First newborn babies screened for over 200 genetic conditions as Trust joins world-leading study
07 October 2024
We are proud to be taking part in the Generation Study to research the use of genome sequencing to screen for rare conditions in newborn babies.
Hundreds of babies at Chelsea and Westminster Hospital and West Middlesex University Hospital have begun to be screened for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England.
The pioneering study aims to identify rare conditions sooner and could enable hundreds of children to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.
More than 200 blood samples have already been taken from newborns born at the Trust as part of the study, with the hopes of recruiting many more.
The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth.
Early identification and effective intervention can help to prevent longer term health problems, keeping children out of hospital, and helping them live healthier lives.
Expectant parents will be informed 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 NHS doctor, nurse or midwife will confirm with parents that they are still happy for their baby to be screened 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 28 days if a condition is suspected or within a few months if no conditions are suspected.
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.
Ms. Archana Dixit, Consultant Obstetrician and Gynaecologist said: "We are excited to be a part of The Generation Study across our hospitals, which will screen newborns for over 200 genetic disorders, aiming to identify and treat conditions early in life. This initiative represents a transformative step in preventive healthcare, offering hope for improved outcomes and healthier futures for our children."
Professor Mark Johnson, Director of Research and Development said: "The Generation study is the future of medicine, delivering on the promise of personalised medicine. It is hoped that screening a baby’s entire genome – all of their DNA – could detect hundreds more rare, treatable diseases in their first years of life.”