What is a genome?
Your genome is one whole set of your genes, plus all the DNA between your genes. There is a copy in almost every cell of your body and it is the instructions for making, running and repairing you. Genes account for less than 5% of your genome; it used to be thought that the rest of the DNA was junk but now we know all of your genome is important. That is why we are doing whole genome sequencing. Sequencing means reading all the 3 billion DNA letters in your genome one by one.
Aims of the project
Improving care for patients: Some patients with rare disease may get a diagnosis for the first time or discover what treatment might work best.
Setting up an NHS genomic medicine service: By the time it finishes, this project will have put everything in place to enable the NHS to offer genomic medicine to those patients who need it. Genomic medicine will mean personalised treatment for patients.
For future generations: By looking at all the 100,000 Genomes Project data, scientists will gain new insights and understanding about the causes of disease and find better ways of helping patients, especially those who have conditions that are currently hard to treat.
To kick start a UK genomics industry: Participants generously agree that researchers from industry such as pharmaceutical companies can look at their data. This is the best and quickest way to ensure that understanding from the project is turned into new medicines and diagnostics for patients. It will also help establish new jobs and companies in this important field in the UK.
Details of the approach being adopted to genomics research using the data collected from the 100,000 Genomes Project is provided on the Genomics England website.