The Generation Study is looking at the effectiveness of the whole genome sequencing - where DNA is read like a barcode - to find and treat genetic conditions. This will hopefully enable babies to benefit from earlier diagnosis and treatment that could help slow the progression of a potential disease, and improve or even extend their lives. The Rosie Hospital is part of Cambridge University Hospitals, which was one of the first NHS trusts to be involved in the study.
The study is led by Genomics England, in partnership with the NHS, and will screen up to 100,000 newborns in England. Consultant in obstetrics and feto-maternal medicine at CUH, Katarzyna Gajewska-Knapik, said: "Thousands of children are born every year with a rare condition that could be detected using whole genome sequencing. "For many of these illnesses, early and effective treatment is crucial for helping children live healthier lives.
" The Generation Study will see newborn babies offered whole genome sequencing using blood samples which are usually taken from the umbilical cord shortly after birth. The sequencing identifies treatable, rare conditions shortly after a baby is born, rather than when symptoms might appear later in childhood, helping families to access the right treatment and support earlier. Suzannah Twiss, research midwife at CUH said: "It’s reassuring for parents to know if a condition is suspected, they will be offered specialist care from one of the NHS specialists in that condition, so tha.
