Newborn babies across Sussex are now eligible for testing for over 200 rare genetic conditions, thanks to a pioneering national research study taking place in NHS hospitals across England. The initiative, known as the Generation Study, aims to screen 100,000 newborns and could transform early diagnosis and treatment for hundreds of families.
Led by Genomics England in partnership with NHS England, the study offers whole genome sequencing using blood samples typically collected from the umbilical cord shortly after birth. This cutting-edge approach allows clinicians to detect rare but treatable conditions before symptoms appear – potentially improving outcomes, slowing disease progression, and even extending lives.
The Generation Study is currently available in 51 different hospitals in England, which includes Worthing, St Richard’s, Royal Sussex and Princess Royal hospitals in Sussex.
By identifying genetic conditions early, families can access tailored NHS support, monitoring, and treatment sooner. Early intervention can help prevent serious health complications, reduce hospital admissions, and support children in living healthier lives.
“This study is a game-changer,” says Emily Marler, a Senior Clinical Research Midwife at University Hospitals Sussex. “We’re giving families the chance to understand their baby’s health from day one. For some, it could mean avoiding years of uncertainty and getting the right care immediately.”
She adds: “As midwives, we’re often the first point of contact for new parents. Being able to offer this kind of insight and reassurance is incredibly powerful. It’s not just about science, it’s about giving families hope and options.”
How it works:
- Expectant parents will be informed about the study during pregnancy.
- If interested, they’ll meet with a research midwife to discuss participation.
- After birth, an NHS clinician will confirm consent and collect a blood sample for sequencing.
- Results are reviewed before being returned to parents.
- If a condition is suspected, families will receive further NHS testing to confirm the diagnosis, followed by ongoing care and support tailored to their child’s needs.
For more information, including registering your interest, please read the Generation Study website. You can also register your interest today: email our Maternity Research Team: [email protected].