The NHS in England is to screen 100,000 newborn babies for more than 200 genetic conditions in a world-first scheme aimed at bolstering early diagnosis and treatment.
All new parents are currently offered a blood spot test for their babies, normally when the child is five days old, to check whether they have any of nine rare but serious conditions. The newborn’s heel is pricked to collect a few drops of blood on a card that is sent away to be tested.
Now, as part of a large-scale research study, 100,000 newborns will be offered much more advanced tests of the whole genome sequencing using blood samples typically taken from the umbilical cord shortly after birth.
“Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families,” said Amanda Pritchard, the chief executive of NHS England.
“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.”
The scheme, which is being led by Genomics England in partnership with NHS England, will check babies for more than 200 rare conditions. They include metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
Blood samples from more than 500 newborns have already been collected at 13 NHS hospitals, with plans to offer the test to 100,000 babies across 40 hospitals in England.
By detecting rare genetic conditions sooner, hundreds of children could benefit from earlier diagnosis and treatment that could help slow progression of the disease or extend their lives. At the moment, many of these conditions can be hard to diagnose, leading to delays in care.
Pritchard said: “If we can diagnose and treat children for rare genetic conditions years earlier, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and live independently. This will be transformational for patients and for the future of medicine.”
Whole genome sequencing provides a readout of a person’s entire genetic code and checks for changes linked to specific health conditions. The scheme, which is called the Generation Study, will screen for more than 200 conditions in babies who appear healthy but whose symptoms may not appear until later in life.
As part of recruitment to the study, pregnant women and their partners are being told about the research during routine checks and invited to take part.
If they choose to, an NHS doctor, nurse or midwife confirms at the time of birth they are happy to proceed and then a blood sample is collected and sent to a laboratory for sequencing.
One of the first babies tested for the multiple rare conditions was Joshua Charnock – born at St Michael’s hospital in Bristol – after his parents, Gemma Charnock and Jimmy Cliftlands, joined the study.
Gemma Charnock, 39, who is waiting for the results, said: “We felt the study could be beneficial to Joshua if it did find anything and would enable him to get treatment early – as well as hopefully helping other children. It was also non-invasive so didn’t cause us any concerns about the impact on him.”
Parents are given the results of the test within 28 days if a condition is suspected, or within a few months if no problems are picked up.
If a newborn is identified as having a treatable childhood condition, their families and carers will be offered further NHS testing to confirm the diagnosis, plus continuing support and treatment.
Dr Rich Scott, the chief executive of Genomics England, said: “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.”
He added that the research would help establish whether genomic newborn screening should be offered to all children in future.
Researchers are also hoping the study will help them learn more about the link between genes and health, which could lead to new treatments. Storing genetic information from birth may also help people who are diagnosed with illnesses in later life.
Wes Streeting, the health secretary, said the future of healthcare must be “more predictive, more preventative and more personalised” to help fix the “broken” NHS. “This kind of advance in genomics will help us achieve just that,” he added.
