News / Health
Hundreds of families join study that could detect genetic conditions at birth
More than 800 families have joined a research study testing for rare genetic conditions in newborn babies at University Hospitals Bristol and Weston NHS Foundation Trust (UHBW).
Launched in October 2024 at St Michael’s Hospital, which is run by UHBW, it was the first site in England to recruit families and complete testing for the Generation Study.
The study is a major national research initiative led by Genomics England in partnership with NHS England (NHSE) which aims to sequence the genomes of 100,000 newborn babies using cutting-edge whole genome sequencing technology.
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The initiative aims to detect more than 200 rare genetic conditions early in a child’s life, providing families with answers sooner and giving newborns the best possible chance at timely, potentially life-saving treatment.
This is achieved through a process of collecting a blood sample from the baby’s umbilical cord at birth, which is then used to analyse the baby’s full genetic makeup.
To date the Trust has recruited more than 800 mothers and successfully taken over 500 whole genome sequencing tests.
Professor Andrew Mumford, professor of Haematology for UHBW and research director for South West NHS Genomic Medicine Service Alliance, said: “In a significant milestone, we’re very proud to be not only the first site in England to enrol a family onto the research study, but also the first site to complete testing.
“With high levels of interest and strong recruitment rates, UHBW’s contribution has been instrumental in advancing the national vision of transforming healthcare through genomics.”
Tracie Miles, co-investigator for the Generation Study at UHBW, said: “Early and effective intervention plays a vital role in preventing long-term health complications linked to certain rare conditions.
“We are proud to be part of this important initiative, which is helping families receive the right support, monitoring and treatment for their babies at the earliest possible stage.”
How does it work?
The Generation Study is a free and optional study.
Blood samples, usually taken from the umbilical cord shortly after birth, are used to decode each baby’s DNA.
The study will also explore the long-term risks and benefits of storing a person’s genome for future healthcare use and research.
It is supported by the world-leading NHS Genomic Medicine Service, delivering genomic testing for cancer and rare disease across the UK.
You can learn more about the study on the Genomics England website.
Main photo: University Hospitals Bristol and Weston NHS Foundation Trust
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