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Genomics England receives government funding for cutting-edge genomics research

£105m will be used to accelerate the diagnosis of rare genetic diseases in newborns


Genomics England will lead three initiatives aiming to advance the delivery of genomic healthcare to patients, following the announcement of a £175m funding boost from the UK Government.

The funding, which is part of a three-year plan to accelerate new technologies across the UK health and care system and life sciences sector, could allow children born with treatable rare genetic diseases and patients with cancer to benefit from earlier diagnosis and faster access to treatment.

Two of the initiatives will be conducted in partnership with the NHS, including a research study exploring the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies, as well as an innovative cancer programme evaluating genomic sequencing technology to improve the accuracy and speed of diagnosis for cancer patients.

A Genomics England-led programme will also involve the sequencing of 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.

Thousands of children are born in the UK every year with a treatable rare condition that could be detected using genome sequencing.

Currently, the 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 cystic fibrosis and sickle cell disease.

However, screening a baby’s entire genome alongside the current heel prick could detect hundreds more rare, treatable diseases in their first years of life.

"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,” said health and social care secretary Steve Barclay, who announced the funding.

The Newborn Genomes Programme will also 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.

Dr Rich Scott, chief medical officer for Genomics England, said: “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.”

Article by
Emily Kimber

15th December 2022

From: Research



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