Newborn babies are being tested for rare genetic conditions for the first time on the NHS in the largest ever study of its kind.
Doctors hope the simple blood test, which looks for genetic errors in DNA, will speed up the diagnosis and treatment of thousands of babies born every year.
The project marks the first time Whole Genome Sequencing (WGS) has been offered to healthy babies on the NHS.
It will screen for around 200 treatable conditions, often before symptoms start, allowing treatment to start earlier and potentially preventing longer-term health problems.
More than 500 blood samples were taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to expand to around 40 locations.
About 100,000 babies will be screened using umbilical cord samples taken shortly after birth.
Doctors hope the simple blood test, which looks for genetic errors in DNA, will speed diagnosis and treatment for thousands of babies born every year
Researchers will explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future diseases.
Amanda Pritchard, chief executive of the NHS, said: ‘Diagnosing rare conditions in newborn babies as quickly as possible through genomic testing could be truly life-changing for families.
‘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.’
About 100,000 babies will be screened using umbilical cord samples taken shortly after birth.
Expectant parents are asked whether they would like to participate in the Generation Survey during pregnancy.
If a condition is diagnosed, the baby will undergo further tests to confirm the diagnosis before receiving treatment.
It is hoped that an earlier diagnosis will save parents months or even years of anxiety about not knowing what is wrong with their child.
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 newborn genomic screening should be offered to all children – to do more for the thousands of children born every year in Britain with a treatable genetic condition.
‘Children with these conditions often remain undiagnosed for years. Reducing this time would mean earlier access to a life-changing treatment.”
The data can also be used to support broader healthcare research aimed at improving testing and discovering more treatments.
At the end of the trial, policy makers will decide whether whole genome sequencing should be rolled out as part of a future newborn screening program
The data can also be used to support broader healthcare research aimed at improving testing and discovering more treatments
Researchers will explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future diseases.
For example, if a child whose genome has been sequenced becomes ill when older, there may be an opportunity to use the stored genetic information to help diagnose and treat the child.
Critics have raised concerns about the potential medical implications for parents and their extended family, as well as the possibility of flagging non-paternity, with some fearing people would opt out of screening altogether.
At the end of the trial, policymakers will decide whether whole genome sequencing should be rolled out as part of a future newborn screening programme.
Dame Sue Hill, Chief Scientific Officer for England, said: ‘By studying the potential of using whole genome sequencing from birth, we can discover whether delivering early treatments for rare genetic conditions could transform a young patient’s care and whether there are longer-term benefits. of having a whole genome sequence from birth.”