Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England.
The pioneering study aims to identify conditions such as 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, will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their 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. 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.
Dr Rich Scott, Chief Executive Officer 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 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. For example, if a child who has had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.