Bristol NHS Group helps 3,100 families access early genetic testing study

Maternity teams and research midwives across Bristol NHS Group have supported more than 3,100 babies and their families to take part in the Generation Study, a major national project aiming to detect rare but treatable genetic conditions at birth.

The study, delivered locally at St Michael’s Hospital, University Hospitals Bristol and Weston NHS Foundation Trust (UHBW) and Southmead Hospital, North Bristol NHS Trust (NBT), is part of a nationwide effort to sequence the genomes of 100,000 newborn babies. By analysing DNA shortly after birth, clinicians can test for over 200 rare conditions that may otherwise go undetected until symptoms develop later in childhood.

Early diagnosis is a key benefit of the programme. Identifying conditions soon after birth allows families to access specialist support, monitoring and treatment much sooner. This early intervention can help prevent serious long-term health complications, reduce hospital admissions and improve overall quality of life for affected children.

St Michael’s Hospital made history as the first site in England to recruit families and complete testing for the Generation Study, beginning in October 2024. The study is led locally by Dr Tracie Miles and Dr Caroline Platt at UHBW, alongside Dr Christy Burden at NBT.

The Generation Study is led by Genomics England in partnership with NHS England. It involves collecting a small blood sample from the umbilical cord shortly after birth for whole genome sequencing. Participation is entirely voluntary and so far, more than 40,000 women across the country have signed up to the study

Families interested in learning more or taking part can read more on the Generation Study website.