As the 100,000 Genomes Project has developed, there have been many developments in everyday NHS care, which have helped begin the move to mainstreaming genomics.

This includes the setting up of a biopsy pathway at the West Midlands Genomic Medicine Centre’s (WMGMC) lead organisation, University Hospitals Birmingham NHS Foundation Trust (UHB).

When patients come in for an endoscopy, there is an extra box on their consent form, asking if they are happy to have any samples taken, to be sent for research,

These samples are stored in a newly installed small freezer in the department, before being collected and sent to be sequenced.

By comparing the genetic make-up of patients’ tumours with their own healthy blood, doctors will develop a better understanding of what causes certain cancers, which may also lead to the development of new personalised treatments.

Dr Sheldon Cooper, Consultant Gastroenterologist and Endoscopy CSL, helped to set up the pathway.

“When we are suspicious of a cancer at endoscopy, we send 6-8 tumour samples for rapid review and diagnosis, so taking an extra 2 for the 100,000 Genomes Project has been a simple addition to the cancer pathway.

“I’d like to thank all the endoscopists and nurses here at UHB for helping the pathway run as smoothly as possible.

“The 100,000 Genomes Project has really helped to link everything up. Previously, a lot of research was done in specific research units, but thanks to the project, research is being brought out into clinical areas.”

The 100,000 Genomes Project is the largest of its kind in the world, and aims to analyse and sequence the 3 billion letters that make up an individual’s genome (all their genetic data).

UHB is one of 17 hospitals that form the WMGMC, one of 13 Centres across England helping to sequence 100,000 genomes from 70,000 participants.

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