The Generation Study is looking at the effectiveness of using whole genome sequencing – where DNA is read like a barcode – to find and treat 200 rare genetic conditions.
The aim is to enable babies to benefit from earlier diagnosis and treatment that could help slow the progression of a potential disease and improve or even extend their lives.
The Rosie Hospital, part of Cambridge University Hospitals, was one of the first NHS trusts to be involved in the ground-breaking study. Led by Genomics England, in partnership with the NHS, the study will screen up to 100,000 newborns in England.
Consultant in obstetrics and feto-maternal medicine at CUH, Katarzyna Gajewska-Knapik, said: “Thousands of children are born every year with a rare condition that could be detected using whole genome sequencing. For many of these illnesses, early and effective treatment is crucial for helping children live healthier lives.”
The Generation Study will see newborn babies offered whole genome sequencing using blood samples which are usually taken from the 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.
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.
Suzannah Twiss, research midwife at CUH said: “It’s reassuring for parents to know if a condition is suspected, they will be offered specialist care from one of the NHS specialists in that condition, so that it can hopefully be treated before symptoms even appear.”
Expectant parents will be informed about the study, 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.
Laura from Cambridge was one of the first to sign up to the Generation Study, ahead of the birth of her daughter Cassie.
Laura said: “It’s exciting to take part in this important research. A few weeks after Cassie was born, we got the results and found that she was not suspected of having any of the 200 conditions. The sample was taken at the moment of birth, from the umbilical cord, so it was easy to take part in the study.”
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 babies, including sickle cell disease and cystic fibrosis – 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.
Sarah Everitt’s 10-year-old son Owen has a rare genetic condition called Resistance to Thyroid alpha. She said: “We faced years of uncertainty before finally receiving a diagnosis when Owen was 4 – so we know how much getting a diagnosis at the earliest opportunity could be life-changing for families.”
She added: “We are so grateful to Professor Krishna Chatterjee and the expert team at CUH, Institute of Metabolic Science and NIHR Cambridge Clinical Research Facility for ending our diagnostic odyssey and for the treatment Owen has received since. It has benefitted Owen enormously – he is now walking and talking and doing so well at school – things we never dreamed would be possible.”
Owen’s family are now supporting the planned Cambridge Children’s Hospital, the first specialist children’s hospital to bring genomic research, physical health and mental health together, under one roof. More information on Owen’s story and the treatment he received can be found here.
As part of the Generation Study, 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.
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.
More information about the Generation Study and how to take part can be found here.
Image: Owen Everitt with parents Sarah and Rob
