Genome sequencing trial to test benefits of identifying genetic diseases at birth

Heel-prick tests are currently offered for newborn babies to screen their blood for nine serious conditions, but hundreds more could be diagnosed at birth through whole genome sequencing. Photograph: David Gee/Alamy

Genomics England is to test whether sequencing babies’ genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment.

The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it.