A groundbreaking study screening up to 100,000 newborn babies in England for more than 200 rare genetic conditions has officially launched at Sheffield’s Jessop Wing. The Generation Study, led by Genomics England in partnership with NHS England, aims to identify rare, treatable conditions in hundreds of babies shortly after birth, providing them with earlier access to necessary support and treatment.
Screening for treatable conditions
The study will screen for conditions such as cystic fibrosis, brittle bone disease, and lesser-known disorders like metachromatic leukodystrophy (MLD). In Sheffield, the study is being led by Jessop Wing at Sheffield Teaching Hospitals NHS Foundation Trust, in collaboration with Sheffield Children’s NHS Foundation Trust.
Participating families will have their baby’s donated blood sample, usually taken from the umbilical cord shortly after birth, screened using whole genome sequencing. This innovative technique could revolutionise early diagnosis and treatment, significantly improving affected children’s quality of life.
Groundbreaking study
Natalie Khoaz, research midwife at Jessop Wing and principal investigator for the Generation Study in Sheffield, said:
“We are incredibly excited to be part of this groundbreaking study. Jessop Wing is a specialist maternity unit, caring for over 5,500 babies a year, and this is a fantastic opportunity for women and families across the region to potentially make a huge difference to future generations’ lives. Taking part couldn’t be simpler, and as well as benefiting hundreds of babies in Sheffield and beyond, the research will support the incredible work of our specialist midwifery, neonatal and fetal medicine teams in helping babies and children born with more complex needs.”
Dr Jackie Cook, clinical director of rare disease North East and Yorkshire Genomic Medical Services and consultant in clinical genetics at Sheffield Children’s NHS Foundation Trust, emphasised the importance of early diagnosis:
“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.
“Sheffield Children’s is home to dedicated paediatric specialists who care for babies, children, and young people locally and nationally with complex conditions, including genetic disorders. Sheffield Children’s welcomes this study as a huge opportunity to support children and families earlier, providing access to the support and treatment needed.”
First baby to take part
The first baby to have a cord blood sample taken as part of the study at Jessop Wing was Sophia Bird, who was born on 16 December 2024. Her parents, Alice and Robert, shared their thoughts on participating in the research:
“We would like to say it is a privilege to be the first parents of a child in Sheffield to take part in such important and life-changing research.
“Although we can only grasp the surface of what the information will deliver, we hope that it will help with identification of conditions and possibly save lives.”
Benefits of whole genome sequencing
Expectant parents are informed about the study during pregnancy, with a research midwife available to discuss their participation in detail. Shortly after birth, an NHS doctor, nurse, or midwife will confirm the parents’ continued consent before taking a blood sample for whole genome sequencing.
NHS genomic scientists analyse the results, aiming to provide parents with information within a couple of months if a condition is suspected. If a genetic condition is identified, families will receive further NHS testing to confirm a diagnosis, as well as ongoing support and treatment at Sheffield Children’s Hospital.
By screening a baby’s entire genome (the entire set of DNA instructions found in a cell), researchers hope to detect hundreds of rare but treatable diseases early in life. The study will also contribute to broader healthcare research, improving testing methods, discovering new treatments, and exploring the potential of storing an individual’s genome for future medical use.
For example, if a child who has had their genome sequenced falls ill later in life, their stored genetic information could aid in diagnosis and treatment. Additionally, NHS teams will provide families with condition-specific advice, such as handling techniques for osteogenesis imperfecta (brittle bone disease) to prevent long-term damage.
Expectant parents interested in participating can find more information on the Generation Study website by selecting Sheffield from the dropdown menu. They can also contact the Jessop Wing Generation Study Team via telephone at 0114 226 8333 or email sth.generationstudy@nhs.net.
