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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.

Despite good intentions, the labs say they lack the necessary staff and technology to do so and intend to implement this requirement as soon as possible.

But experts and families say that this failure can lead to prolonged uncertainty for patients suspected of having a rare genetic disease, as well as raising questions about the management and sharing of publicly generated patient data and knowledge in the NHS.

England has seven NHS Genomics Laboratory Hubs (GLHs) that coordinate clinical genomics services in their regions, including testing, diagnosis, treatment and counseling. Since 2024, they have been required to submit variants to public databases, such as ClinVar, under Association for Clinical Genomic Science (ACGS) guidance.

The guidance also sets out why these submissions are so vital: Prompt and accurate molecular diagnosis is crucial, it says, for targeting treatment and optimizing patient care. It is therefore "the professional responsibility of the clinical genomics community to ensure data is shared" appropriately and responsibly.

But information provided by the seven GLHs at the start of 2026—in response to freedom of information requests—indicates that variant sharing is inconsistent, incomplete and in some cases absent.

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