SMA Included in the First List of Conditions in Genomics England’s Generation Study
The UK SMA Newborn Screening Alliance was delighted to see SMA included in the initial list of over 200 rare conditions that will be included in Genomics England’s Generation Study.
The study, which aims to start in NHS hospitals in late 2023, aims to understand whether sequencing babies’ genes can help to discover rare genetic conditions earlier.
The study will look at the DNA of over 100,000 babies and gather evidence to consider whether whole genome sequencing can be rolled out as part of a future newborn screening programme.
Genomics England estimates that the study will identify suspected diagnoses for 500-1000 out of the 100,000 babies who will take part. However, the study is not an alternative to the current UK Newborn Screening Programme, which is administered via the heel prick test. The Generation Study’s purpose is to evaluate the feasibility of using genome sequencing to screen newborns for a larger number of childhood-onset rare genetic conditions in the NHS.
The Alliance shares the excitement about the potential of genome sequencing to identify conditions at birth, but as Genomics England acknowledges, it is the combination of genome sequencing and the current newborn heel prick test that has the greatest ability to detect more rare, treatable conditions at the earliest opportunity.
As such, whilst we are fully supportive of this study, it remains essential that the newborn screening heel prick test is used now to screen for conditions such as SMA.