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The 100k Genome Project

SWLP’s Cellular Pathology dept are part of the ground-breaking 100k Genome Project. The Genome Project aims to establish the UK as a world leader in genetic research and to transform patient care using genetic information.

The national 100k Genomes Project will focus on rare genetic diseases (80%) and cancer (20%) and will enable pioneering research to decode 100,000 human genomes, a scale not seen anywhere else in the world.

The project has the potential to transform the future of healthcare. It could improve the prediction and prevention of disease, enable new and more precise diagnostic tests, and allow personalisation of drugs and other treatments.

Genomic Medical Centres
Across England there are 13 Genomic Medical Centres and SWLP is part of the South London NHS Genomic Medicine Centre, working with Kings College, and Guy’s and St Thomas’ Hospitals.

The cellular pathology departments at all the hospital trusts are working with genetics and clinical teams in relation to recruiting suitable patients with tumours to the programme, for collecting blood and tumour samples and for extracting DNA from relevant samples.

The St George’s clinical lead for the 100k genome cancer project is Dr Ruth Pettengell, based at St George’s University. The lead pathologist for SWLP is Dr Colan Ho-Yen with Samantha Matthews as technical lead in cellular pathology.

Current progress:

Nationally – medical centres have been working on protocols for tissue processing and, working in parallel, a developmental group has identified fresh frozen tissue as the way ahead.

Locally – IT leads in SWLP and the Genetics dept at St George’s have been working with colleagues at Guy’s Hospital to ensure accurate data upload onto the national database. The internal process for tissue handling have also been agreed and approved by Genomics England. Having had several dry runs to ensure the process works, the good news is that we are now ready for our first patient recruit.

For more information watch the Youtube videos below about the 100k Genome project and genomics in healthcare

http://www.youtube.com/watch?feature=player_embedded&v=gW6CUCYw7Vs

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