Newborn babies will be screened for more than 200 rare, genetic conditions as West Hertfordshire Teaching Hospitals NHS Trust joins a pioneering study aiming to identify conditions in babies earlier.
The Generation Study, led by Genomics England in partnership with NHS England, offers newborn babies genomic sequencing using a small blood sample, usually taken from the umbilical cord shortly after birth.
Thousands of babies have been tested to date for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals, which aims to screen 100,000 newborns in England.
By taking part, parents could find out early about a possible genetic condition in their baby. Joining the study could also help future generations of children with genetic conditions get a healthier start to life.
Expectant parents are informed about the study during pregnancy and, if interested, a healthcare professional will have a detailed conversation with them to help decide whether they want to take part.
After birth, an NHS doctor, midwife or neonatal nurse will confirm with parents that they are happy for their baby to be tested. If consent has been given, a blood sample will be taken and sent to an external laboratory for whole genome sequencing. Parents will be contacted once the results have been reviewed.
If a newborn baby is identified as having a suspected condition through genome sequencing, families and carers will be offered further NHS testing to confirm a diagnosis, alongside ongoing support and treatment.
Dr Avinash Jinadatha, Principal Investigator leading the Generation Study, said:
“This is one of the largest studies West Hertfordshire Teaching Hospitals NHS Trust has taken part in, so it’s incredibly exciting to be involved in such a landmark project. It will play a vital role in improving outcomes for generations of children across our community. Early detection of treatable genetic conditions can make a real difference, helping children stay healthier and access the right care sooner.”
Rebekka Frick, Study Lead Research Midwife, said:
“We know that expecting a baby can be both an exciting time and one full of questions. The Generation Study gives parents the opportunity to benefit from earlier answers about their baby’s health than ever before. Our team is here to guide families through the process, answer questions, and support them every step of the way as they decide whether to take part.”
Find out more about the Generation Study or speak to your midwife about participating in the study.