We all go through changes in life, whether it be moving houses to changing our diets. These can be classified as macroscopic changes in life, but certain changes can occur at the microscopic level too. You might have heard these been called ‘mutations’, but today it is preferable to call them, ‘genetic variations’, or simply, variants. When we hear the word ‘mutation’, we tend to think of some kind of exotic animal concoction, however mutations, or rather variants, are a natural part of life (…and unfortunately don’t allow us to gain super-human strength or fly. Genetic variants arise in the chapters (genes) of our book, called the genome. Much like family traditions that are altered as generations go on, the human genome can gain genetic variations over time, and just like traditions, these variants are what define you. Genetic variations are the reason why we are distinctive both as a species but also as individuals, so what are they?
Well, the human genome is made up of a four-letter alphabet; A, T, C and G. The ‘chapters’ in the genome, called genes, are made up of many ATCG repeats and when our cells’ machinery read these genes, they make proteins. These proteins make up you! They are the reason why you see, live and breathe … so our genome is pretty important. However, when a genetic variant arises on a gene, one or more of these letters change to produce a new variant. For example, ‘A’ could change to a ‘C’ and this can cause problems for our cells’ machinery. For instance, take the word ‘pool’. When we read this, we know it means a mass of water, but if we change one letter in this word e.g. to ‘popl’, we can’t translate this to have a meaning. The same problem arises in our cells when the letters mutate to produce a new genetic variant, meaning they can’t translate the genes into proteins. Some new variants can still be read e.g. ‘poll’ …but this means something completely different! The current issue in biology is that there are 3 billion of these letters to get through in one human genome (an average 250-page book only has 400,000!), and any one of these letters could be mutated. This means some of the genetic variants out there and their effects still might not be understood by scientists.
At Dante, when we sequence your genome we give you the raw data. This means we give you what scientists know now about the genetic variants you have, and what they don’t know. But what’s the point in knowing you have a genetic variant if even science doesn’t know what it means yet? Well you would be sharing the same mindset posited by traditional genetics, which claims that discovering a ‘non-actionable’ variant is well, ‘useless’. This is not the case. If Dante find a ‘non-actionable’ genetic variant in your genome, this actually gives you the chance to shape the future of research and start rare disease groups or even push biotech research to find out what these variants of your gene mean. If there is a variant of the gene, there is a variant… just because we do not understand it does not make it any less valid or significant. Furthermore, when we take blood test at doctors, do we only accept the results we understand? No, we explore every result, and this process can lead to a greater understanding of our bodies. So why isn’t this school of thought used by genome sequencing companies? At Dante that’s what we are doing. So let’s take a leap out of Sir Isaacs Newtons book where the first law of motion states, ‘A body at rest will remain at rest, …unless it is acted upon by an external force’, and together we can be that external force to change these ‘non-actionable’ genetic variants into actionable!