Hospital joins pioneering study to test newborn babies for rare genetic conditions
A major hospital has joined a world-leading study which will test newborn babies for a range of genetic conditions.
St Thomas’ Hospital, in Westminster Bridge Road, Lambeth North, has joined the Genetic Study, led by Genomics England in partnership with NHS England, which will test thousands of babies for more than 200 rare genetic conditions.
The study aims to offer babies an early diagnosis of rare conditions – such as spinal muscular atrophy, haemophilia and neonatal diabetes – which would allow treatment to start from birth, rather than waiting for symptoms to appear in later childhood.
Over the coming weeks, the research team at St Thomas’ Hospital will approach expectant parents during appointments at the maternity department to discuss the study.
Babies who are recruited will have their whole genome sequenced, from a small blood sample taken from their umbilical cord shortly after birth.
Results will be reviewed by genomic scientists, with the aim of sharing results with parents within 28 days if a condition is suspected, or slightly longer if no conditions are suspected.
If a baby is identified as having a treatable rare disease, the family will be provided with further support from clinicians at Evelina London Children’s Hospital – part of Guy’s and St Thomas’ NHS trust.
Evelina London Children’s Hospital has already recruited 30 pregnant mothers to the study, with 20 blood samples having been taken from newborn babies.
Dr Chinthika Piyasena, consultant neonatologist and principal investigator at Evelina London Children’s Hospital said: “Genomic sequencing in early life could offer some really important benefits for early diagnosis, development of new treatments, and with huge potential to improve longer term health.
“We are grateful to the clinical midwifery teams and paediatric specialists for supporting the study.”
If you would like your baby to take part in the Generation Study or would like more information, please email generationstudy@gstt.nhs.uk.
Pictured top: St Thomas’ hospital maternity research team (Picture: St Thomas’ hospital)