Newborn babies tested for over 200 genetic conditions as world-leading study begins at NNUH
Newborn babies can now be tested for over 200 rare genetic conditions as the Norfolk and Norwich University Hospital (NNUH) joins a world-leading research study in NHS hospitals that aims to screen up to 100,000 newborns in England.
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.
The sequencing identifies treatable, rare conditions shortly in otherwise asymptomatic babies where symptoms might not present until later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.
Early effective intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.
The research study is open to all women over 16 who have a singleton pregnancy (not twins or triplets). Shortly after birth a blood sample will be taken by a midwife and sent to a laboratory for whole genome sequencing.
The NHS blood spot screening (the heel prick test) is used to detect nine rare but serious health conditions in newborn babies – the Generation Study is not intended to replace routine screening, and it is important that whatever decision parents make about participation in the Generation Study, their baby still has the blood spot test.
Research Midwife and Principal Investigator Leanne Trenerry said: “99% of women who take part will receive a letter or email telling them there is ‘no condition suspected’. For the 1% of ‘condition suspected’ cases, families will be contacted by an appropriate NHS specialist team to provide further testing to confirm a diagnosis.”
Director of Midwifery at NNUH Stephanie Pease added: “This is a great opportunity to be part of this project.”
There is no obligation for women to take part in the study. Expectant parents will be informed about the study at their 20-week scan appointment. If interested a research midwife will have a detailed conversation with them to decide if they want to take part.
The results will add to evidence that will inform future decisions on using whole genome sequencing to support newborn screening. This includes using it to accelerate diagnosis and access to treatments for rare conditions.
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.
Expectant parents can self-refer at https://www.generationstudy.co.uk/register-your-interest