Skip to main content
Public beta This website is in public beta – please give your feedback.

Overview

The 100,000 Genomes Project was an ambitious initiative announced by the UK government in December 2012 to sequence 100,000 genomes of NHS patients. Its aims were to:

  • benefit current patients and set up a genomic medicine service within the NHS for future patients;
  • create an ethical and transparent programme based on consent;
  • enable new scientific discovery and medical insights; and
  • kick-start the development of a UK genomics industry.

The patients recruited included those with rare diseases and their families seeking diagnoses, and those with cancer seeking opportunities for targeted therapies.

How the project was run

In 2013, the Department of Health (as it was then known) established and funded a company called Genomics England to deliver the 100,000 Genomes Project. As part of the project set-up, 13 NHS Genomic Medicine Centres (GMCs) were created, each encompassing several NHS trusts and hospitals. The NHS GMCs identified, recruited and consented patients, then collected DNA samples and clinical information for analysis.

Each DNA sample underwent whole genome sequencing, using Illumina massively parallel sequencing (sometimes called next-generation sequencing) technology. After sequencing, the data were analysed by a team of researchers and doctors before relevant findings, including diagnoses, were passed back to each patient’s doctor to be discussed with the patient.

Completion of the project

The recruitment and sequencing phases of the 100,000 Genomes Project were completed in December 2018, with results being returned to the NHS by July 2019. One in four participants with a rare disease received a diagnosis for the first time, and up to half of cancer patients received a clinically actionable result, leading to an opportunity to enter a clinical trial or receive a targeted therapy.

The project laid the foundations for the launch of the NHS Genomic Medicine Service, providing ongoing extensive access to genomic testing for patients across the NHS.

Key messages

  • 100,000 genomes were sequenced from patients with cancer and rare disease.
  • One in four participants with rare disease received a diagnosis for the first time.
  • Up to half of cancer patients received a clinically actionable result.
  • The project paved the way for the NHS Genomic Medicine Service.

Resources

For clinicians

References:

For patients

 

Tagged: Sequencing, Technologies

↑ Back to top
  • Last reviewed: 19/03/2024
  • Next review due: 19/03/2026
  • Authors: Dr Amy Frost
  • Reviewers: Professor Barbara Jennings, Professor Kate Tatton-Brown