The UK has initiated a groundbreaking study where newborns are being screened for over 200 rare genetic conditions. This program, known as the Generation Study, is conducted by Genomics England in partnership with NHS England and aims to sequence the genomes of up to 100,000 newborns. The primary goal is to identify treatable rare conditions early, allowing for timely interventions that could significantly improve or extend the lives of affected children.

The study uses blood samples taken shortly after birth, usually from the umbilical cord, for whole genome sequencing. This process allows the detection of conditions that might not show symptoms until later in childhood, thus enabling earlier diagnosis and treatment. Conditions like metachromatic leukodystrophy (MLD) are among those being screened. So far, more than 500 samples have been collected from 13 NHS hospitals, with plans to expand to around 40 hospitals ​

Parents are informed about the study during pregnancy and can opt-in for their newborn's participation. If a condition is detected, further testing and support from the NHS are provided to confirm the diagnosis and begin appropriate treatment​