UK Project Hits 100,000 Genomes Target

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In a step forward for the world of personalized medicine, the UK Government-backed 100,000 Genomes Project has reached its sequencing target.

The project, which is one of the largest of its kind, was designed to collect genomic data to improve the capacity of personalized medicine, as well as learning more about the genetic basis of disease.

It launched in 2012 in a collaboration between Genomics England, a company owned and funded by the Department of Health & Social Care, and NHS England, with investment of more than £300M (€337M).

Recruiting primarily participants with rare disease, their families, and people with some cancers, it has already allowed a significant number of those involved to receive a diagnosis for the first time in their life.

The project has also allowed researchers and biotechs to access anonymized genomics data to help develop new treatments through a collaboration with US-based data science company IQVIA.

As part of the project, Genomics England created 13 specialist genomics centers in collaboration with the UK’s National Health Service, as well as setting up a large-scale sequencing center run by Illumina and an automated analytics platform to send sequence data back to the NHS.

These centers and the large data resource created by the project will allow the UK Government to launch the NHS Genomic Medicine Service. This service will allow patients better access to genetic and genomic testing services and to help bring more personalized medicine to people across the UK.

“Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care,” said Mark Caulfield, Chief Scientist at Genomics England.

A number of other countries are running similar projects in various stages of completion, for example Genomics Medicine Ireland recently announced it plans to sequence 400,000 Irish genomes in collaboration with WuXi NextCODE.

Images via Shutterstock

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