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Millions pledged for newborn genetic testing

The government has announced £105 million in funding to speed up diagnosis of rare genetic diseases in newborns, potentially resulting in life-saving interventions for thousands of babies.

The Newborn Genomes Programme (opens in a new tab) is part of wider plans to fast track cutting-edge genomics research to help boost diagnosis and treatment for patients.

Additional funding is being put in to kickstart programmes to help improve the accuracy and speed of cancer diagnosis and tackle health inequalities.

In total £175 million has been pledged 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.

Baby Imogen a few hours after being born at the Rosie

The Newborn Genomes Programme

This world-leading research study, led by Genomics England in partnership with the NHS, aims to explore the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies.

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

For many of these illnesses early and effective intervention is crucial for helping these children live healthier lives.

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.

Newborn heel prick test
Baby Elodie after her heel prick test at the Rosie, with parents Katherine and Wesley with maternity support worker Nadina Mynott.

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.

This could include rare genetic thyroid hormone conditions which can cause developmental and learning difficulties and longer-term health complications without treatment.

Krishna Chatterjee is a Professor of Endocrinology in the department of medicine at the University of Cambridge and has a special interest in these conditions.

Via the 100, 000 Genomes Project, Professor Chatterjee with a team of experts working in the Institute of Metabolic Science and NIHR Cambridge Clinical Research Facility, diagnosed Resistance to Thyroid Hormone, a genetic form of thyroid underactivity, in a child and have treated him with thyroid hormone, with significant beneficial effect.

This treatment improved many aspects of Owen’s condition, such as his growth and metabolic rate which will help him have the best chance in life.

More information on Owen’s condition and the treatment he was given can be seen here. (opens in a new tab)

Owen Everitt
Owen Everitt with parents Sarah and Rob.

We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life.

Dr Rich Scott, Chief Medical Officer for Genomics England

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

“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 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.”

The Newborn Genomes Programme (opens in a new tab) 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.

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 (opens in a new tab) 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.

This programme is only possible with the agreement and trust of families who choose to take part.

Rebecca Middleton, East Genomics Patient and Public Voice panel representative

Rebecca Middleton is a participant in the 100,000 Genomes Project, Vice Chair of the Participant Panel at Genomics England and a member of the Newborn Genomes Programme steering group.

She added: “We’re committed to ensuring they are at the heart of our decision-making about what the Programme will look like, how they are asked to take part, and how they can make informed choices with the right kinds of information and support at the right time.”

UK as a life sciences superpower

In addition to the The Newborn Genomes Programme, is 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:

  • 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.

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.

Health and Social Care Secretary Steve Barclay

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."

As set out in the government’s genomic healthcare strategy, Genome UK (opens in a new tab), 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 (opens in a new tab) 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.