Newborn babies in South Yorkshire are now being screened for rare genetic conditions as part of a groundbreaking national study designed to detect treatable disorders early.
The study, led by Genomics England in collaboration with NHS England, uses whole genome sequencing to analyse blood samples taken from a baby’s umbilical cord shortly after birth at Sheffield’s Jessop Wing maternity unit.
The research aims to screen for over 200 rare but treatable genetic conditions, including cystic fibrosis and brittle bone disease.
Experts say early detection will allow quicker access to treatment, potentially improving and even saving lives, rather than waiting for symptoms to appear later in childhood.
Parents-to-be are informed about the study during pregnancy and offered the opportunity to participate. If a genetic condition is suspected, results are reviewed by NHS genomic scientists and shared with parents within 28 days.
Alice and Robert Bird, the parents of Sophia, the first baby screened in Sheffield, described the experience as “a privilege to take part in such important and life-changing research.” They added, “We hope that it will help with identification of conditions and possibly save lives.”
The Jessop Wing maternity unit, which cares for more than 5,500 babies annually, is part of a wider effort to analyse the entire genetic code of up to 100,000 newborns across England.
Jackie Cook, a consultant clinical geneticist, emphasised the importance of early detection, saying, “Early identification of rare genetic disorders can help slow the progression of disease and improve or even extend lives.
“Knowing a child has a rare but treatable genetic condition at an earlier stage also helps prepare families and carers and can make the experience less traumatic.”
This pioneering research could revolutionise the future of newborn healthcare, providing families with the knowledge and resources needed to give their children the best possible start in life.
