Newborn babies tested for over 200 genetic conditions in world-leading study at UCLH

UCLH is one of 13 NHS hospitals running a world-leading study in which hundreds of babies will be tested for over 200 rare genetic conditions. The pioneering study aims to screen up to 100,000 newborns in England.

The Generation Study could enable hundreds to benefit from earlier diagnosis and treatment. It will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth.

The UCLH Principal Investigator is Dr Julia Zöllner. The study is supported by the National Institute for Health and Care Research UCLH Biomedical Research Centre.

Expectant parents will be informed about the study during pregnancy, and if interested a research midwife will have a detailed conversation with them so they can decide if they want to take part.

For those who take part, results from sequencing will be 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.

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.

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.