World-leading generation study launches in NHS hospitals
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World-leading generation study launches in NHS hospitals
Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a research study in NHS hospitals that aims to screen up to 100,000 newborns in England.
The pioneering study aims to identify rare genetic conditions 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.
October 3, 2024
The study in detail
The Generation Study, led by Genomics England in partnership with NHS England, will offer whole genome sequencing for newborn babies using blood samples which are usually taken from their umbilical cord shortly after birth.
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.
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 the specialist laboratory for whole genome sequencing.
What happens after sequencing takes place?
Results from the study are reviewed by NHS genomic scientists, with the aim of letting parents know early on if their baby has a condition suspected. If no conditions are suspected, parents will have this confirmed by letter in a few months.
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.
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.
How is the Genomic Medicine Service involved?
Regional Genomic Medicine Service teams will play an important role in the generation study by linking the Generation Study research test to patient care. Parents of newborns with a suspected condition will be supported in accessing NHS services by the Generation Study Regional Results Coordinators (RRC) for confirmatory testing and treatment, as required.
Our teams have worked closely with recruiting sites and specialist NHS Trusts to ensure pathways are in place for families as they begin NHS care. This vital role will ensure that families are supported at every stage of their journey.
“The launch of this study is an incredibly exciting and important step forward for early genomic testing. We are proud to be working alongside Genomics England and NHS England to ensure that families taking part in this study are supported at every stage.” Dr Sophia Varadkar, co-medical director of the NT GMS.
North Thames regional involvement
In the North Thames region there are currently 4 hospitals that are recruiting families onto this research study, with another due to join soon:
Chelsea and Westminster Hospital
West Middlesex University Hospital
University College London Hospital
Queen Charlotte’s and Chelsea Hospital
Barts Health (joining the Generation Study soon)
Head to the Generation Study website to find out more, including information about how to register your interest in the study.
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.
It is important to note, that the Generation Study is a research study and is not designed to replace the existing Newborn Bloodspot Screening (NBS) test. If parents make a decision to participate in the Generation Study, their baby should still have routine newborn blood spot screening.
Hear from healthcare leaders
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 five disproportionately affected.
The NHS blood spot screening (the heel prick test) is used to detect nine 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.”
Wes Streeting, Health and Social Care Secretary 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.”
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.”
