Genome trial will screen newborns babies to spot disease risks

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Around 100,000 infants will benefit from the £105million scheme that will focus on detecting some 200 genetic conditions. The programme, announced today by NHS bosses, will involve a study of a newborn’s genomes, all of the genes in a human body.

Led by Genomics England and the NHS, the trial will attempt to tackle a wide range of disease risks affecting children under five.

Newborns are currently checked for nine rare conditions, including sickle cell disease and cystic fibrosis, through the heel prick test.

Experts hope the new screening could vastly increase detection of conditions not spotted by the test, which affect around 3,000 children born in the UK each year.

Health Secretary Steve Barclay said the trial could “revolutionise the way we deliver healthcare”.

He said: “If we can detect treatable illnesses earlier and ensure patients access potentially lifesaving treatment faster, we could improve people’s lives across the country, including thousands of babies, through this new pilot.

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.”

Dr Rich Scott, chief medical officer for Genomics England, said: “This continued investment in genomics means that the country is well placed to remain at the forefront, and for us to be able to offer the best clinical care for patients.

“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.”

Professor Sir Stephen Powis, NHS England’s national medical director, said: “This project has the potential to provide yet more powerful tools for NHS teams as they work to save lives and improve life chances for patients, alongside the testing and treatment options that the genomics programme has already provided.”

The newborns of volunteering families will undergo a thorough examination of their DNA – the set of genetic cells found in all human beings.

This allows gene changes that are linked to a disease to be identified even before symptoms appear.

Children could then be offered earlier treatment. The study will gather evidence on the effectiveness and cost of the programme to consider whether the screening should be rolled out nationally.

The Government will also announce £26million of funding for new technology for cancer diagnosis. This will include the use of artificial intelligence to analyse a person’s DNA and improve the accuracy and speed of diagnosis.

A programme to address health inequalities in genome medicine has also been allocated funds totalling £22million.

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