A pregnant woman at St Michael's Hospital in Bristol reading a Generation Study leaflet with a member of the Generation Study team.University Hospitals Bristol and Weston NHS Foundation Trust
Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study delivered by a University of Bristol team and run in NHS hospitals that aims to screen up to 100,000 newborns in England.
The pioneering study aims to identify 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.
St Michael's Hospital, part of University Hospitals Bristol and Weston NHS Foundation Trust, was the first hospital in England to introduce screening for The Generation Study led by Genomics England in partnership with NHS England.
The study will aim to recruit 100,000 newborn babies for full genomic sequencing, and is now rolled out across 13 hospitals, with St Michael's Hospital the first to recruit patients and complete testing.
Colleagues at St Michael's Hospital have already recruited more than 160 people into the study, and carried out more than 90 tests. So far more than 500 blood samples have been taken across the study, with plans to expand to more hospitals.
The screening involves whole genome sequencing of a blood sample, usually taken from the umbilical cord shortly after birth.
The sequencing identifies treatable, rare conditions, such as Metachromatic leukodystrophy (MLD), 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.
Professor Andrew Mumford, from the Bristol Medical School at the University of Bristol and Research Director for South West NHS Genomic Medicine Service Alliance, said: "I'm proud to be leading a pioneering team based at the University and University Hospitals Bristol and Weston Trust that were the first in England to enable local families to join the Generation study.
"More than 160 families have already joined our study at St Michael's Hospital and the first results are already being returned. We look forward to expanding further across Bristol and SW England so that genomic newborn screening becomes part of our routine NHS care."
One of the first couples to join the Generation Study were Ferne Corrigan and Mark McClean, whose son Caelan has had a sample collected after being born. Ferne and Mark enrolled after a routine scan at St Michael's Hospital, part of the University Hospitals Bristol and Weston NHS Foundation Trust.
Ferne said: "Both my husband and I felt that contributing to the research was important. Once we realised that our baby's genome could be used to help others, we put our names down and very much wanted to be a part of that. We also factored in that the study was so non-invasive and that there wouldn't be much for me to do personally, while still potentially making a difference to people's lives in the future."
Dr Rebecca Maxwell, Chief Medical Officer at University Hospitals Bristol and Weston NHS Foundation Trust, said: "The Generation Study will be life-changing for many of the families in our care, offering earlier diagnoses of a wide range of rare conditions. Saint Michael's Hospital is a pioneering site for both fetal medicine and neonatal care, offering specialist services to people across the South West of England and South Wales, and I am proud that colleagues were the first to offer this revolutionary new test which will support the incredible work they are doing for all the children born here, including those with more complex needs.
"Families from across the South West of England, the South of England, South Wales and beyond, come to both St Michael's Hospital and Bristol Royal Hospital for Children for a wide range of conditions, many of them genetic, and this test will help us identify children who need treatment even sooner which could potentially support them to live more independent lives in the future."
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.
Polly Campbell, whose son Finley was diagnosed with the genetic condition haemophilia A at four months old while under the care of the Haemophilia Centre at Bristol Royal Hospital for Children, has welcomed the study.
Polly said: "We found out Finley had severe haemophilia A when he was 4 months old and we took him to have his tongue tie cut. His tongue just kept bleeding, and we were in and out of hospital for a few days. Initially we weren't too worried but as it kept bleeding we started panicking that something was wrong and Finley had to have multiple blood tests and procedures which was really traumatic for us all as he was so small. All of this could have been avoided if we'd known about Finley's condition earlier on.
"After a few days the hospital called to tell us the diagnosis and it was just such a shock for us all as we have no family history of it.
"The diagnosis and experience were upsetting and a real shock but we're also very aware that it could have been so much worse. We're lucky that we were close to the hospital, and we weren't finding out the news because he'd had a big accident or head injury which could have been so dangerous.
"I also had an incident a few weeks after he was diagnosed when I took him to a weighing hub. Before he was on medication, Finley would bruise very easily and would get quite dramatic bruising down his sides from being picked up. A health visitor pulled me aside to question it as they have a safeguarding policy. I completely understand why this is so important but it's very upsetting when someone thinks you've purposely harmed your baby.
"We're lucky that we knew about Finley's haemophilia and it was on his file but I do know of other families who haven't been so lucky and have had social services involved because of unexplained bruising before they received their child's diagnosis.
"I think this is why the generation study is so incredibly important as people will find out things quickly and safely and their children can instantly start being looked after and treated.
"Finley's diagnosis was very scary and traumatic, but things felt so much easier once we were under the care of the hospital nurses and doctors and knew who to contact when we needed help.
"Nothing can ever prepare you for receiving a worrying health diagnosis for your child but anything that can make the experience less traumatic is so important."
