Three of England’s Seven NHS Genetics Labs Not Sharing Patient Data in Public Databases

The BMJ’s investigation centres on what happens when a genetics laboratory identifies a genetic variant — a change in a person’s DNA that may or may not cause disease. Sharing that data in publicly accessible databases allows clinicians and researchers across the world to build a clearer picture of which variants are harmful, which are harmless, and which remain uncertain. Without that shared information, patients can wait far longer for answers — or never receive a clear diagnosis at all.

Three out of seven NHS genetics laboratories in England are not doing this routinely, according to The BMJ’s findings. That means the information gathered during patient testing is, in some cases, staying within individual labs rather than feeding into the collective knowledge base that rare disease diagnosis depends on.

For people living with a rare or undiagnosed condition, the stakes are real. Rare diseases — many of them genetic — are notoriously difficult to diagnose. The average patient can spend years seeing multiple specialists before getting an answer. Data sharing between labs is one of the tools that shortens that journey.

And it’s not a technical barrier. The databases exist. The infrastructure is there. The question raised by The BMJ’s investigation is why some NHS labs are not using it as standard practice.

The BMJ has not named which three laboratories are involved. No official response from NHS England or the laboratories themselves is included in the facts available at the time of publication.

Anyone concerned about a genetic condition or a rare disease diagnosis should speak to their GP in the first instance. NHS 111 can also advise on next steps or point people towards specialist services.