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Exciting Future for UK Life Sciences as 100,000 Genomes Project Completes

on Monday, 14 January 2019.

Genomics England's 100,000 Genomes project has reached its goal - making it the world's largest gene sequencing project in healthcare, and bringing hope of better understanding of diseases and faster diagnosis.

Sequencing genomes is aimed at leading to a more rapid diagnosis, improving the prevention of illness and creating more targeted and personalised medicines.

People with rare diseases, their family members and cancer patients took part in this project. One quarter of the participants in the project have now had a diagnosis for their rare diseases for the first time. Understanding people's genomes will also lead to more effective and also cost-effective treatment for each person, as more is known about each person's genome and how they will respond to medical treatment.

Genomics England was set up in 2013 to undertake the project. David Cameron, the Prime Minister at the time, had a vision to make the UK as a world leader in this area, and the success of the 100,000 Genomes Project achieves that.

Professor Mark Caulfield, Chief Scientist at Genomics England, commented: "The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS."

Sir John Chisholm, Chair of Genomics England, said: "Your health record will eventually have a genomic backbone to it; that will enable what is happening to you to be compared with what your genome is telling your doctor, and therefore a more accurate diagnosis or treatment will be available."

Genomics has come a long way since the first human genome was sequenced in 2003 - when it had taken 13 years and cost £2bn. Now, a genome's whole DNA can be sequenced in just half an hour, costing only £600.

Genomics England now wants to go even further and sequence one million genomes in the next five years.

Genomics England and NHS England have thanked the 85,000 participants, 1,500 NHS staff, 3,000 researchers, the National Institute for Health Research and the UK Government for their support and funding in the programme. The project has seen the UK become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.


Many people are concerned about the UK's place in the world post-Brexit. What better example of how this country can shine than with this ambitious and exciting project that really leads the way? Genomics and personalised medicine are the future, and the UK is at the forefront of it.

Do you have any thoughts on this development? What do you think can be achieved through genomics? Please share your thoughts with Paul Gershlick in our Pharmaceuticals and Life Sciences team on 01923 919 320.

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