Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps his Department is taking to support early (a) diagnosis and (b) treatment for people with (i) spinal muscular atrophy and (ii) other rare, genetic and neuromuscular conditions.

The 2021 UK Rare Diseases Framework includes priorities on ‘helping patients get a final diagnosis faster’ and ‘improving access to specialist care, treatment and drugs’. NHS England commissions a national network of specialist services offering an integrated clinical and investigative diagnostic and advisory service for patients with specified forms of rare inherited neuromuscular diseases. The network enables all patients with these disorders to access specialised diagnosis and advice on management and treatment. Genomic testing for spinal muscular atrophy (SMA) is currently offered in NHS England under the clinical indications R70, R71 and R311. Genomic testing is also available for a number of other rare, genetic neuromuscular conditions, the full list of which can be found in the National Genomic Test Directory. As with many National Health Service services, the COVID-19 pandemic has had an ongoing impact on the genomic testing pathway. NHS England is working to support recovery to reduce reporting times.

Evidence presented to the UK National Screening Committee (UK NSC) in June provided reasonable grounds for more formal exploration of a United Kingdom newborn screening programme for SMA. The health impacts of time to diagnosis will be considered as part of the UK NSC’s work on SMA.

NHS England is also developing a proposal for a pilot ‘syndromes without a name’ clinic, the aim of which will be to provide better opportunities for diagnosis and to shorten the time to diagnosis through multidisciplinary review and enhanced access to tests. Additionally, the Genomics England Newborn Genomes Programme has been allocated £105 million of Departmental funding to explore whether whole genome sequencing can diagnose rare diseases earlier and improve outcomes for newborns.