Sheffield hospital celebrates 2,000 baby milestone in huge genetic screening study
A genetic screening study testing newborn babies for hundreds of rare conditions has marked a major milestone with the recruitment of 2,000 participants at Sheffield's Jessop Wing Maternity Hospital.
The Generation Study, which is now in its concluding stages, is exploring whether testing newborn babies could help identify more than 200 rare but treatable genetic conditions, often before any symptoms appear.
It is being run by Genomics England in partnership with NHS England and is on track to recruit 100,000 newborn babies into the study before completion nationally in spring 2027.
The 2,000th participant milestone was made possible thanks to the invaluable contribution of Generation Study volunteers who between them spoke to over 700 expectant families.
Natalie Khoaz, Research Midwife and Principal Investigator of the study at Jessop Wing, Sheffield Teaching Hospitals NHS Foundation Trust, said: “The Generation Study is a hugely important national study which could shape the future of newborn screening. We are hugely proud to have hit our 2,000th participant milestone, which is a massive contribution to the study.
"Joining as a Generation Study site has been a tremendous honour, inspiring our teams to undertake more maternity research and demonstrating what can be achieved at a busy maternity hospital.
"It was also truly humbling to have played a key role in the detection of a rare eye cancer in little Freddie who was born here at Jessop Wing. Thanks to the study, his aggressive condition was detected when he was four weeks old, giving specialist doctors in Birmingham the best chance to minimise the impact on his vision.
“We would like to take this opportunity to thank all the families, staff and volunteers who have supported the Generation Study over the past two years.”
The study involves the collection of a small blood sample from their newborn, usually taken from the umbilical cord shortly after birth. The sample is then sent for DNA extraction and analysis by NHS scientists using a process called whole genome sequencing which looks for genetic changes linked to the 200+ diseases being looked at in the study.
If a possible condition is identified, families are contacted promptly and offered further NHS testing to confirm a diagnosis. Where appropriate, babies can then begin specialist treatment and ongoing support at the earliest possible stage.
The Generation study will continue to run at Jessop Wing but on a limited basis.