Human genome: UK to become world number 1 in DNA testing
The UK is set to become the world leader in ground-breaking
genetic research into cancer and rare diseases, which will
transform how diseases are diagnosed and treated, thanks to a
package of investment worth more than £300 million, the Prime
Minister has announced.
The 4 year project will allow scientists to do pioneering new
research to decode 100,000 human genomes - a patient's personal DNA
code. The landmark project is on a scale not seen anywhere else in
It is part of the Prime Minister's commitment to ensure the NHS
as well as the UK's research and life science sector is at the
forefront of global advances in modern medicine.
Sequencing the genome of a person with cancer or someone with a
rare disease will help scientists and doctors understand how
disease works. The project has the potential to transform the
future of health care, with new and better tests, drugs and
treatment. It is expected to provide a lifeline to thousands of
families affected by rare genetic diseases and cancers.
The Prime Minister has pledged that the UK will map 100,000
human genomes by 2017.
Now, as world leading research organisations join forces, the
100,000 Genomes Project has reached a major milestone in a package
of new investment.
The Prime Minister is today unveiling a new partnership
between Genomics England and
the company Illumina that will deliver
infrastructure and expertise to turn the plan into reality. As part
of this, Illumina's services for whole genome sequencing have been
secured in a deal worth around £78 million.
In turn, Illumina will invest around £162 million into the work
in England over 4 years, creating new knowledge and jobs in the
field of genome sequencing. The investment will not only help the
life science industry to thrive, but potentially create
opportunities for talented UK scientists to lead the world. It will
also pave the way for all NHS patients to eventually benefit from
this exciting new technology.
This research puts the NHS at the forefront of scientific
discovery. This is in line with the Prime Minister's vision for the
NHS to be the first mainstream health service in the world to offer
genomic medicine as part of routine care.
Prime Minister David Cameron said:
This agreement will see the UK lead the world in genetic
research within years. I am determined to do all I can to support
the health and scientific sector to unlock the power of DNA,
turning an important scientific breakthrough into something that
will help deliver better tests, better drugs and above all better
care for patients.
As our plan becomes a reality, I believe we
will be able to transform how devastating diseases are diagnosed
and treated in the NHS and across the world, while supporting our
best scientists and life science businesses to discover the next
wonder drug or breakthrough technology.
Trust has invested more than £1 billion in genomic research and
has agreed to spend £27 million on a world class sequencing hub at
its Genome Campus near Cambridge. This will house Genomics
England's operations alongside those of the internationally
respected Sanger Institute.
The agreement will place Genomics England at the heart of one of
the world's most vibrant genomic science and technology clusters,
and allow scientists to work with world-class researchers from the
Sanger Institute, the European Bioinformatics Institute, and
biotechnology companies based on the same site.
The Medical Research Council has also earmarked £24 million to
help provide the computing power to make sure that the data of
participants will be properly analysed, interpreted and made
available to doctors and researchers securely.
NHS England has started the process of selecting the first NHS
Genomics Medicine Centres. Successful centres will help to progress
this ambitious project by inviting cancer and rare disease patients
to take part to have their genome sequenced. NHS England has agreed
to underwrite an NHS contribution of up to £20 million over the
life of the project.
The cash injection - and new partnerships - will mean excellent
progress can be made on the 100,000 Genomes Project. It is expected
that around 40,000 NHS patients could benefit directly from the
research. Ultimately this work will pave the way for genomics-based
medicine to become part of everyday practice throughout the
Participation in the project will be based on consent, and
people's data will be strictly protected through Genomics England's
secure data services.
Life Sciences Minister George Freeman said:
"Genomics England's ground breaking partnership with Illumina
confirms Britain's position as a world leader in the field of
genetic medicine. This project will help us map genomes on an
unprecedented scale and bring better treatments to people with
cancers and rare diseases for generations to come.
"This project is also very important for the
economy and the development of life sciences in this country -
including creating valuable jobs in Cambridge and beyond."
Sir John Chisholm, Executive Chair of Genomics England said:
"This is a real milestone in turning this
ambitious project into what we always intended which is a world
leading project capable of delivering immense benefit to current
and future patients."
Jay Flatley, CEO of Illumina said:
"This is a momentous day for the UK to push the boundaries of
medical science and create the first comprehensive national program
for genomic healthcare.
"Illumina is committed to partnering with
Genomics England as they look to implement vital changes in the way
healthcare is practiced. This project confirms the UK as a leader
in the global race to implement genomic technology and create a
lasting legacy for patients, the NHS and the UK economy."
Jeremy Farrar, Director of the Wellcome Trust, said:
"Understanding humanity's genetic code is not only going to be
fundamental to the medicine of the future. It is an essential part
of medicine today. In rare congenital diseases, in cancer and in
infections, genomic insights are already transforming diagnosis and
"The Wellcome Trust has invested more than £1
billion in genome research that has built this understanding,
including pivotal contributions to the Human Genome Project, the
world-leading science of the Sanger Institute, and critical work in
global health, medical ethics and public engagement. Genomics
England will further exploit this knowledge for medical advances
that help patients, within a robust ethical framework that relies
on their informed consent, so supporting its efforts is a logical
next step. We will be proud to host its sequencing hub alongside
Sanger's at our Hinxton genome campus, and to fund researchers who
use its data to investigate disease."
Simon Stevens, NHS England's Chief Executive said:
"The NHS is now set to become one of the world's 'go-to' health
services for the development of innovative genomic tests and
patient treatments, building on our long track record as the nation
that brought humanity antibiotics, vaccines, modern nursing, hip
replacements, IVF, CT scanners, and breakthrough discoveries from
the circulation of blood to the existence of DNA.
"The NHS' comparative advantage in unlocking
patient benefits from the new genomic revolution stems from our
unique combination of a large and diverse population, with
universal access to care, multi-year data that spans care settings,
world-class medicine and science, and an NHS funding system that
enables upstream investment in prevention and new ways of working,
as demonstrated by this ground-breaking 100,000 Genomes
Genetic disorders and
Rare diseases are uncommon but there are between 5,000 to 8,000
known genetic disorders. Around 3 million people are affected by
them, half of these are children.
When the Human Genome Project was undertaken in the early 1990s,
it took 13 years and over £2 billion to sequence the first whole
human genome. But now with advances in technology, the speed and
cost of sequencing a human genome has fallen dramatically.
Our understanding of how to use this information has also
increased. We still have a lot to learn, but these advances have
opened up the potential use of genomics medicine within mainstream
Genomics England is a wholly owned by the Department of Health.
It was set up to deliver the 100,000 Genomes Project. This flagship
project will sequence 100,000 whole genomes from NHS patients by
Genomics England has 4 main aims:
- to bring benefit to patients
- to create an ethical and transparent programme based on
- to enable new scientific discovery and medical insights
- to kickstart the development of a UK genomics industry
The project is focusing on patients with rare diseases, and
their families, as well as patients with common cancers. The
project is currently in its pilot phase and the main project begins