Bristol News

Bristol Hospital First To Launch Genetic Screening

St Michael’s Hospital is taking part in genetic screening for The Generation Study

A Bristol hospital is the first in the country to launch a screening process for 200 genetic conditions in newborn babies.

St Michael’s Hospital – part of University Hospitals Bristol and Weston NHS Foundation Trust – has introduced screening for The Generation Study, led by Genomics England. It is the first of 13 hospitals in the study to enroll patients and carry out testing.

The Generation Study, is working in partnership with NHS England to recruit 100,000 newborn babies for full genomic sequencing.

St Michael’s Hospital reception – The hospital on Southwell St in Bristol is where the Genetic Screening is taking place

Those involved in the study say that by detecting genetic conditions earlier, children can be supported sooner. This will help them to live healthier lives. Symptoms of the conditions which are being tested for will typically emerge during the first five years of a child’s life. The testing ultimately aims to support those children with healthcare a lot faster.

St Michael’s Hospital has so far recruited more than 160 people since 22 March 2024. The screening requires a blood sample which is usually taken from the umbilical cord after birth. More than 500 samples have been taken across the study with more hospitals to join in the future.

The medical professional involved will check following birth that parents are still happy for their baby to be tested. If they are, the sample is taken for laboratory testing for whole genome sequencing.

Each result is reviewed by NHS genomic scientists. If a condition is suspected, parents will be informed within 28 days. If no condition is suspected then the result will take slightly longer.

Babies identified with having a treatable condition will be provided with further testing, support and treatment.

Professor of Haematology for University Hospitals Bristol and Weston NHS Foundation Trust and Research Director for South West NHS Genomic Medicine Service Alliance, Professor Andrew Mumford said: “I’m proud to be leading a pioneering team at University Hospitals Bristol and Weston that were the first in England to enable local families to join the Generation study.

“More than 160 families have already joined our study at St Michael’s Hospital and the first results are already being returned. We look forward to expanding further across Bristol and SW England so that genomic newborn screening becomes part of our routine NHS care.”

Chief Medical Officer at University Hospitals Bristol and Weston NHS Foundation Trust, Dr Rebecca Maxwell called the study ‘life-changing’.

She said: “Saint Michael’s Hospital is a pioneering site for both fetal medicine and neonatal care, offering specialist services to people across the South West of England and South Wales, and I am proud that colleagues were the first to offer this revolutionary new test which will support the incredible work they are doing for all the children born here, including those with more complex needs.“

For more information about The Generation Study, visit the parents site: https://www.generationstudy.co.uk/

Or Genomics England: https://www.genomicsengland.co.uk/

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