100,000 Genomes Project

The 100,000 Genomes Project was an ambitious initiative launched by the UK government in 2012 to sequence 100,000 genomes of NHS patients, with the aims of:

• bringing benefit for patients and set up a genomic medicine service for the NHS for future patients;
• creating an ethical and transparent programme based on consent;
• enable new scientific discovery and medical insights; and
• kick-starting 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.

The Department of Health, as it then was, established and funded a company called Genomics England to deliver the project. Thirteen 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 next-generation sequencing (NGS) technology. After sequencing, the data were analysed by a team of researchers and doctors, before relevant findings, including diagnoses, were passed back to the patient’s doctor to be discussed with the patient.

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 to patients across the NHS.

• 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. 

For clinicians

• Genomics England
• Genomics England: Video about the 100,000 Genomes Project  (video, 5 minutes 51 seconds)
• Genomics England: Participant stories

For patients

• Genomics England: Participants’ FAQs