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. The strategy sets out the NHS’s plans to embed genomics across the NHS, building on the progress that has already been made through the 100,000 genomes project and the establishment of the NHS Genomics Medicine Service (GMS). The strategy covers several areas, including plans for genomic testing.

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.

For babies with SMA, 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 potential of newborn genomic testing is still several years away but the UK National Screening Committee is now embarking on a review of SMA with a view to adding it to the national newborn screening programme, which involves a simple heel-prick test.

The UK SMA Newborn Screening Alliance is calling on the UK NSC to expedite its review of newborn screening for SMA by making use of compelling existing evidence of clinical and cost effectiveness.

For every five days that a decision is delayed, a baby is denied the chance of a healthier future.