Norfolk professor says new-born screening could improve treatment and outcomes
Over 500 blood samples have already been taken from newborns at 13 NHS hospitals as part of a new programme
Last updated 6th Oct 2024
A professor in genetics at the University of East Anglia is telling us that new research to help identify 200 conditions in new-borns could speed up treatment and improve patient outcomes.
Up to 100-thousand of babies will be screened for dozens of genetic disorders, as part of a programme led by the NHS- through blood samples taken from the umbilical cord after birth.
More than 500 blood samples have already been taken from new borns at 13 NHS hospitals as part of the study, with plans to scale up to around 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.
Professor Barbara Jennings is from Norwich Medical School and says: " One of the things that will probably looked at over time is whether people who have had their genome sequence done in childhood might then benefit from screening for later onset disease much later in life, but they already have that DNA sequence in the bank.
"Just reducing stress for patients as they get a full diagnosis for a child with a rare genetic disease, that could occur much earlier with the help of new-born screening.
"If positive results come back then usually there'd be additional tests that would go on, but obviously but they can be done much more quickly if that initial screening test has been done and hopefully both patients and their families won't go through that what we call the 'diagnostic odyssey.
"In the United States a similar approach has been used already in a similar study and one the things they found out that not all communities got access to this equally, and more affluent communities got access to more data and more genetic medicine potential than poorer communities."
The programme in more detail:
More than 500 blood samples have already been taken from newborns at 13 NHS hospitals as part of the study, with plans to scale up to around 40 hospitals.
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 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.
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 ongoing support and treatment.
"Ensuring families across the country have access to the right support"
Health and Social Care Secretary Wes Streeting said: "To fix our broken NHS, we need to ensure the future of healthcare is more predictive, more preventative and more personalised.
"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."
"Has the potential to give thousands of children the chance to access the right treatment"
NHS chief executive Amanda Pritchard 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."
The routine NHS blood spot screening (the heel prick test) is used to detect nine rare but serious health conditions in newborn babies.
The Generation Study will not change this, and is designed as an extra test.
Dr Rich Scott, chief executive officer at Genomics England, said the launch of the study was "a pivotal moment", adding: "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."
"We have had to watch our child deteriorate in front of our eyes"
Lucy White's nine-year-old son Joshua Curtis has terminal early juvenile MLD, one of the 200 conditions being tested for in the study.
She said: "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.
"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 treatments.
Storing genetic information from birth may also help people who are diagnosed with illnesses in later life.