular genes that we knew important for certain diseases. [00:03:19] So in diabetes, for example, they would instead specifically look at the insulin gene and see how does this influence diabetes, rather than looking at the entire instruction manual at once. Nowadays, we do have that technology, and that is what we do here at Genomics England, just use that to look at the entire genome rather than specific subsets of the genome, so specific genes. [00:03:45] We can look at everything in its entirety. So, you can kind of think of genomics as a much broader, more complete study of genetics. [00:03:56] Florence: So speaking of genomic testing, I don't know if you saw, but in the government's 10-year Health Plan that they published last year, they predicted that genomics could play a role in up to 50% of healthcare interactions. [00:04:08] Could you tell me a bit about why genomics is important in healthcare? [00:04:12] Ella: So that's a really exciting point, and I think one that we should be all striving towards. So, genomics can play a role in healthcare in so many different ways. I think before going into each of them, it's kind of maybe important just to illustrate that our genomes between two, two people are 99.9% the same. [00:04:38] So we're both humans. We are both the same species. There is 0.1% difference between two people's genomes, and those differences underlie all the uniqueness that makes a person a unique individual. [00:04:54] So personality, ...

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