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.