Families offered newborn test for rare genetic conditions

Parents who are getting ready to welcome their baby into the world are being offered a test as part of a national study.

- by Ryan Smith

Families being offered maternity care at South Tyneside District Hospital and Sunderland Royal Hospital are being given the chance to take a test for more than 200 rare genetic conditions.

They are among more than 40 NHS hospitals so far which have agreed to take part in the Generation Study, which is being led by Genomics England in partnership with NHS England.

The world-leading research aims to screen 100,000 newborns across England, offering them whole genome sequencing using blood samples that are usually taken from their umbilical cord shortly after birth.

The study will identify rare conditions such as Metachromatic leukodystrophy (MLD), a rare inherited disorder which affects the brain, in babies sooner.

Research Midwife Lucy Rowland is part of the team at South Tyneside and Sunderland NHS Foundation Trust.