Liverpool Women’s University Hospital reach major milestone in groundbreaking study

Led by Genomics England with NHS England, the study offers newborn testing to screen for over 200 rare genetic conditions, often identifying them long before symptoms appear.

Early diagnosis allows treatment to begin sooner, reducing long‑term risks and giving babies the best possible start.

Since joining the study in 2023, LWH and partner hospitals have helped to identify a range of conditions, including neurological, gastroenterological and endocrine conditions. The study also screens for serious rare disorders such as Spinal Muscular Atrophy (SMA), where early detection enables babies to access life‑changing therapies much sooner.

Among the people taking part in the Generation Study is Sally Bell, a nurse from Liverpool, who welcomed her daughter Nellie in November 2024.

Sally said the months leading up to the birth were filled with the usual mix of excitement and apprehension, but the support she received from both the maternity and research teams at LWH helped her feel informed and reassured.

Sally said:

“Throughout my pregnancy and delivery, I felt extremely well supported. The research team made sure I felt informed, listened to and confident in the decisions I was making for my family.”

Sally first learned about the study during her routine maternity care appointments. Although she was already familiar with the value of research through her work as a nurse, she said being a participant provided new insight and comfort.

She continued:

“The opportunity to test for over 200 genetic conditions felt hugely beneficial. Like any parent, I was naturally anxious about my baby’s health. Taking part felt like a proactive step that could offer reassurance and give Nellie the best possible start.

“All the staff involved in my care were aware of the study. Communication was seamless, it felt like a well‑established part of routine practice.”

Once a parent has agreed to take part in the study, a blood sample is taken shortly after the birth, usually from the umbilical cord, and this is used to analyse the baby’s DNA.

Dr Natalie Canham, Consultant in Clinical Genetics at Liverpool Women’s University Hospital, said:

“Reaching over 1,000 participants in the Generation Study is a fantastic achievement and reflects the incredible teamwork and strong relationships we’ve built with families across Merseyside.

“As clinicians, we understand that pregnancy can be an uncertain time, and we are truly grateful to the families who have chosen to take part. The commitment from healthcare professionals and families here in Liverpool has been outstanding.

“Every family involved is helping to shape a future where rare genetic conditions can be identified and treated much earlier, transforming lives for generations to come. I’m also particularly proud of how successfully we’ve been able to involve a wonderfully diverse range of participants, representing multiple ethnicities across our community. This inclusivity strengthens the study and ensures its impact benefits everyone.”

Amy Mahdi, Research Midwife at Liverpool Women’s University Hospital, said:

“Our teams work hand in hand with parents every step of the way, answering questions, offering reassurance and making sure they feel fully supported throughout the process.

“Taking part in the Generation Study is a big decision, and we want families to feel confident and cared for. Their trust means we can create one of the world’s most valuable newborn genomic databases, paving the way for earlier diagnoses and more personalised care for children in the future.”

Sally and her family hope their experience will encourage others to consider taking part.

She said:

“The process is straightforward and well supported, with absolutely no pressure.

“You’re guided every step of the way, and knowing your participation could help your own baby and others makes it incredibly meaningful.”

The Generation Study is currently open to all families receiving antenatal and maternity care at Liverpool Women’s University Hospital.