Hospitals roll out gene testing for newborns in national study

UK hospitals have started testing newborns for more than 200 rare genetic conditions in what researchers call a landmark national study.

Forty-seven NHS hospitals, including Sunderland Royal Hospital, South Tyneside District Hospital and Newcastle’s Royal Victoria Infirmary, are taking part in the Generation Study.

The aim is to test 100,000 babies, with the study set to run until March 2027.

The screening covers conditions such as cystic fibrosis and rarer disorders like metachromatic leukodystrophy (MLD) – an inherited disease that damages the brain and causes progressive loss of movement and thinking skills.

Genomics England and NHS England are leading the project, which follows consultation with parents, families affected by rare conditions, healthcare professionals, policy makers and scientists.

Parents will be told about the study during pregnancy, with research midwives giving more detailed information to those who are interested. Blood samples are collected soon after birth, usually from the umbilical cord.

Lucy Rowland, research midwife at South Tyneside and Sunderland NHS Foundation Trust, said the team was “really excited” to take part.

“If a condition is suspected, the appropriate treatment can be started promptly as early intervention is key,” she said.

“It will be interesting to see this study develop.”

Rachel Nicholson, a consultant on the trust’s maternity team, stressed that taking part is voluntary.

“While we want as many people as possible to sign up to help build the biggest picture we can of genetic conditions, we want to stress there is no pressure to get involved.

“Everyone knows what is right for them and their family.”

The study marks a major expansion of newborn screening in the UK, which at present usually tests for around nine conditions.