UCLH has screened 2,000 babies for more than 200 rare genetic conditions as part of a world-leading research study.
Screening is taking place as part of the Generation Study, a ground-breaking national initiative led by Genomics England in partnership with NHS England. The study aims to offer 100,000 newborn babies in England whole genome sequencing using blood samples taken from their umbilical cord shortly after birth.
Testing, which is based on the analysis of a baby’s entire genome, looks for conditions including cystic fibrosis, sickle cell disease, haemophilia, and a wide range of other diseases. Identifying genetic conditions before symptoms even appear allows clinicians to begin life-changing early treatment, which may help reduce their symptoms, or stop them from becoming ill.
The UCLH team celebrated the milestone of involving 2000 babies in the study at an event in our Elizabeth Garrett Anderson Wing, home to gynaecology, maternity and neonatal care.
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.
What is it like to take part in the Generation study?
Expectant parents are informed about the study during pregnancy, and if interested a research midwife has 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, typically from the umbilical cord, 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 a couple of months 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.
Every year, thousands of children are born in the UK with a treatable genetic condition. Testing usually takes place via the NHS Genomic Medicine Service, but this can happen when the child has already developed symptoms.
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.
The Generation Study is separate from the NHS blood spot screening (the heel prick test) which is used to detect ten rare but serious health conditions in newborn babies. Whatever decision parents make about participation in the Generation Study, their baby still has the blood spot test.
