The 100,000 Genomes Project: the new genomic medicine service for the NHS

In April 2003 one of the most significant scientist breakthroughs of modern time was announced. After years of painstaking research carried out by thousands of dedicated scientists across the world, the complete genetic code of human being – their genome – could now be published.

In the UK, this great discovery turns out being a real opportunity thanks to 100,000 Genomes Project. To bring the predicted benefits of genomics to NHS patients, British Prime Minister David Cameron launched the 100,00 Genomes Project in late 2012. This flagship project will sequence 100,000 whole genomes from NHS patients by 2017. Its main aim is to enable new scientific discovery and medical insights. The project will focus on patients with cancer.

Why cancer? Cancer is strongly linked to changes in genome. Although a cancer starts with the same DNA as the patient, it develops mutations or changes which enable the tumor to grow and spread. Knowing and understanding DNA changing strongly indicates which treatments will be the most effective. Genomics has already started to guide and inform doctors about the best treatment for individual patients. Many more cancer types, including those for whom there is hardly any successful current treatments such as lung cancer could be helped if only we knew which gene changes were important.

The project results appeared cheering straight away: many patients involved in the 100,000 Genomes Project have already benefitted because a better treatment is identified for them. To be honest, I strongly believe that, for most, the benefit will be in knowing that they will be helping people like them in the future through research on genome data they generously allow to be studied.

The 100,000 Genomes Project will use the generosity of patients and the outstanding skills and talent found in the life sciences’ sectors in the UK to help deliver this project.

I think this could be a great teaching for all of us: enabling organizations to analyze our genome and helping research out is a bold ambition with benefits for all.



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