Babies genes will be screened at birth in a medical first

100,000 babies in England are set to have their genomes sequenced in a £105m research programme that could pave the way for a full-scale screening plan to detect rare genetic conditions.

The Newborn Genomes Programme aims to read all the DNA carried out by a representative national sample of babies shortly after they are born. The project is able to sequence DNA and will look for around 200 disorders.

sleeping baby on white textile

Launched by Genomes England, a government-owned company, the two-year project will be carried out in partnership with the NHS and will begin late next year.

The Genomics England project is one of eight newborn sequencing studies being conducted globally, but the majority are on a smaller scale.

As it stands, a heel prick blood test is offered to new-born babies which screens for nine rare conditions, including cystic fibrosis and sickle cell disease.

However, commenting on the progress, Dr Rich Scott, Chief Medical Officer for Genomics England, said: ‘Our goal is to do more for the thousands of children born every year in the UK with a treatable condition.

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

The project is the first time that the whole genome sequencing has been offered to healthy babies in the NHS in England. It is estimated that Scotland, Wales and Northern Ireland may join the process at a later date.

Currently there are at least 7000 single gene disorders, most of which develop during the early stages of childhood.

‘We estimate that there are approximately 3,000 children born a year in the UK who could be helped by this approach if adopted nationally’, said Dr Scott.

David Brick, Principal Clinician for the Newborn Genomes Programme, said: ‘The genetic variants we are choosing are well established as causing serious childhood conditions that benefit from early detection and treatment.’

As well as striving to help families with newborns, NHS trusts across England will be selecting participants with a focus on achieving ethnic diversity, which has often been lacking in previous medical research projects.

Photo by Hu Chen


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