Wales starts taking part in 100,000 Genomes Project

The agreement will support the Welsh Government’s Genomics for Precision Medicine Strategy.

[Cardiff, Wales] Wales is joining the 100,000 Genomes Project, it has been announced today.  

Cardiff Vale University Health Board, Cardiff University and Genomics England have signed an agreement through which 420 whole genome sequences (WGS) have been commissioned for patients with rare diseases, their families and patients with cancer.

The 100,000 Genomes Project aims to sequence 100,000 genomes from 70,000 people, and, until now, more than 50,000 whole genomes have been sequenced, with the milestone set to be reached before the end of this year.

“The collaboration with Genomics England will enable patients with rare diseases in Wales to benefit from this exciting and transformational project, with the potential to bring quicker and more accurate diagnoses,” said Vaughan Gething, Welsh Health Secretary.

The initiative is linked to the establishment of the first Genomic Medicine Centre (GMC) in Wales, based at the Cardiff Vale University Health Board, backed by the Welsh Government and the Medical Research Council.

Dr Rob Orford, Chief Scientific Advisor for Health, said the development of the GMC in Wales will ‘act as a springboard for the translation of cutting edge genomic research into better services and treatments’ for patients in Wales.

It will also support the Welsh Government’s Genomics for Precision Medicine Strategy.

Professor Julian Sampson, lead of the the project in Wales, said: 

“Patients in Wales with rare conditions in whom routine testing failed to make a diagnosis now have a chance to access the most comprehensive genetic test available; sequencing of their entire genome.

“This will increase the chances of achieving a specific diagnosis to inform their health care. Wales’ participation in this UK-wide project is helping to establish genomic medicine in the NHS. This will have far-reaching benefits for the understanding, diagnosis and treatment of many conditions.”

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