Overview

• Up to 100,000 newborns in England will be screened for genetic conditions through a new NHS initiative led by Genomics England.
• The Generation Study aims to provide early diagnosis and treatment for conditions like metachromatic leukodystrophy (MLD), potentially saving lives.
• More than 500 newborns have already been tested across 13 NHS hospitals, with plans to expand to 40 hospitals.
• Parents are informed about the study during pregnancy, and consent is confirmed post-birth before blood samples are taken for sequencing.
• The study seeks to transform healthcare by making it more predictive, preventative, and personalized, reducing long waits for diagnosis.