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Diagnosing Disease - Is Whole Exome Sequencing the Future?

on Thursday, 13 February 2020.

The UK is taking yet another step forward in leading the way in the genomics revolution - this time, whole exome sequencing of sick children with rare diseases.

The NHS is rolling out whole exome sequencing on up to 700 babies and children a year. This technique can rapidly identify gene mutations through a new form of DNA test. This will enhance the chances of accurate and swifter diagnosis, quicker treatment, and preventing patients from having to go through treatment that will not work on them.

What Is Whole Exome Sequencing?

Whole exome sequencing is a genomic technique that sequences all protein-coding regions of genes in a genome (known as the exome). The NHS test looks for mutations in an individual's DNA that provide instructions for making proteins. Unlike other tests that test for specific conditions, exome sequencing is able to identify many life-threatening conditions at once. Without this exome sequencing, patients often have to wait a few months and undergo several tests.

Matt Hancock, making the announcement, called this breakthrough "game changing" for the NHS. It enables more rapid diagnosis of rare disease.

Sir Simon Stevens, Chief Executive of NHS England, hailed this advance: "Once again the NHS is at the forefront of the genomic revolution with patients in England the first to be routinely offered this cutting edge treatment as part of the Long Term Plan."

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Leading the World in Genomics

This new announcement comes on the back of two other recent ones. The first offered whole genome sequencing to children with cancer and rare genetic disorders. The second targeted the genome sequencing of five million babies over the next five years. In 2012, the 100,000 Genomes Project was launched by David Cameron through Genomics England, in memory of the then Prime Minister's son Ivan, who had died in 2009 from a rare condition. The aim was to make the UK the leading pioneers in mapping genomes, to provide more personalised treatments in the future. The Project reached its goal in December 2018. Since then, other genomics projects have been launched in the UK.


The good news just does not stop coming for the UK life sciences industry, and ultimately for patients. The future is personalised care, with genomics at its heart - and the UK is once again taking the lead with yet another exciting genomics project.

At VWV, we are going to hold our annual PING Conference in June on Britain's leading life sciences role in genomics, personalised medicine and artificial intelligence. One of the speakers at our Conference will be Joanne Hackett, Chief Commercial Officer at Genomics England, who will be sharing an update on the Genomics England projects and her vision for the commercial opportunities. Other speakers include leading people in this area at Deloitte, Cell and Gene Therapy Catapult, Benevolent AI, Healx, Congenica and others.

If you have a particular interest in these areas and would be interested in being invited to attend the Conference, please contact Paul Gershlick in our Pharmaceuticals and Life Sciences team on 01923 919 320, or complete the form below.


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