GovWire

Press release: Over £175 million for cutting-edge genomics research

Department Of Health

December 13
00:15 2022

  • 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 3-year plan to roll out new technologies across the health and care system, bolstering the UKs 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 today.

The funding will enable research which could deliver world-leading genomic healthcare to patients, which involves the study of peoples DNA. The boost is part of a new 3-year plan to develop, evaluate and roll out new technologies across the health and care system and life sciences sector, bolstering the UKs 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 persons 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, who 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:

Weve made advancements in so many areas to improve peoples 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 healthcare is great if we can detect treatable illnesses earlier and ensure patients access potentially life-saving treatment faster, we could improve peoples 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 were 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 5 are disproportionately affected. While 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 9 rare but serious health conditions in babies, including sickle cell disease and cystic fibrosis. However, screening a babys 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 patients 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 NHS England (NHSE) to test new genomic sequencing technology for faster, more accurate cancer diagnosis. Working with NHSE and the National Pathology Imaging Co-operative, Genomics England will also combine imaging, genomic and clinical data to better diagnose and predict the progress of a patients 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 175 million 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.

NHSE 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 governments 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

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