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

‘We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life,’ Dr Rich Scott said.
‘We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life,’ Dr Rich Scott said.

Thousands of babies born with treatable rare genetic diseases each year could get faster access to treatment if a new genomic sequencing research programme 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 provided £105million in funding for the research, it was announced on Tuesday.

The Newborn Genomes Programme 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 is part of a £175million boost to “cutting-edge genomics research” announced by DHSC on Tuesday, with £26 million also allocated to a programme aimed at improving the accuracy and speed of cancer diagnoses.

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

It will be voluntary and run alongside the current heel prick test – which involves taking a newborn’s blood sample to test for nine rare conditions.

In contrast, use of whole genomic sequencing will allow for the identification and diagnosis of more than 200 conditions, it added.

Across these, it estimates there are approximately 3,000 children born every year in the UK who could be helped if the new approach is adopted nationally.

It will start next year and will gather evidence to consider whether this could be rolled out across the country, DHSC added.

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 offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life.

“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.”

Health Secretary Steve Barclay said: “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.”

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

“Getting the balance of benefit and harm right will be crucial.

Health workers strikes
Health Secretary Steve Barclay (James Manning/PA)

“We must not race to use this technology before both the science and ethics are ready.”

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

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, it added.

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 analyse a person’s DNA, alongside other information such as routine scans.

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