The 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has just reached its goal of sequencing 100,000 whole genomes from NHS patients.

This ground-breaking program was launched in 2012, aiming to utilise whole genome sequencing technology to revolutionise the diagnoses and treatment of patients with rare inherited diseases and cancer.

The project has since had outstanding results, with one in four participants suffering from rare diseases receiving a diagnosis for the first time, and potential actionable insights being delivered to up to half of cancer patients where clinical trials and targeted therapies are applicable.

13 NHS Genomic Medicine Centres (GMCs) were created to support the project, along with a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to deliver whole genome analyses to the NHS. Over 85,000 participants, 1,500 NHS staff, over 3,000 researchers were involved in the project, the success of which has seen the UK become the first nation to apply whole genome sequencing at scale in direct healthcare, along with establishing access to high quality de-identified clinical and genomic data for research, enabling the improvement of patient outcomes.

The foundations for an NHS Genomic Medicine Service have now been laid, making equitable access to genomic testing for patients across the NHS from 2019 a reality.