100,000 Genomes Project

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.

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.

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.

• 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: About the 100,000 Genomes Project (video, 5 minutes 51 seconds)
• Genomics England: Participant stories
• Selected publications list about the project

References:

• Hocking LJ, Andrews C, Armstrong C and others. ‘Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: Implications for future testing‘. European Journal of Human Genetics 2022: volume 31, pages 231–238. DOI: 10.1038/s41431-022-01226-3
• McDermott F, Newton K, Beggs AD and others. ‘Implications for the colorectal surgeon following the 100,000 Genomes Project‘. Colorectal Disease 2021: volume 23, issue 5, pages 1,049–1,058. DOI: 10.1111/codi.15539
• Peter M, Hammond J, Sanderson SC and others. ‘Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: A mixed methods study‘. European Journal of Human Genetics 2022: volume 30, pages 604–610. DOI: 10.1038/s41431-022-01065-2
• Pichini A, Ahmed A, Patch C and others. ‘Developing a national newborn genomes program: An approach driven by ethics, engagement and co-design‘. Frontiers in Genetics 2022: volume 13, article number 866168. DOI: 10.3389/fgene.2022.866168
• Rahman B, Lamb A, Protheroe A and others. ‘Genomic sequencing in oncology: Considerations for integration in routine cancer care‘. European Journal of Cancer Care 2022: volume 31, issue 3, page e13584. DOI: 10.1111/ecc.13584

For patients

• Genomics England: Participant resources