Would you want to know if you were at a higher risk of getting dementia later in life? Would you want to know that you could die under general anaesthesia, or might die suddenly of heart failure? Would you want to know if you had a higher-than-normal chance of getting cancer? You could learn these things by looking at your genome. But would you want to be faced with the answers?
Your genome is the complete set of genetic information in the cells of your body. It is like a recipe book that provides the instructions for who you are, and the recipes are your genes. Each gene provides a set of instructions for the protein molecules that make up your body. Much like how your cake recipe might differ from your neighbour’s, these genetic recipes can differ slightly from person to person. However, if there is a significant error in the recipe – for example, if baking powder were left out – this can have a damaging effect on the final product. So, if there is a harmful variant in a gene, this can affect the protein produced, which can cause genetic disease.
When a doctor suspects that you have a genetic disease, they can now read your genome from cover to cover. After nearly 13 years of international collaboration, the first complete sequence of the human genome was unveiled in 2003. Since then, the cost of genome sequencing has dropped from £1 billion to less than £1,000 allowing genome sequencing to enter routine clinical care, and transforming the way we diagnose and treat disease.
NHS England is currently sequencing 100,000 genomes, and the US has plans to sequence 1m genomes. A 2015 study predicted that up to two billion people worldwide could have their genomes sequenced within the next decade – comparable to the reach of the internet. With so many genomes getting sequenced, and increasing opportunities to get genetic information outside of the healthcare system, you could be next.