NHS England to screen 100,000 babies for genetic conditions including Pompe

NHS England to screen 100,000 babies for genetic conditions including Pompe

Posted On: 10/10/2024

Pompe is one of the 200 rare genetic conditions that will be screened for in the new NHS Newborn Screening program. 100,000 babies will be screened by NHS England.

The Generation Study is a research study being run by Genomics England in partnership with NHS England. It will investigate whether whole genome sequencing can be used as a screening tool to screen newborn babies for a larger number of childhood-onset genetic conditions than are currently screened for through the NHS.

The Study will sequence and analyse the genomes of 100,000 newborn babies in England to look for certain treatable genetic conditions.

NHS screening currently only looks for 9 (10 in certain regions) conditions, rather than screening the baby’s genome. This study will screen around 200 diseases in a single test, enabling a new screening platform which will be expandable to even more conditions.

The Study also aims to understand how the genomic data of babies could be stored over their lifetime and used for research.

To find out more about the research:
www.generationstudy.co.uk

The Guardian has an article about the study:
NHS England to screen 100,000 babies for more than 200 genetic conditions