NHS genomics developments give hope to critically ill newborn babies and children but do not address urgent need for newborn screening for SMA

Yesterday, NHS England published its 5-year genomics strategy, Accelerating Genomics Medicine in the NHS. In conjunction with the release of the report, at the first ever NHS Genomics Conference, Amanda Pritchard (NHS England Chief Executive), announced a genetic testing service for severely ill babies and children.

This is a welcome development and represents an advance in genomics medicine that will help many children and babies who end up in intensive care. However, for children with SMA such a test would be too late as diagnosis and treatment prior to symptom onset (at which point irreparable damage has been done) is essential. Newborn screening is the fastest route to diagnosis for babies with SMA and is not currently available in the UK – The UK SMA Newborn Screening Alliance is calling on the UK NSC to expedite its review of newborn screening for SMA.