• Bolton NHS Foundation Trust joins study to screen babies for rare genetic conditions
• Generation Study aims to diagnose conditions sooner to help transform lives
• Screening uses genome sequencing using blood samples, usually taken from umbilical cord

Bolton NHS Foundation Trust has joined a world-leading study that is screening newborn babies for more than 200 rare genetic conditions.

The pioneering study aims to identify a range of conditions, including metachromatic leukodystrophy (MLD), in babies sooner, and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.

The Generation Study, led by Genomics England in partnership with NHS England, sees 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 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 screen for 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.

Tyrone Roberts, Chief Nursing Officer at Bolton NHS Foundation Trust, said:

This is an opportunity to use the latest advancements in technology and science to help diagnose rare conditions at the earliest opportunity in a newborn’s life and potentially transform their future.

“By diagnosing conditions sooner, we’re able to make sure babies and their families get the access to the care and treatment they need – and our nurses and midwives, with the support of Genomics England, will be there every step of the way to support families through the study.

How do families get involved?

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 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 and shared with parents as soon as possible.

If a newborn baby is identified as having genetic changes related to a 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.

Dr Rich Scott, Chief Executive Officer at Genomics England said:

The Generation Study looks 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 evidence gathered will inform future policy decisions on universal genomic newborn screening.

Participation in the study is voluntary, and families can withdraw at any time. Babies will be re-consented around the age of 16, reflecting Genomics England’s commitment to ongoing, informed consent.

To find out more about the study, visit www.generationstudy.co.uk.