NHS will sequence genomes of 100,000 newborns in England
Genomics England and the NHS have started the Generation Study, which will sequence the genomes of 100,000 babies born in hospitals across England. The study will test for changes in genes linked to more than 200 rare conditions. With parental consent, the genomes and health data will be stored in the National Genomic Research Library, where approved researchers can access the de-identified information. The study was developed after consultation with parents, families affected by rare conditions, healthcare professionals, policy makers and scientists. It aims to determine whether whole genome sequencing can screen for a larger number of treatable rare conditions and speed up diagnosis and access to care.
The results will inform future NHS decisions on whether to use whole genome sequencing for newborn screening to accelerate diagnosis and treatment of rare genetic conditions.
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].