DNA testing of 100,000 newborn babies begins as part of major study into 200 rare conditions By Kate Pickles Health Editor Published: 01:23, 3 October 2024 | Updated: 01:26, 3 October 2024 e-mail View comments Newborn babies are being tested for rare genetic disorders on the NHS for the first time in the biggest ever study of its kind. Doctors hope the simple blood test, which looks for genetic faults in DNA, will speed up diagnosis and treatment for thousands of babies born every year. The project marks the first time that whole genome sequencing (WGS) has been offered to healthy babies on the NHS.
It will screen for around 200 treatable disorders often before symptoms begin, allowing treatment to start sooner and potentially preventing longer-term health problems. More than 500 blood samples have been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 sites. Some 100,000 babies will be screened using samples from their umbilical cords taken shortly after birth Doctors hope the simple blood test, which looks for genetic faults in DNA, will speed up diagnosis and treatment for thousands of babies born every year Researchers will explore the potential of storing an individual genome over a person's lifetime and using it to help predict, diagnose and treat future illnesses.
Amanda Pritchard, NHS chief executive, said: 'Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testin.
