1,000th milestone

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A specialist NHS centre - helping to transform future care for rare diseases and cancer patients through the sequencing of a whole genome, or the full blueprint of a person’s DNA - has recruited its 1,000th participant, just 16 months after becoming operational.

Yorkshire and Humber NHS Genomic Medicine Centre is one of 13 centre set up by NHS England, and is led by Sheffield Teaching Hospitals NHS Foundation Trust in collaboration with Sheffield Children’s NHS Foundation Trust.

Up until recently, determining the sequence of a genome – which contains 3 billion pairs of letters and holds the instructions of the four chemical building blocks that make up the DNA molecule – was a slow and costly process, taking an average of 13 years and costing £2 billion. Thanks to the invention of large-scale automatic sequencing machines, this process can now be undertaken in 2 days at a cost of £1,000

In Yorkshire and Humber, the team are recruiting participants with rare diseases and certain types of cancer, so that their DNA samples and cancer tumour samples can be sequenced as part of the national initiative.