Thousands of newborn babies to be screened to detect rare genetic conditions
Up to 100,000 newborns in England are to be screened as part of a study to help identify more than 200 rare genetic conditions.
The Generation Study will see babies offered whole genome sequencing using blood samples taken from the umbilical cord.
It’s hoped the research - led by Genomics England in partnership with NHS England - will help to detect dozens of rare conditions.
One of the hereditary conditions being screened is Metachromatic leukodystrophy (MLD) which causes a progressive loss of physical and mental skills.
Lucy White’s nine-year-old son, Joshua Curtis, has terminal early juvenile MLD, and said a slow diagnosis denied him the chance to get adequate treatment.
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."
Experts say hundreds of children could benefit from earlier diagnosis and treatment if the conditions are detected sooner which 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.
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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."
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.
Dr Rich Scott, chief executive officer at Genomics England, said the launch of the study was "a pivotal moment" and says it will help cut time for children to get "life-changing treatment".
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."
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