More than 5,000 expectant parents across the North East and Yorkshire (NEY) region have signed up to a potentially life-changing genetic research study that aims to improve the early detection of rare genetic conditions in newborn babies.
Families are being recruited through nine NHS Trusts across the region, including Sheffield, Leeds, Newcastle, Bradford, Harrogate, South Tyneside and Sunderland, with Hull, South Tees and North Tees recently joining the Generation Study. Together, these Trusts are supporting delivery of one of the largest newborn screening studies ever undertaken in England.
The Generation Study is led nationally by Genomics England in partnership with NHS England. It aims to screen 100,000 newborn babies using whole genome sequencing, a technology that analyses a baby's DNA to look for genetic changes linked to more than 200 rare but serious genetic conditions. Many of these conditions can be treated or managed more effectively if identified before symptoms appear.
Angela Lightfoot, NEY regional results coordinator, said:
"The exceptional level of recruitment to the Generation Study across the North East and Yorkshire, made possible by the tireless work of our research teams and the support of local NHS clinicians, is already making a real difference - helping us give babies the very best start in life."
Around 99% of babies taking part in the study will not be found to have any of the genetic changes being tested for. However, for the small number of babies who are identified as having a rare genetic condition, an early diagnosis can be life changing. Early identification with confirmatory testing within the NHS allows for babies to begin treatment sooner and receive tailored support for their families.
Natalie Khoaz, research midwife and Jessop Wing Generation Study principal investigator, said:
"It's been a real privilege to work with families at the Jessop Wing. We are proud of our contribution to recruiting over 5000 families across the region which has been achieved through the dedication of our amazing midwives and the dedicated research team. We are incredibly grateful to every parent who chooses to take part. Their generosity will help shape a healthier future for generations to come."
Participation in the Generation Study is open to expectant parents and families giving birth at any of the recruitment sites, subject to eligibility criteria. Parents receive clear information about the study, including sample collection, data handling and potential implications for their child and wider family if a genetic condition is identified. Informed consent is confirmed by a research team member before sampling. The study involves collecting a small newborn blood sample, usually from the umbilical cord shortly after birth.
Jess Towning, mum to baby Arthur, who joined the study in Leeds, said:
"This is a fabulous study and it's an easy test that gives big results. The fact that conditions get picked up sooner means you get treatment more quickly, leading to better outcomes, so knowledge is power.
"The more people who take part, the more likely it will become standard care."
Working with families and NHS Trusts across the region, the Generation Study is shaping the future of newborn screening and rare disease diagnosis in England. Referenced in the NHS 10-Year Health Plan, it supports earlier diagnosis and builds evidence for the future potential of universal newborn screening using whole genome sequencing.
Expectant parents can register their interest in the study by visiting the Generation Study website.
