Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England.
The pioneering study aims to identify conditions such as metachromatic leukodystrophy (MLD) in babies sooner, and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.
The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth.
More than 500 blood samples have been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 hospitals.
The sequencing identifies treatable, rare conditions shortly after a baby is born rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.
The Generation Study will identify more than 200 conditions in otherwise asymptomatic babies where symptoms might not present until later in childhood.
Early effective intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.
Expectant parents will be informed about the study during pregnancy, and if interested a research midwife will have a detailed conversation with them to decide if they want to take part.
Shortly after birth, an NHS doctor, nurse or midwife will confirm with parents that they are still happy for their baby to be tested and a blood sample will be taken and sent to a laboratory for whole genome sequencing.
Results are then reviewed by NHS genomic scientists, with the aim of sharing with parents within 28 days if a condition is suspected or within a few months if no conditions are suspected.
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.
Amanda Pritchard, NHS Chief Executive 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 NHS is a world leader in genomics, and this study demonstrates the benefit of our partnership with Genomics England – allowing us to deploy cutting-edge technology to improve patients’ lives. If we can diagnose and treat children for rare genetic conditions years earlier, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and live independently – this will be transformational for patients and for the future of medicine”.
Every year, thousands of children are born in the UK with a treatable rare condition with genetic testing usually taking place in the NHS Genomic Medicine Service when the child has developed symptoms – with children under the age of 5 disproportionately affected.
The NHS blood spot screening (the heel prick test) is used to detect 9 rare but serious health conditions in newborn babies – the Generation Study is not intended to replace routine screening, and it is important that whatever decision parents make about participation in the Generation Study, their baby still has the blood spot test.
It is hoped that screening a baby’s entire genome – all of their DNA – could detect hundreds more rare, treatable diseases in their first years of life.
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 genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition.
“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. The Generation Study also shows the impact of our partnership with the NHS – meaning that the UK is uniquely placed to test, and, where proven, roll out genomic innovations to improve health and help us move healthcare increasingly to preventing illness”.
Lucy White’s 9-year-old son Joshua Curtis has early juvenile metachromatic leukodystrophy (MLD), one of the 200 conditions being tested for in the study.
Lucy said: “When Josh was born he was healthy but at the age of four we had concerns about his mobility, his hand-eye coordination 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. He is fed through a GJ tube in his stomach and is on multiple medications to keep him comfortable.
“As a family, the diagnosis of MLD has had a massive impact, I have given up work to care for him as he needs round the clock care, and we are facing the terrifying reality that this disease is terminal. We will continue to give Joshua the best life possible and make the most amazing memories with him while we can, and I hope that this study will help other families and children access the treatment they need sooner”.
NHS teams will also provide families with advice on how to manage different conditions, for example one of the conditions, osteogenesis imperfecta, parents can be advised on handling of their newborn to prevent long-term damage to their child’s bones.
The study will support broader healthcare research to improve testing and discover more treatments and explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses. For example, if a child who has had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.
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”.
Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for NHS Genomics said: “By studying the potential of using whole genome sequencing from birth, we can find out 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. This is another example that demonstrates the importance of providing patients with access to the latest innovative research as part of their routine NHS care”.
The Generation Study has been developed following extensive consultation with the public, parents and families affected by rare conditions as well as healthcare professionals, policy makers and scientists.
Genomics England is owned by the Department of Health and Social Care.
