A research team has thanked parents in Teesside who have supported a national study screening babies for rare genetic conditions – after the service at the University Hospital of North tees reached the key milestone of recruiting more than 200 newborn babies.
The maternity teams at the University Hospital of North Tees and University Hospital of James Cook are taking part in the Generation Study, a national project investigating whether early diagnosis and treatment of rare childhood‑onset conditions can improve long‑term health outcomes.
As part of the study, a baby’s genome is sequenced shortly after birth using a small blood sample taken from the umbilical cord, with parental consent. The screening looks for conditions where early treatment is already available, aiming to identify risks before symptoms appear for more than 200 rare genetic conditions.
Thank you to all families supporting study
Sharon Gowans, research midwife at the University Hospital of North Tees, said: “This trial is helping us to look at whether genomic screening at birth is feasible, accurate, and beneficial. Reaching more than 100 participants locally is a fantastic achievement and shows how engaged our families are in supporting research that could transform future care.
“It will also improve understanding of this type of information, and this data could help us diagnose and treat rare diseases earlier. It has the potential to have a very positive outcome that could improve how we care for someone who carries one of these rare conditions.”
The genome is sequenced and analysed for specific conditions chosen by clinical experts. If a condition is suspected, results are returned to parents by a specialist, followed by further diagnostic testing and early intervention where needed.
The study is led by Genomics England in partnership with NHS England and aims to recruit 100,000 newborn babies across England.
Parents can find out more or register their interest on the Generation Study website.