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Up to 100,000 newborn babies in England are to be screened for dozens of genetic conditions as part of “world-leading research” in the NHS.
The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using their blood samples, which are usually taken from the umbilical cord shortly after birth.
The study will help identify more than 200 rare conditions, such as Metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
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.
Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families.— NHS chief Amanda Pritchard
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 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.
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.”
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.”
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.
