The NHS in England will screen 100,000 newborn babies for more than 200 genetic conditions in a world-first program aimed at promoting early diagnosis and treatment.
All new parents are currently offered a blood test for their babies, normally when the child is five days old, to check if they have one 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 for testing.
Now, as part of a large-scale study, 100,000 newborns will be offered much more advanced tests of whole-genome sequencing, using blood samples typically taken from the umbilical cord shortly after birth.
“Diagnosing rare conditions in newborn babies as quickly as possible 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 opportunity to access the right treatment at the right time, giving them the best possible start in life, and allowing families to better plan their care.”
The programme, 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 abilities.
Blood samples from more than 500 newborns have already been collected at 13 NHS hospitals, and there are plans to offer the test to 100,000 babies across 40 hospitals in England.
By detecting rare genetic conditions earlier, hundreds of children could benefit from earlier diagnosis and treatment that could slow the progression of the disease or extend their lives. Currently, many of these conditions can be difficult 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 and enable more children to grow up, go to school and live independently. This will be transformative 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 associated with specific health conditions. The program, 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 for the study, pregnant women and their partners will be informed about the study during routine check-ups and invited to participate.
If they choose, an NHS doctor, nurse or midwife will confirm at the time of birth that they would like to proceed, after which a blood sample will be taken and sent to a laboratory for sequencing.
One of the first babies to be tested for the many 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 awaiting the results, said: “We felt the study could be useful for Joshua if something came out of it and would allow him to get treatment early – and hopefully other children too could help. It was also non-invasive, so it didn’t worry us about the impact on him.”
Parents will receive the test results within 28 days if a condition is suspected, or within a few months if no problems are noted.
If a newborn baby is diagnosed with a treatable childhood illness, their families and carers are offered further NHS testing to confirm the diagnosis, plus ongoing support and treatment.
Dr. Rich Scott, the CEO of Genomics England, said: “Children with these conditions often go years without being diagnosed. Reducing this time would mean earlier access to a life-changing treatment.”
He added that the study would help determine whether genomic screening of newborns should be offered to all children in the future.
Researchers also hope 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 can also help people diagnosed with a disease later in life.
Wes Streeting, the Health Secretary, said the future of healthcare must be “more predictive, more preventative and more personal” to help fix the “broken” NHS. “These kinds of advances in genomics will help us achieve exactly that,” he added.