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University Hospitals Birmingham (UHB) is taking part in the Generation Study, a ground-breaking research study that will sequence the genomes of 100,000 newborn babies to test for over 200 rare genetic conditions.

The study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth.

Heartlands, Good Hope and Solihull hospitals are among the 13 hospitals across the country that are currently taking part in the study.

The genome sequencing identifies treatable, rare conditions shortly after a baby is born, rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.

The Generation Study will identify more than 200 conditions in otherwise asymptomatic babies, where symptoms might not present until later in childhood.

Early effective intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.

Expectant parents will be informed about the study during pregnancy, and if interested, a research midwife will have a detailed conversation with them to decide if they want to take part.

Shortly after birth, an NHS doctor, nurse, or midwife will confirm with parents that they are still happy for their baby to be tested and a blood sample will be taken and sent to a laboratory for whole genome sequencing.

Results are then reviewed by NHS genomic scientists, with the aim of sharing with parents within 28 days if a condition is suspected, or within a few months if no conditions are suspected.

If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.

Carla Jones-Charles, Director of Midwifery at UHB, said: “We are so pleased to be a part of this really important piece of work which will change the lives of so many children and young people. Some children would not have the opportunity for such early detection and treatment of these rare conditions without this research study.”

For further information on the Generation Study visit: https://www.generationstudy.co.uk/