Celebrating 1,000 samples for the Generation Study, taken by staff from Birmingham Women’s Hospital
More than 1,200 women under the care of Birmingham Women’s Hospital are helping to detect rare diseases by donating blood from their baby’s umbilical cord.
Midwives have taken the bumper amount of samples for the pioneering Generation Study, which tests newborn babies for over 200 rare genetic conditions.
Lucy Kidner, a Delivery Suit midwife, was on hand to extract the 1,000th blood cord sample.
She said: “We are so proud to be leading the way when it comes to not only recruitment, but also in taking samples.
“We were the first to recruit 1,000 women into the study, and now we’re the first to take the equivalent amount of samples . Supporting the research team is such a great thing to be able to do on such an incredibly important study.”
The Generation Study is being run by Genomics England in partnership with NHS Trusts across the country and plans to test 100,000 newborn babies
It aims to identify treatable rare conditions in babies earlier to allow for discovery research into new diagnostic testing and treatments and is done through whole genome sequencing on cord blood samples collected after birth.
So far, over 10,000 results have been returned to families nationally, with 43 suspected condition results being returned including cancer predispositions, hematology and metabolic conditions.
The team at Birmingham Women’s Hospital have recruited more than 1,500 women into the study.
Phern Adams, Lead Research Midwife and Generation Study Project Manager said: “ We’re incredibly proud to be involved in such a momentous study, and the amount of support we’ve seen colleagues and midwives has been brilliant.
“ We’ve seen a lot of enthusiasm from new parents, women and families who are happy to take part in the study and are really eager to take part in such an important piece of research.”
As the largest standalone maternity unit in the country, Birmingham Women's Hospital was one of the first wave launch sites.
There are 13 other NHS hospitals currently recruiting for the study across the UK, with over 15,000 samples having been collected from all the participating sites.
Thousands of children are born every year in the UK with a rare but treatable genetic condition, and Genomics England have curated a list of over 200 rare diseases where early and effective treatment, and in some cases even cure, is currently available.