UK Health Secretary Matt Hancock announced yesterday that a project involving Queen Mary University of London researchers has reached its goal of sequencing 100,000 whole genomes from NHS patients.

The 100,000 Genomes Project, led by Genomics England in partnership with NHS England, is a ground-breaking programme which has been based at Queen Mary’s Charterhouse Square campus since 2013, involving 24 of its staff members.

The project’s goal has been to harness whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer.

As a result, the UK has now 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 anonymised clinical and genomic data for research aimed at improving patient health.

Transforming genomics in the NHS

Professor Mark Caulfield from Queen Mary University of London and Chief Scientist at Genomics England, said: “The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS."

“Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care. With the generous support of our participants, the NHS, the National Institute for Health Research and the Government we will continue to ensure the UK’s global leadership in genomic healthcare.”

Other Queen Mary researchers who led the science of the programme include Professor Louise Jones from our Centre for Tumour Biology who completed experiments that optimised 300 cancer diagnostic pathways across England, and Professor Clare Turnbull from Queen Mary’s William Harvey Research Institute who led the validation of the findings.

Personalised care to help patients live longer

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 some breast cancer patients receiving targeted therapies and regular screening for themselves and their children.

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.

Health Secretary Matt Hancock said: “We are leading the world in genomics and this is a major milestone in our mission to provide truly personalised care to help patients live longer, healthier and happier lives."

“I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier and enable patients to take greater control of their own health.”

Genomics England and NHS England say they are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.