Genomics England Screens First Newborns for More Than 200 Genetic Conditions as New Study Begins

Rare Daily Staff

Genomics England has started to test hundreds of babies for more than 200 rare genetic conditions as part of a study in the country’s National Health Service hospitals that seeks to screen up to 100,000 newborns in England.

The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples that are usually taken from their umbilical cord shortly after birth. The NHS will continue screening all newborns with its heel prick test used to identify nine rare diseases.

The study will identify conditions genetic conditions in babies sooner and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of rare conditions and even extend their lives.

The study seeks to explore the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatments are available.

The study is only analyzing the genomes for the more than 200 selected conditions that can be treated in the NHS in early childhood. It has been developed following extensive consultation with the public, parents, and families affected by rare conditions, as well as healthcare professionals, policy makers and scientists.

More than 1,000 participants have consented to join the study.

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

“The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition,” said Rich Scott, CEO of Genomics England. “Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment.”

Photo: Rich Scott, CEO of Genomics England