First newborn babies tested for over 200 genetic conditions

The Generation Study, led by Genomics England in partnership with NHS England, will see whole genome sequencing offered for newborn babies, using blood samples that are usually taken from the umbilical cord shortly after birth.

More than 500 blood samples have 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. Expectant parents will be informed about the study during pregnancy and, if interested, a research midwife will have a detailed conversation to help them 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.

The NHS blood spot screening (the heel prick test) is used to detect 9 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.

Dr Rich Scott, Chief Executive Officer at Genomics England, says: “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 UK with a treatable genetic condition.

“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 Generation Study also shows the impact of our partnership with the NHS – meaning that the UK is uniquely placed to test, and, where proven, roll out genomic innovations to improve health and help us move healthcare increasingly to preventing illness.”

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.