Over 600 expectant parents that are due to have their babies at Sheffield’s Jessop Wing, have signed up to a world-leading study which aims to screen 100,000 babies for more than 200 rare genetic conditions.
Midwives who are part of Sheffield’s Teaching Hospitals NHS Foundation Trust maternity unit, hit the recruitment milestone after launching as a Generation study research site in December 2024.
This pioneering study is being led nationally by Genomics England in partnership with NHS England and is running at almost 50 NHS hospitals including Jessop Wing. This will enable hundreds of rare but treatable genetic conditions that appear in the first years of life to be spotted earlier through a newborn blood sample, usually taken from the umbilical cord at birth. This has all been made possible through a technology known as whole genome sequencing.
Diagnosing these conditions earlier can be life-changing, enabling early access to treatment, monitoring and the right support from the NHS – rather than waiting for symptoms to appear later in childhood.
After a member of the Jessop Wing research team confirm an expectant parent’s decision to take part in the study, a cord blood sample will be taken and sent for DNA extraction and sequencing – where, if a condition is detected, families and carers will provide further NHS testing to confirm the diagnosis.
Results will then be reviewed by NHS genomic scientists, with the aim of sharing if a condition is suspected with parents, and then they will also receive ongoing support from paediatric experts at specialist children’s hospitals.
Research Midwife at Jessop Wing and Principal Investigator for the Generation Study in Sheffield, Natalie Khoaz, said: “We are really proud of our midwives and the whole Jessop Wing Generation study team for reaching this recruitment milestone less than nine months after opening. The NHS 10-Year-Plan cites the Generation study as a key way to improve future health outcomes and by diagnosing any of the 200+ genetic conditions at the earliest opportunity, patients will have access to early treatment and support, improving outcomes and quality of life. Early diagnosis can also better support parents and carers in dealing with the impact of potentially life-altering diagnosis in children and better plan for their care. This is a simple, transformative programme which we urge all parents-to-be to consider.”
Expectant parents can register their interest by visiting the Generation Study website and selecting Sheffield. The Jessop Wing Generation Study Team can also be contacted for more information on 0114 226 8333 or via sth.generationstudy@nhs.net.
