The 100,000 Genomes Project uses whole genome
sequencing technology to improve diagnoses and
treatments for patients with rare inherited diseases
and cancer. It is led by Genomics England and NHS
England.
Since the project was launched in 2012 it has delivered
life-changing results for patients who have had their
genomes sequenced, with 1 in 4 patients with a rare
disease receiving a diagnosis for the first time.
Thirteen NHS Genomic Medicine Centres (GMCs) were
created to support the project, along with a
state-of-the-art sequencing centre and an automated
analytics platform to return genome analyses to the
NHS.
The UK is the first nation in the world to apply whole
genome sequencing at scale in direct healthcare.
Genomics can enable doctors to identify those at risk
of disease, help prevent it and provide personalised
treatments to give patients the best chance of
recovery.
To build on the project’s success, in October the
Secretary of State set out an
ambition to sequence 5 million genomes in the
UK over the next 5 years. The health secretary also
announced the launch of the NHS Genomic
Medicine Service. This will see all seriously ill
children and adults with certain rare diseases or
cancers offered whole genome sequencing as part of
their care from 2019.
Health and Social Care Secretary said:
Sequencing the 100,000th genome is a major milestone
in the route to the healthcare of the future. From
Crick and Watson onwards, Britain has led the world
in this amazing technology. We do so again today as
we map a course to sequencing a million genomes.
Understanding the human code on such a scale is part
of our mission to provide truly personalised care to
help patients live longer, healthier and happier
lives.
I’m incredibly excited about the potential of this
type of technology to unlock the next generation of
treatments, diagnose diseases earlier, save lives and
enable patients to take greater control of their own
health.
Sir John Chisholm, Chair of Genomics England, said:
At launch the 100,000 Genomes Project was a bold
ambition to corral the UK’s renowned skills in
genomic science and combine them with the strengths
of a truly national health service in order to propel
the UK into a global leadership position in
population genomics.
With this announcement, that ambition has been
achieved. The results of this will be felt for many
generations to come as the benefits of genomic
medicine in the UK unfold.
Professor Dame Sue Hill, Chief Scientific Officer for
England and Senior Responsible Officer for Genomics at
NHS England, said:
This achievement has only been possible because of
the amazing commitment and contribution of NHS teams
across the country and I would like to thank each and
every one of them for rising to this challenge and
excelling in its delivery.
The results, which will continue to be returned to
patients, show how genomic medicine can transform
lives, bringing quicker and better diagnoses and
increasing the number of patients surviving cancer,
and the opportunity now is for the NHS to turn this
research into reality by introducing sequencing
technology as part of our world-leading NHS Genomic
Medicine Service.
