100,000 newborn babies to have their DNA decoded in hunt for rare diseases

Thousands of babies born with rare genetic diseases each year could get faster access to treatment after a £175m boost to “cutting edge genomic research” was announced.

Genomics England will sequence the genomes of 100,000 newborns – which involves the study of people’s DNA – for rare conditions, after the government provided £105m in funding for the research.

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 £175m boost to “cutting-edge genomics research” announced by DHSC, with £26m 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 treatable, 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.

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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.”

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.

“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.

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