Royal Cornwall Hospitals NHS Trust supports groundbreaking genomic screening for newborns

Royal Cornwall Hospitals NHS Trust is part of a pioneering national initiative that could transform the future of healthcare for thousands of families. Led by Genomics England in partnership with NHS England, The Generation Study is offering whole genome sequencing to newborn babies in hospitals across the country.

This world-leading study aims to screen up to 100,000 newborns for more than 200 rare but treatable genetic conditions, enabling earlier diagnosis and intervention that could significantly improve or even extend lives. Traditionally, genetic testing occurs only after symptoms appear, often years later. By identifying conditions at birth, families can access the right support and treatment much sooner.

Around 3,600 babies are born at the trust each year, and the research team aims to enroll at least 550 babies over the next 13 months. The study will be led by Ruth Bowen and supported by a dedicated research midwife.

Expectant parents are informed about the study during pregnancy. With consent, a cord blood sample is taken shortly after birth and sent for whole genome sequencing. The results are reviewed by NHS genomic scientists, with findings shared with parents within weeks.

Conditions such as metachromatic leukodystrophy, which can be life-limiting if untreated, are among those included. Early intervention could prevent long-term complications, keep children out of hospital, and help them live healthier lives.