100,000 Genomes Project

Delivered by the Genomic Medicine Centres

The 100,000 genome project sequenced around 70,000 people.

Participants were NHS patients with a rare disease plus their families or NHS patients with cancer.

The aim was to create a new Genomic Medicine Service for the NHS – transforming the way people are cared for. As a result of the project, patients have been offered a diagnosis where there wasn’t one before and in time, there will continue to be the development of new and more effective treatments.

The project also enabled new medical research. Combining genomic sequence data with medical records in the NHS developed a ground-breaking resource for researchers with ethical approval to study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated.

To deliver that project in our region, there were two Genomic Medicine Centres – The Yorkshire and Humber NHS Genomic Medicine Centre (YH GMC) and North East and North Cumbria Genomic Medicine Centre (NENC GMC), who are in the process of returning the last of the project genetics results of Whole Genome Sequencing to the wonderful patients who volunteered to take part in that project.

These were two of 13 Genomic Medicine Centres (GMCs) in England who worked with specialists in hospitals and active patient groups, to identify patients who could benefit from a genome test.

The North East and Yorkshire Genomic Medicine Service will build on the 100k Genome Project which finished in March 2020.


“To continue this multidisciplinary involvement in genomics, the NHSE have plans to develop the GMC work into the GMS Alliance through a procurement exercise in Autumn 2020.”


National Genomic Test Directory

The 2019/2020 National Genomic Test Directory for rare and inherited disorders and cancer.

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GMS Alliance