The North East and Yorkshire Genomic Medicine Service (NEY GMS) builds on the foundations of the 100,000 Genomes project, driving forward its aim of providing extensive access to genomic testing for patients across the region.
Project Overview
First announced in 2012, and led by Genomics England, the national 100,000 Genomes project was set up to study the role our genes play in health and disease by sequencing 100,000 genomes from around 85,000 NHS patients affected by a rare disease or cancer. More information here
You can explore the positive impact of genomics on people’s lives by watching the patient videos from Genomics England (below).
Achievements
The recruitment and sequencing phases were completed in December 2018, with results 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.
As part of the project, participants were also asked if they wanted access to additional findings in their genome sequence. This data was returned to the Genomic Medicine Service Alliance (formed in 2021) and outcomes were shared with participants via their own clinician at a local Trust.
Legacy and Further Information
This project laid the foundations for the launch of the NHS Genomic Medicine Service and subsequently the NEY GMS.
More information is available here: Genomics England – 100K Genomes Project
Contact us to learn more.
Clinical Lead:
Dr. Jackie Cook, NEY GMS Clinical Director (Rare Disease) – view Jackie’s Bio here
We interviewed Jackie in Series One of our Road to Genome Podcast.