NHS labs fail to share data vital for diagnosis and care of rare diseases, investigation finds
Three of England's seven NHS genetics laboratories are failing to routinely share vital information about genetic variants in public databases that helps patients with rare diseases access diagnosis and care, an investigation by The BMJ reveals.
Three out of seven NHS genetics laboratories in England are not regularly sharing genetic variant information with public databases, according to an investigation by The BMJ. This lack of data submission, required since 2024, hinders patients' access to diagnosis and care for rare diseases. The three labs failing to routinely share this information are located in the South East, South West, and North East and Yorkshire regions.
Despite good intentions, these labs cite staffing shortages and technological limitations as reasons for the delay in implementing the requirement. Experts argue that this failure can lead to prolonged uncertainty for patients and raises concerns about the management and sharing of patient data in the NHS.
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