• £105 million to speed up diagnosis of rare genetic diseases in newborns, potentially resulting in life-saving interventions for thousands of babies
• Additional funding to kickstart programmes to help improve the accuracy and speed of cancer diagnosis and tackle health inequalities
• Part of new three-year plan to roll out new technologies across the health and care system, bolstering the UK’s position as a life sciences superpower

Patients with cancer and children born with treatable rare genetic diseases are set to benefit from earlier diagnosis and faster access to treatment, following a £175 million boost to cutting-edge genomics research announced by the Health and Social Care Secretary.
The funding will enable research which could deliver world-leading genomic healthcare to patients, which involves the study of people’s DNA. The boost is part of a new three-year plan to develop, evaluate and roll out new technologies across the health and care system and life sciences sector, bolstering the UK’s position as a life sciences superpower. This includes:

• £105 million to kickstart a world-leading research study, led by Genomics England in partnership with the NHS, to explore the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies. For example, rare genetic thyroid hormone conditions, which are not detectable by the routine NHS heel prick test, and can cause developmental and learning difficulties and longer-term health complications without treatment. The study will sequence the genomes of 100,000 babies over the course of the study – which will begin in 2023 - and will gather evidence to consider whether this could be rolled out across the country.
• An initial £26 million to support an innovative cancer programme, led by Genomics England in partnership with the NHS, to evaluate cutting-edge genomic sequencing technology to improve the accuracy and speed of diagnosis for cancer patients and use artificial intelligence to analyse a person’s DNA, alongside other information such as routine scans.
• £22 million for a programme, led by Genomics England, to sequence the genomes of up to 25,000 research participants of non-European ancestry, are currently under-represented in genomic research to improve our understanding of DNA and its impact on health outcomes. This will help reduce health inequalities and level up patient outcomes across all communities.

The government has also today announced up to £25 million of UKRI-MRC funding for a UK wide new initiative on functional genomics, an area of genomic research which uses molecular tools such as gene editing to improve understanding of how genetic variation leads to disease and support smarter diagnostics and the discovery of new treatments. The Life Sciences Vision set out in 2021 commits to delivering a world-class offer on functional genomics and the UK is in a strong position to become a leader in this area.

These announcements will build on the world-leading work of the NHS Genomic Medicine Service.

Health and Social Care Secretary Steve Barclay said:

“We’ve made advancements in so many areas to improve people’s health – from ensuring ground-breaking new medicines get to patients faster to bolstering the NHS workforce to ensure we have record numbers - and this plan, backed by £175 million, sets out how we will use the latest genomic technology to go further.

“The potential for genomics to revolutionise the way we deliver health care is great – if we can detect treatable illnesses earlier and ensure patients access potentially lifesaving treatment faster, we could improve people’s lives across the county, including thousands of babies through this new pilot.

“The NHS is a world leader in genomics and by investing in this cutting-edge research we’re cementing our status as a life sciences superpower.”

Thousands of children are born in the UK every year with a treatable rare condition that could be detected using genome sequencing. Most rare disorders are genetic and children under the age of five are disproportionately affected. Whilst these conditions are often difficult to identify, genomic testing has already become the main way of providing a diagnosis.

The current NHS heel prick blood test carried out as part of newborn screening is used to detect nine rare but serious health conditions in babies, including sickle cell disease and cystic fibrosis. However, screening a baby’s entire genome – all of their DNA – alongside the current heel prick could detect hundreds more rare, treatable diseases in their first years of life. For many of these illnesses early and effective intervention is crucial for helping these children live healthier lives.

The Newborn Genomes Programme will support vital healthcare research to enable better diagnostics and treatments to be developed and explore the potential benefits of safely and securely storing a patient’s genome on record to help predict, diagnose and treat future illnesses through their lifetime. For example, if a child who has had their genome sequenced falls sick when they are older, such as developing cancer, there may be an opportunity to use their stored genetic information to help diagnose and treat them.

A public consultation by Genomics England has shown overall support for the use of genomics in newborn screening, providing the right safeguards are in place. Genomics England engaged widely with the public, parents, families with rare disease, and healthcare professionals and scientists to navigate the scientific, clinical, ethical, and societal issues that newborn genome sequencing presents.

Minister for Health, Will Quince, said:

“Genomics is changing the future of healthcare and this plan is a crucial next step in delivering our vision to create the most advanced genomic healthcare system in the world.

“Genomic sequencing can speed up diagnosis of cancer, ensure children with treatable illnesses receive treatment faster and improve our understanding around how health outcomes differ by ethnicity.

“The UK continues to lead the way in genomics expertise, and this pioneering plan will save lives and ensure we are delivering better health outcomes at lower costs.”

Alongside this, as part of their innovative cancer programme, Genomics England will partner with NHSE England (NHSE) to test new genomic sequencing technology for faster, more accurate cancer diagnosis. Working with NHSE and the National Pathology Imaging Co-operative (NPIC), Genomics England will also combine imaging, genomic, and clinical data to better diagnose and predict the progress of a patient’s cancer.

To overcome the lack of diversity within genomic data, Genomics England will expand a range of programmes to build trusting relationships with traditionally excluded groups of people, such as patients with sickle cell disease who are unrepresented in research studies, alongside developing tools to enable doctors and researchers to better interpret genetic variations and make more informed decisions about patient care. This will help tackle health inequalities and improve patient outcomes within genomic medicine.

Business Secretary Grant Shapps said:

“From cancer treatment and diabetes research to increasing our understanding of rare and undiagnosed diseases, genomic medicine is already transforming lives and helping to create new treatments for all kinds of conditions.

“Outstanding progress is being made across the UK, and this £175m plan sets out how we will use the latest genomic technology to go even further, leveraging the might of our excellent NHS and top researchers to lead the world in using genomics for healthcare, boost growth by supporting high quality jobs, and cement our position as a global science superpower.”

NHS England National Medical Director Professor Sir Stephen Powis said:

“The NHS is a world-leader in genomic medicine, and through the NHS Genomic Medicine Service we are already transforming the lives of thousands of patients with cancer and rare diseases by harnessing the latest technologies to deliver faster and more accurate diagnoses, more effective treatments and predicting and preventing certain conditions.

“This project has the potential to provide yet more powerful tools for NHS teams as they work to save lives and improve life chances for patients, alongside the testing and treatment options that the genomics programme has already provided.”

As set out in the government’s genomic healthcare strategy, Genome UK, the ambition is to create the most advanced genomic healthcare system in the world. This will be underpinned by the latest scientific advances and engagement with patients and the public, developing the genomics workforce and supporting industrial growth. This will deliver better health outcomes at lower cost alongside commitments to enable more rapid diagnosis.

This comes as the government announced £113 million of funding last month for innovative research into cutting-edge new treatments including cancer immune therapies or vaccines and game-changing weight loss medication and technologies, to accelerate their development and rollout as part of the Life Sciences Vision.

Professor Lucy Chappell, Chief Scientific Advisor to DHSC and CEO of the NIHR , said:

“In Genome UK the government set out its ambition to create the most advanced genomic healthcare system in the world. It is therefore crucial that we evaluate new genomic technologies in a robust way so that the public and clinicians can have confidence in how they are used. I therefore welcome the investment in this Implementation Plan to explore whether new approaches such as whole genome sequencing of newborns are effective, safe and acceptable to parents. These developments have the potential to transform healthcare. The Plan is a great example of the whole genomics ecosystem, including our NIHR delivery partners, coming together to achieve our goals in this exciting area of medicine.”

Dr Rich Scott, Chief Medical Officer for Genomics England, said:

“This continued investment in genomics means that the country is well placed to remain at the forefront and for us to be able to offer the best clinical care for patients.

Our goal in the Newborn Genomes Programme is to do more for the thousands of children born every year in the UK with a treatable genetic condition. We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life. We want to be able to say to parents that we’ve done the best we can to identify and do something about these life-changing illnesses, in a timely way before the damage these conditions can cause has been done. Generating this evidence will allow policymakers to make well informed decisions on whether and how whole genome sequencing could be rolled out as part of a future newborn screening programme.

“With the pace of change of knowledge and the emergence of new technologies, it's crucial that we continue to learn. That's why our programme will also support research to improve diagnosis and treatment of genomic conditions and into the potential future healthcare uses of genomic data. It’s also why we will explore public preferences for how we might support these uses in the future if newborn genome sequencing became routinely offered.”

Professor John Iredale, Executive Chair of the Medical Research Council, said:

“MRC is delighted to be leading this £25m initiative in functional genomics. This exciting area of research allows us to build on the rich genomic work in UK flagship initiatives supported by MRC, such as the MRC Human Genetics Unit, Genomics England and UK Biobank, to drive a better understanding of how genes cause disease by linking genetic variation to physiological function. This will lead to breakthroughs in our understanding of disease and ultimately support the discovery and development of the next generation of diagnostics, medicines and vaccines.”

ABPI’s director of research policy, Dr Jennifer Harris said:

“This plan is a big step forward in delivering on the government and industry’s shared commitment to fully harness the power of genetic medicine to transform care for patients. It gives a much-needed boost to research and expands the opportunities for patients to take part in clinical trials, building on the recommendations of our report on genomics earlier this year.

“It is essential UK patients get better access to genetic testing and genomic medicines through the NHS, and that Genome UK is fully implemented across the UK. The industry will continue to work with government and system partners to deliver these plans, and ultimately, realise the ambitions of the Life Sciences Vision by ensuring people across the country feel the benefits of the UK’s leadership in genomics.”

Steve Bates, CEO of the Bioindustry Association, said:

“England’s Genome UK implementation plan sets out key investments that will help make the UK the best place to start and scale new genomics companies. This is vital to allow the UK’s thriving ecosystem of genomics SMEs to flourish and benefit patients.

“The commitment to a world class functional genomics initiative, developed in partnership with industry, will help maintain the UK’s global position. Improving SMEs’ access to high-quality genomics data through expanding existing initiatives, as well as through Genomics England’s new diverse data programme, will also support the development of cutting-edge UK innovation.

“The UK BioIndustry Association welcomes the implementation plan and is looking forward to working with government and delivery partners on industry engagement and participation. Capturing metrics on SME engagement and support will be key to knowing if the plan has been a success.”