UK leads the world as 100,000 Genomes Project hits the 50,000 genomes landmark to transform NHS patient care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

It is a milestone that sets the UK on track to fully realise the potential of genomic medicine, deliver better care for patients and establish the UK as the global ‘go to’ destination in the fast emerging genomics sector.

Genomics England was established in 2013 as a wholly owned company of the Department of Health and Social Care by the Secretary of State, Jeremy Hunt. It is tasked with the delivery of the groundbreaking 100,000 Genomes Project, which is sequencing 100,000 genomes from 70,000 people, focused on patients with rare diseases, their families, and patients with cancer.

In stimulating genomic research and discovery, Genomics England aims to improve patient care and establish the UK as the centre of the global genomics industry.

Achieving the 50,000 genomes landmark has only been made possible through the generous participation of tens of thousands of patients and their families – taking part in a Project at the edge of known science. Staff in NHS Genomic Medicine Centres (GMCs), as well as those in Northern Ireland, Scotland and Wales, have worked tirelessly to not only deliver the Project, but in many cases, also pioneered totally new systems, processes and procedures to ensure that genomic medicine can become part of routine NHS care.

The project is already changing the lives of patients with a rare disease – often providing diagnoses for the first time after years of uncertainty and distress (known as the diagnostic odyssey), as well as working towards reducing costs to health and social care budgets. In cancer, significant progress has been made in tackling the global challenge of extracting of DNA of sufficient quality for whole genome sequencing – leading to significant redesign of tissue handling in the NHS.

The scope and scale of the 100,000 Genomes Project, unparalleled anywhere else in the world, has been made possible through the UK’s unique asset − its National Health Service. The NHS, as the single biggest integrated healthcare system in the world, is able to link lifelong healthcare information with whole genome sequencing data. It is a combination that brings benefit to patients whilst also demonstrating the UK’s competitive advantage in enhancing understanding of diseases, and developing products for earlier detection and treatment.

Health Secretary Jeremy Hunt said:

“This incredible achievement shows once again why the UK is a world leader in genomic medicine.
“We’re backing our world-leading scientists and clinicians in the NHS to push the boundaries of modern science and embrace new technology – using data to transform the lives of patients and families through quicker diagnoses and personalised treatments.
“It is testimony to the hard work of the clinicians and scientists across the NHS and volunteers for the project that we can continue to harness the very best of the NHS and remain at the forefront of this pioneering field.”

Genomics England Executive Chair, Sir John Chisholm, said:

The 100,000 Genomes Project was a stunningly ambitious project when announced by the (then) Department of Health five years ago. Since then Genomics England and NHS England (now joined by Scotland, Northern, Ireland and Wales), working with a huge number of ground-breaking partnerships, have built the infrastructure and protocols to deliver health-enhancing diagnostics from consented patients with undiagnosed rare genetic disease and common cancers, while at the same time enabling their data (in de-identified form) to provide the basis for research leading to improved therapies and treatments. Having built the platform and reached the 50,000 halfway point we are now able to operate at a scale to complete the target by the end of 2018.

Professor Sue Hill OBE, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:

This is an important milestone for the project and has only been possible because of the contribution and commitment of the participants in the project and their families.
“The milestone also marks how healthcare professionals from across the NHS have come together to transform care for the future, demonstrating how this technology can be utilised as part of routine care to improve patient lives and keep the NHS a world-leader in this important area of medicine. Working together patients and professionals have achieved so much and I would like to say a personal thank you to each and every one for playing their part.
“We are on track to complete recruitment to the Project this Autumn and, from then, the use of these cutting-edge genomic technologies will be embedded in the NHS through the new Genomic Medicine Service offering real benefits to patients and healthcare delivery.

Francis deSouza, President and CEO of lllumina (the 100,000 Genomes Project’s sequencing partner), said:

This important milestone in our partnership with Genomics England marks a significant step towards delivering whole genome sequencing at scale into the NHS and provides physicians with the data to make diagnoses based on a patient’s genome that will lead to better health outcomes.