Goal reached by 100,000 Genomes Project

The 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients. This ground-breaking programme was launched in 2012, with the goal of harnessing whole-genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer.

The 100,000 Genomes Project has delivered life-changing results for patients, with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.

Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, and an automated analytics platform to return whole-genome analyses to the NHS.

As a result, the UK has become the first nation in the world to apply whole-genome sequencing at scale in direct healthcare, as well as providing access to high-quality de-identified clinical and genomic data for research aimed at improving patient outcomes.

The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.

 

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