Trust takes part in world-leading research, with babies tested for over 200 genetic conditions

Trust takes part in world-leading research, with babies tested for over 200 genetic conditions

Imperial College Healthcare joins world-leading study in NHS hospitals, with first-ever newborns tested for more than 200 genetic conditions

Hundreds of babies have begun to be tested for more than 200 rare genetic conditions as part of a world-class study at NHS hospitals that aims to test up to 100,000 newborns in the UK.

Queen Charlotte & Chelsea Hospital is one of the first NHS facilities to open as part of the Generation Study, led by Genomics England in partnership with NHS England.
This pioneering research aims to identify genetic diseases such as metachromatic leukodystrophy (MLD) in infants sooner, allowing hundreds of people to benefit from earlier diagnosis and treatment. , may be able to slow the progression of the disease and improve or even extend lifespan.
In this generational study, newborns will be offered whole-genome sequencing using blood samples, usually taken from the umbilical cord shortly after birth. More than 500 blood samples have already been taken from newborns at 13 NHS hospitals across the country as part of the study, which will be expanded to around 40 hospitals.
Leanne Chapman, a clinical research midwife who is leading the research at the trust, said: “Rare genetic diseases can have a significant impact on families and whole genome sequencing provides clinical teams with treatment opportunities. “It has the potential to improve lives by providing opportunities for prevention in some cases.” , from worsening of the disease.
“We support families to provide a sample of their baby's umbilical cord blood at birth. This is safe and risk-free for both mother and baby and provides important information about current and subsequent health for research. It is possible.”
Sequencing identifies rare conditions that are treatable soon after birth, rather than when symptoms may appear later in childhood. This means families can receive appropriate support, monitoring and treatment from the NHS for these conditions at a much earlier stage.
This generational study will identify more than 200 conditions in asymptomatic infants that may not become symptomatic until late childhood. Early and effective intervention can prevent long-term health problems associated with certain diseases, keep children out of the hospital, and help them lead healthier lives. You will be able to do it.
Expectant parents will be informed about the study during their pregnancy and, if interested, a research midwife will discuss this in detail and decide whether to participate. Shortly after birth, NHS doctors, nurses and midwives will confirm with the parents that the baby is still happy to be tested and a blood sample will be taken and sent to the laboratory for whole genome sequencing. Masu.
Results are then reviewed by NHS genome scientists and are intended to be shared with parents within 28 days if symptoms are suspected, and within a few months if symptoms are suspected.
If genome sequencing identifies a newborn baby as having a treatable childhood disease, families and carers will undergo further NHS testing to confirm the diagnosis and will be provided with ongoing support and treatment from the NHS. Masu.
NHS teams will also provide advice to families on how to deal with a range of conditions, including osteogenesis imperfecta, one of the conditions, to help parents prevent long-term damage to their child's bones. You can also receive advice on how to handle newborns.
This research will support broader medical research to improve testing and discover more treatments, preserve an individual's genome for life, and use it to predict, diagnose and treat future diseases. We will explore possibilities.
For example, if a child whose genome has been sequenced grows up to become ill, the stored genetic information could be used for diagnosis or treatment.
NHS chief executive Amanda Pritchard said: 'Diagnosing rare diseases in newborns at the earliest opportunity through genomic testing has the potential to be truly life-changing for families. “There is a possibility that thousands of children will have the opportunity to receive appropriate treatment at medical institutions.” At the right time, we give them the best possible start in life and allow families to better plan for their care.
“The NHS is a world leader in genomics and this research shows the benefits of our partnership with Genomics England, allowing us to introduce cutting-edge technology to improve the lives of patients. If we can diagnose and treat children with the disease years in advance, we have the power to stop the disease's progression and help more children grow up, go to school, and live independently. This will be a game changer for patients and for the future of medicine.”
Thousands of children are born in the UK each year with treatable rare diseases, and genetic testing is usually carried out by the NHS Genomics Service when a child develops symptoms, particularly those affected. Children under the age of 5.
The NHS blood spot test (or heel prick test) is used to detect nine rare but serious health conditions in newborn babies. This generational study is not a replacement for regular screening, and the decisions parents make about their participation in the generational study are important. Study, their baby is still undergoing blood spot testing.
By screening a baby's entire genome, or all of their DNA, we hope to detect hundreds more treatable rare diseases in the first few years of life.
Dr Rich Scott, Chief Executive of Genomics England, said: “The launch of the Generation Study is extremely important as we seek to develop evidence about whether genomic newborn screening should be offered to all children – and whether we should be doing more for thousands of children. It's a pivotal moment.'' Every year in the UK, people are born with treatable genetic conditions.
“Children with these diseases often go years without being diagnosed. Reducing this time means they can receive potentially life-changing treatment sooner. This generation study also shows the impact of partnerships with the NHS, which will allow the UK to test genomic innovations that, if proven, can improve health and make healthcare increasingly prevent disease. This means we are in a unique position to help them transition.”
Health and Social Care Secretary Wes Streeting said: “To fix our broken NHS, we need to ensure that the future of healthcare is more predictive, more preventative and more personalized.” said. These kinds of advances in genomics can help accomplish just that. That means ensuring families across the country get the support and treatment their loved ones deserve.
“Too many parents have waited too long for critical answers about diagnosis. We are determined to use innovation to turn this around.”
Dame Sue Hill, Chief Scientific Officer and Senior Director of NHS Genomics, said: “By studying the potential of using whole genome sequencing from birth, we can learn whether we can transform the care of young patients by providing early treatment for rare genetic diseases.” , whether there are long-term benefits to having a whole genome sequenced from birth. This is another example of the importance of ensuring patients have access to the latest innovative research as part of their routine NHS care. ”
The Generation Study was developed after extensive consultation with medical professionals, policy makers and scientists, as well as the general public, parents and families affected by rare diseases.
Genomics England is owned by the Department of Health and Social Care.