15/10/2025
Our Leighton Hospital maternity unit is supporting a world-leading study to identify rare genetic illnesses in newborn babies 🔬🧬❤️ - playing our part locally in ground-breaking national research!
The unit has joined the Generation Study, led by Genomics England in Partnership with NHS England, which involves the offer of whole genome sequencing to identify treatable, rare genetic conditions shortly after a child is born.
It is hoped the study will enable hundreds of patients across the country to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives. For more information, visit
https://www.mcht.nhs.uk/news-and-events/news/crewe-maternity-unit-joins-world-leading-study-identify-rare-genetic-illnesses-newborns
To register your interest, visit https://www.generationstudy.co.uk/
At Mid Cheshire Hospitals, expectant parents will be told about the study during pregnancy, and if interested a research midwife will have a detailed conversation with them to decide if they want to take part.
Shortly after birth, a doctor, nurse or midwife will confirm with the parents that they are still happy for their baby to be tested and a blood sample will be taken - usually from a baby’s umbilical cord - and sent to a laboratory for whole genome sequencing.
Results are then reviewed before being returned to parents.
If a newborn baby is identified as having a treatable childhood condition, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment.
At Mid Cheshire Hospitals, Jonathan Ford is the Principal Investigator and Dr Christopher Pannell is the Sub-Investigator for the study. The team supporting them are Research Midwives Carol Percy and Lindsey Hickson, Paediatric Research Nurse Joanne Tomlinson, and Clinical Trials Co-ordinator Katie Willson.
To contact the team directly, please call 07435 178404.
The study aims to screen 100,000 newborns in England, with over 40 hospitals currently taking part.
NHS blood spot screening (the heel prick test) is already used to detect ten rare but serious health conditions in newborn babies. The Generation Study is not intended to replace this routine screening, and it is important that whatever decision parents make about participation in the study, their baby still has the blood spot test.
NHS North West
Careers at Mid Cheshire Hospitals NHS Foundation Trust
NHS Cheshire and Merseyside
NHS England
nhs.uk
Genomics England
