Join the club for FREE to access the whole archive and other member benefits.

NHS to sequence the entire DNA of newborns for rare genetic disease diagnosis

Whole genome sequencing could speed up diagnosis and allow early life-saving treatment

13-Dec-2022

Key points from article :

Rare genetic disorders will be diagnosed and treated in babies using whole genome sequencing (WGS).

The project is the first time to sequence the complete DNA and has been offered to healthy babies in the NHS.

It will screen for around 200 disorders, all of them treatable.

The Newborn Genomes Programme is expected to roll out across the country if successful.

Genomics England estimate that the project will identify 100s of children with genetic disorders that would otherwise have been missed.

Currently, a heel prick blood test screens for 9 rare conditions, including cystic fibrosis and sickle cell disease.

Rich Scott, Chief Medical Officer for Genomics England, said: "We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life."

WGS may also identify conditions that occur only later in life, such as some cancers.

Having access to genetic data later in life could improve treatment for some conditions and avoid harmful drug interactions.

Mentioned in this article:

Click on resource name for more details.

Genomics England

Genomics England was set up to deliver the 100,000 Genomes Project

Richard Scott

Chief Medical Officer and Deputy CEO at Genomics England

Topics mentioned on this page:
DNA Testing, Screening Programme
NHS to sequence the entire DNA of newborns for rare genetic disease diagnosis