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The NHS in England is the first health care service in the world to carry out whole genome sequencing as a first-line diagnostic blood test.

The North East and North Cumbria NHS Genomic Medicine Centre has successfully enrolled 2,000 rare disease patients and more than 350 cancer patients into this ground-breaking project.

The centre is one of 13 in England, set up in 2015 to deliver the 100,000 Genomes Project on behalf of Genomics England Limited and NHS England.  The lead organisation for the region was Newcastle Hospitals, which is home to the Northern Genetics Service.

The project has paved the way for the new national NHS Genomic Medicine Service, which is expected to go live later this year. 

Most people have heard of genetics, the study of the way particular genetic changes are passed down from one generation to the next. But the more we learn about genes, the more we are beginning to understand that our current understanding of how genes behave – even in the ‘straight-forward’ case of rare inherited diseases – is far more complex than we imagined.

In fact, groups of genes work together and their activity is influenced by a huge variety of environmental and other factors. And it is now known that the DNA between our genes is also very important.

Everyone has a complete set of genes in almost every healthy cell in their body. The complete set of genes - plus the DNA between them - is called the genome. Genomics is not just about the study of the whole genome and how it works but has also come to have a broader meaning to include the way we read the genome and interpret what we find.

Jon Stacey, Project Manager for the Genomic Medicine Centre at Newcastle Hospitals, said: “We are very proud to have achieved this milestone within the 100,000 Genomes project. “

Dr Paul Brennan, Clinical Programme Director for the Project from 2015 to 2018, added: “By using genomics we are able to diagnose patients with rare diseases and cancers more quickly and test family members to see if they have the same genetic disorder. This gives families peace of mind and allows us to monitor and treat those that have inherited the same gene. It’s early days, but genomics is a major focus of the NHS’s Long Term Plan and we should all be proud that we were there at the beginning.”