New £105 million scheme aims to speed up diagnosis of rare genetic diseases in newborns

Thousands of babies born each year with treatable rare genetic diseases could gain faster access to treatment if a new genomic sequencing research program proves successful.

Genomics England will sequence the genomes of 100,000 newborn children – which involves the study of people’s DNA – for rare conditions, after the government has provided £105 million in funding for the research, it was announced on Tuesday.

The newborn program will assess the feasibility and effectiveness of using whole genome sequencing to diagnose hundreds of genetic diseases that affect thousands of newborn babies each year.

This will speed up diagnosis and access to treatment, said Genomics England, a company owned by the Department of Health & Social Care (DHSC).

It’s part of a £175 million “advanced genomics research” incentive announced by DHSC on Tuesday, with £26 million also allocated to a program aimed at improving the accuracy and speed of cancer diagnoses.

The newborn screening initiative will only focus on conditions that affect children from birth to age five and are feasible, Genomics England said.

It is voluntary and will be performed in addition to the current heel prick test, which draws blood from a newborn to test for nine rare conditions.

In contrast, the use of whole genomic sequencing will enable the identification and diagnosis of more than 200 disorders, it added.

It is estimated that around 3,000 children are born each year in the UK who could be helped if the new approach is adopted nationally.

It will begin next year and will collect evidence to consider rolling it out across the country, DHSC added.

Dr. Rich Scott, chief medical officer for Genomics England, said: “Our aim in the Newborn Genomes Program is to do more for the thousands of children born each year in the UK with a treatable genetic condition.



We want to be able to say to parents that we have done our best to identify and do something about these life-altering diseases in time before the damage these conditions can cause is done

Dr Rich Scott

“We want to provide rapid diagnosis, faster access to treatment and better outcomes and quality of life.

“We want to be able to say to parents that we have done our best to identify and do something about these life-altering diseases in time before the damage these conditions can cause is done.

“Generating this evidence will help policymakers make informed decisions about whether and how whole genome sequencing can be rolled out as part of a future newborn screening program.”

Health Secretary Steve Barclay said: “The NHS is a world leader in genomics and by investing in this cutting-edge research we are strengthening our status as a superpower in the life sciences.”

But Professor Frances Flinter, Emeritus Professor of Clinical Genetics, Guy’s & St Thomas’ NHS Foundation Trust, said: “Using whole genome sequencing to screen newborns is a step into the unknown.

“It will be crucial to get the balance between benefit and harm right.

“We shouldn’t be racing to use this technology until both science and ethics are ready.”

A public consultation by Genomics England found general support for the use of genomics in newborn screening, provided the right safeguards are in place, DHSC said.

Genomics England has engaged extensively with the public, parents, rare disease families, and healthcare professionals and scientists to navigate the scientific, clinical, ethical and societal issues posed by newborn genome sequencing, it added up to it.

On Tuesday, DHSC also unveiled £26 million funding for a cancer programme, led by Genomics England in partnership with the NHS.

It will evaluate genomic sequencing technology to improve the accuracy and speed of diagnosis for cancer patients and use artificial intelligence to analyze a person’s DNA, among other information such as routine scans.

It has also committed £22 million to another Genomics England-led programme, to sequence the genomes of up to 25,000 research participants of non-European descent who are currently under-represented in genomic research.

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