An individual’s whole genome is a combination of around 3,000,000,000 letters (A,T,C and Gs). The whole genome can now be sequenced with the speed and budget that was needed for a single gene (around 5,000 letters) around 10 years ago.
However, on average there are 6 million variations between any two healthy individuals, so full genome sequencing of patients with cancer or rare diseases creates a needle-in-haystack situation. How do you spot what matters?
One approach is to start with a smaller haystack. The bits of our genome that code for proteins are collectively known as the exome. The exome takes up only 2% of the genome, but most of the clinically relevant changes occur here.
Traditional techniques allowed genes to be sequenced one at a time. Next Generation Sequencing (NGS) allows several thousand genes from the exome to be sequenced at once, and by sequencing this small proportion of the genome we can find a high proportion of clinically relevant changes without sifting through 6 million non-relevant background changes.
Wessex AHSN has supported the installation and implementation of NGS equipment in Southampton. This represents a major investment in technology, training and service transformation, but should allow a huge step forward in providing a genomics medicine service across Wessex.
The pilot project for this work is completed and the service is currently undergoing accreditation before mainstream clinical use is initiated.
Wessex Genomic Medicine Centre (GMC): Ilona's story
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