100,000 whole genomes sequenced in the NHS

The 100,000 Genomes Project has sequenced 100,000 whole genomes, helping to improve diagnosis and treatment for patients with rare diseases and cancer.
 
The Health and Social Care Secretary Matt Hancock has announced that the 100,000 Genomes Project has reached its goal of sequencing 100,000 whole genomes from NHS patients.
 
The 100,000 Genomes Project uses whole genome sequencing technology to improve diagnoses and treatments for patients with rare inherited diseases and cancer. It is led by Genomics England and NHS England.
 
Since the project was launched in 2012 it has delivered life-changing results for patients who have had their genomes sequenced, with 1 in 4 patients with a rare disease receiving a diagnosis for the first time.
 
Thirteen NHS Genomic Medicine Centres (GMCs) were created to support the project, along with a state-of-the-art sequencing centre and an automated analytics platform to return genome analyses to the NHS.
 
The UK is the first nation in the world to apply whole genome sequencing at scale in direct healthcare. Genomics can enable doctors to identify those at risk of disease, help prevent it and provide personalised treatments to give patients the best chance of recovery.
 
To build on the project’s success, in October the Secretary of State set out an ambition to sequence 5 million genomes in the UK over the next 5 years. The health secretary also announced the launch of the NHS Genomic Medicine Service. This will see all seriously ill children and adults with certain rare diseases or cancers offered whole genome sequencing as part of their care from 2019.
 
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