A new study is encouraging women to participate in a scheme that could help identify more than 200 rare but treatable genetic conditions in newborn babies. The Generation Study, led by Genomics England in partnership with NHS England, offers genomic sequencing using a small blood sample, usually taken from the umbilical cord shortly after birth.
University Hospital Southampton (UHS) is contributing to the voluntary scheme, which aims to screen 100,000 newborns across England. UHS stated that the testing at Princess Anne Hospital is free and safe, and could lead to early diagnosis, earlier treatment, and improved outcomes.
Parents are introduced to the study during pregnancy. If a possible condition is identified, families are contacted promptly and offered further NHS testing to confirm a diagnosis, according to UHS. Where appropriate, babies can then begin specialist treatment and ongoing support at the earliest possible stage.
Dr Gabriella Gazdagh, consultant in clinical genetics at UHS and co-local lead, said that while each condition in the study is rare, collectively they affect many families. She added that identifying these conditions as early as possible can make a significant difference by giving babies access to specialist care and treatment before symptoms develop.