NHS labs fail to share data vital for diagnosis and care of rare diseases, investigation finds
A BMJ investigation finds that three of England's seven NHS Genomics Laboratory Hubs, those covering South East, South West, and North East and Yorkshire, are not routinely submitting genetic variants to public databases such as ClinVar, as required since 2024 under ACGS guidance. Even hubs that submit face significant backlogs. The labs cite staffing, technology and infrastructure gaps and say they plan routine submissions this year, while experts warn rare disease patients are missing out on diagnosis and care.
Why it matters: Non-sharing of NHS variant data limits rare disease diagnosis and public value of genomic testing.