Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims 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 which are usually taken from their umbilical cord shortly after birth.
The study will identify conditions such as Metachromatic leukodystrophy (MLD) 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. It aims to investigate the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatment is available.
Following consultation, the study is only analysing the genomes for the 200 plus selected conditions that can be treated in the NHS in early childhood. Currently, over 1,000 participants have consented to join the study.
Expectant parents at participating hospitals 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.
This will extend and improve hundreds of lives by providing earlier diagnoses and treatment. Currently, on average, it takes a rare disease patient 5.6 years to receive an accurate diagnosis, underlining the transformative impact that whole genome sequencing at birth can have.
