NHS England has announced that hundreds of babies have begun to be tested for over 200 genetic conditions as part of a study led by Genomics England.
The Generation Study is evaluating the potential of identifying treatable, rare diseases shortly after a baby is born rather than when symptoms might appear later in childhood.
This could enable patients to benefit from earlier diagnosis and treatment that could help slow disease progression.
Up to 100,00 newborns in England will be offered whole genome sequencing using blood samples, usually taken from the umbilical cord shortly after birth.
More than 500 samples have already been collected at 13 NHS hospitals across the country, with plans to scale up to approximately 40 hospitals.
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.”
Thousands of children are born with a treatable rare condition in the UK every year, with genetic testing typically taking place when symptoms develop.
The NHS heel prick test is currently used to detect nine rare but serious health conditions in newborns. However, it is hoped that screening a baby’s entire genome could detect hundreds more treatable diseases in their first years of life.
Under the study, if a baby is identified as having a treatable childhood condition, families and carers will be provided with further NHS testing to confirm a diagnosis, alongside ongoing support and treatment.
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… 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.”
