Thousands of newborn babies in England are to be screened for 200 curable genetic conditions as part of crucial research being launched by the National Health Service (NHS).
The Generation Study, led by Genomics England in partnership with NHS England, will see babies offered whole genome sequencing using their blood samples, which are usually taken from the umbilical cord shortly after birth.
It is hoped the study, which will involve up to 100,000 babies, will help identify more than 200 rare conditions, such as metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
NHS chief executive Amanda Pritchard said the initiative would be vital. “Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families," she said.
“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.”
More than 500 blood samples have already been taken from newborns at 13 NHS hospitals as part of the study, with plans to raise that number to 40 hospitals.
By detecting these rare genetic conditions sooner, experts say 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, these conditions can be hard to diagnose, leading to delays in care.
Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.
The Generation Study screens for these conditions in babies who appear healthy but whose symptoms may not become apparent until later in life.
As part of recruitment for 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, then a blood sample is collected and sent to a laboratory for sequencing.
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 baby 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.
"To fix our broken NHS, we need to ensure the future of health care is more predictive, more preventative and more personalised," Health and Social Care Secretary Wes Streeting said.
“This kind of advance in genomics will help us achieve just that – ensuring families across the country have access to the right support and treatment for their loved ones. Too many parents are waiting too long for crucial answers on diagnosis, and I am determined that we use innovation to turn that around.”
For newborns, the NHS currently routinely carries out only a blood spot screening, known as the heel prick test, which is used to detect nine rare but serious health conditions.
Dr Rich Scott, chief executive at Genomics England, said the launch of the study was “a pivotal moment”.
“Children with these conditions often go years without receiving a diagnosis," he said. “Cutting this time would mean earlier access to what can be life-changing treatment.”
Lucy White’s son Joshua Curtis, 9, has terminal early juvenile MLD.
“When Josh was born he was healthy but at the age of four we had concerns about his mobility, his hand-eye co-ordination and difficulties he had with swallowing," she said. “It took us two years, after many tests and hospital appointments, to get a diagnosis because his condition was so rare.
“With earlier diagnosis, Josh could have benefitted from transformational gene therapy on the NHS, which would have been life-changing. Sadly, it was too late for Josh to receive treatment as his symptoms had progressed too far and so we have had to watch our child deteriorate in front of our eyes.
“He has lost all of the abilities he once had. He is now unable to walk, talk and eat, he struggles to swallow, has no core strength and is unable to support himself.”
Researchers are also hoping the study will help them learn more about the link between genes and health, which could lead to new treatment.
Storing genetic information from birth may also help people who are diagnosed with illnesses in later life.
