What is genomics?
When we think of genetics, many of us will think of the famous image of a double helix. This double helix contains all of our genetic information, called DNA, which can be thought of as a sort of blueprint, carrying all of the information our cells need to grow, develop and survive.
We can see genetics in action when we look at inherited similarities between generations – like hair colour, or height. Many conditions, such as haemophilia and some cancers, are also passed down from parent to child through genetics. Looking at the specific genes involved can help us to understand how these conditions are passed on. But looking at single genes doesn’t tell us how they interact with each other. This is where genomics comes in.
‘Genomic sequencing’ is when we look at all of the DNA that someone has – called their genome. Our genes make up about 1-5% of our genome, and we now know that the rest of the genome does other important jobs like regulating our genes. By looking at the entire genome, we’re able to gather more information about every single gene, as well as how they interact together.
Why is genomics important in sarcoma?
Like all cancers, sarcoma is caused by changes to our genetic code – called ‘mutations’. These mutations drive the development and growth of tumours. Genomics means that the DNA found in tumour cells can be compared to the DNA found in healthy tissue cells. By linking this genomic data to a patient’s medical records, we can begin to tease apart the complex relationship between sarcoma and our genes. Currently, genomic testing can be used to help confirm a diagnosis of sarcoma and give a more accurate prognosis. And knowing how a tumour is likely to behave and develop means doctors are able to make more personalised and informed decisions about the most appropriate treatments.
But in recent years it has become clear that further genomic research is key to unlocking the secret of cancers like sarcoma and developing new treatments.
Since 2012, the 100,000 Genomes Project has been collecting tissue samples from people with rare conditions and their families. By diving into the data collected through this project, it is hoped that the UK will be in a position to bring about a new era of personalised medicine.
We are hugely excited about the potential of genomics for sarcoma research. This is why we launched our transformational Genomic Research Programme in 2018, with the aim of bringing about a step change in sarcoma research.