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 3-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, 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 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: "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 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 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 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.