Hull research team joins groundbreaking newborn genetic screening study
Project aims to identify rare treatable conditions using genome sequencing
A research team at Hull Royal Infirmary is contributing to one of the world’s leading genetic screening studies for newborn babies, known as the Generation Study.
Led by obstetrics and gynaecology consultant Dr Uma Rajesh, the Hull-based team joins over 40 NHS Trusts and organisations working on the initiative, which is led by Genomics England alongside NHS England.
The Generation Study is a pioneering research project aiming to screen 100,000 newborns for more than 200 rare genetic conditions through whole genome sequencing. Blood samples commonly taken from the umbilical cord shortly after birth are used to identify conditions such as spinal muscular atrophy and metachromatic leukodystrophy.
The intention of the study is to detect treatable conditions early and enable families to access appropriate support and monitoring, which could slow progression, improve quality of life, and even extend lives. By identifying these conditions at birth rather than when symptoms appear later in childhood, the study hopes to prevent longer-term health issues and reduce hospital stays.
Dr Uma Rajesh, principal investigator for the Generation Study in Hull, said: “Taking part in the Generation Study gives local people the chance to access potentially life-changing information about their baby’s health at a very early stage."
"Participation is entirely voluntary, but the study brings the potential to help some families identify issues and begin treatment much earlier in the baby’s life. For our research team, being given the opportunity to take part in such a high-profile and world-leading study is a real privilege."
If the genome sequencing identifies a treatable condition in a newborn, families will be offered further NHS testing to confirm a diagnosis, as well as treatment and support. Conditions detected may include osteogenesis imperfecta – with parents provided advice on safely handling newborns to avoid long-term damage to their bones.
Every year, thousands of children in the UK are born with treatable rare conditions, but testing generally occurs later when symptoms develop and disproportionately affects children under five.
The Generation Study is not intended to replace the existing NHS blood spot screening (heel prick test), which detects 910 rare conditions, but aims to expand screening possibilities to hundreds more treatable diseases using complete genome sequencing.
In addition to newborn care benefits, researchers hope the study will further medical understanding by exploring the potential of storing individual genomes to better predict, diagnose, and treat illnesses throughout a person’s lifetime.