A world-leading study screening up to 100,000 newborn babies in England for more than 200 rare genetic conditions has now launched at Sheffield’s Jessop Wing.
The Generation study, led by Genomics England in partnership with NHS England, aims to identify rare, treatable conditions including cystic fibrosis, brittle bone disease as well as lesser-known disorders such as metachromatic leukodystrophy (MLD) in hundreds of babies shortly after birth rather than when symptoms might appear later in childhood.
In Sheffield, the study is being led by Jessop Wing at Sheffield Teaching Hospitals NHS Foundation Trust in conjunction with Sheffield Children’s NHS Foundation Trust.
Families and parents taking part in the study will have their baby’s donated blood sample, usually taken from the umbilical cord shortly after birth, screened for over 200 genetic conditions using a technique known as whole genome sequencing.
By taking part in the study families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.
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 Rare Disease North East and Yorkshire Genomic Medical Services and Sheffield Children’s Consultant in Clinical Genetics, said: “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 patient in Sheffield
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 16th December 2024. Sophia’s mum Alice and dad Robert said:
“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.”
Expectant parents are informed about the study during pregnancy, and if interested a research midwife will have a detailed conversation with them to discuss if they want to take part.
Shortly after birth, an NHS doctor, nurse or midwife will confirm with parents that they are still happy for their baby to be tested and a blood sample will be taken and sent to a laboratory for whole genome sequencing.
Results are then reviewed by NHS genomic scientists, with the aim of sharing with parents within a couple of months if a condition is suspected.
What happens if a rare condition is identified?
If a newborn baby is identified through genomic sequencing as having a lifelong condition identified in childhood which can receive treatment, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS – in this case at their local Sheffield Children’s hospital.
It is hoped that screening a baby’s entire genome – the entire set of DNA instructions found in a cell – could detect hundreds more rare, treatable diseases in their first years of life.
NHS teams will also provide families with advice on how to manage different conditions, for example one of the conditions, osteogenesis imperfecta (brittle bone disease) parents can be advised on handling of their newborn to prevent long-term damage to their child’s bones.
The study will support broader healthcare research to improve testing and discover more treatments and explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses.
For example, if a child who has had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.
Expectant parents can register their interest or find more information on the Generation Study website and select Sheffield on the dropdown menu or contact the Jessop Wing Generation Study Team by telephone on 0114 226 8333 or email sth.generationstudy@nhs.net.