Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of major study in NHS hospitals that aims to screen up to 100,000 newborns in England. The Generation Study offers whole genome sequencing for newborn babies using blood samples, which are usually taken from their umbilical cord shortly after birth.
St Michael’s Hospital, part of University Hospitals Bristol and Weston NHS Foundation Trust, was the first hospital in England to introduce screening for The Generation Study led by Genomics England in partnership with NHS England.
Amanda Pritchard, NHS chief executive said, “Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families—it has the potential to give thousands of children the chance to access the right treatment at the right time, giving them the best possible start to life, and for families to better plan for their care.”
Rich Scott, CEO at Genomics England said, “The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children—to do more for the thousands of children born every year in the U.K. with a treatable genetic condition.
More than 500 blood samples have already been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 hospitals.
The sequencing identifies treatable, rare conditions shortly after a baby is born rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.
The Generation Study will identify more than 200 conditions in otherwise asymptomatic babies where symptoms might not present until later in childhood. 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.
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, 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 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.
Pritchard added, “Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment.”
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.
