Investigation finds variant sharing is inconsistent, incomplete, and in some cases absent
Experts and families say this could be prolonging uncertainty and delaying treatment
Three out 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, reveals an investigation by The BMJ today.
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 around 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 region, including testing, diagnosis, treatment, and counselling. 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 optimising 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.
Three of the seven GLHs – South East (led by Guy’s and St Thomas’ NHS Foundation Trust), South West (North Bristol NHS Trust), and North East and Yorkshire (The Newcastle upon Tyne Hospitals NHS Foundation Trust) – said they were not routinely submitting variants to ClinVar.
Even among the four hubs routinely submitting variants to ClinVar, there are significant backlogs of variants unsubmitted, as well as inconsistencies and gaps in what is submitted.
Sophie Muir, whose son’s variant for a CACNA1C-related disorder wasn’t picked up through NHS testing, says: “ClinVar functions as a shared clinical evidence base for variant interpretation. Inconsistent submission practices create structural blind spots, selectively limiting the evidence available for rare disease diagnosis, variant reclassification and research.”
Jack Underwood, a forensic psychiatry registrar, agrees, saying “there is a loop that is broken by not submitting to ClinVar,” while Professor John Sayer, an expert in rare inherited kidney diseases, warns “patients ultimately are missing out because this isn’t happening.”
Staffing was the issue most cited by the GLHs as the reason for the delay in implementing routine submission to ClinVar. Some hubs blamed the time taken to develop policies, and technology and infrastructure issues. Those GLHs that had not yet implemented routine ClinVar submissions said they planned to do so this year.
Muir, who is also chair of the rare disease charity the Timothy Syndrome Alliance, points out that the GLHs are generating clinically interpreted data in a publicly funded system. “Public funds are going in to pay for genetic testing and then it’s not being shared. It’s not right,” she says.
Sayer agrees that variant sharing maximises the value of the public investment in genetic testing. “It’s privileged information, knowing someone’s genetics,” he says, “and if they’ve consented to that being used for the greater good then you’re betraying a patient’s trust by not allowing that information to be shared.”
Clare Turnbull, Professor of Cancer Genetics at the Institute of Cancer Research London, says the delay in variant sharing by GLHs is part of the wider issue of lagging NHS IT systems hobbling progress and innovation.
In the meantime, says Muir, the delay is causing harm to rare disease patients and families like hers. “We don’t have time on our side,” she says. “Our families, our children, our researchers and clinicians, our patient advocacy organisations and our life sciences need this data.”
07/10/2026
Notes for editors
Investigation: Rare diseases: NHS labs fail to share data vital for diagnosis and care, BMJ finds doi: 10.1136/bmj-2026-101004
Funding: BMJ Investigations Unit
Link to Academy of Medical Sciences press release labelling system: http://press.psprings.co.uk/
Externally peer reviewed? Yes
Evidence type: Investigation
Subject: Rare diseases
First published in 1840, The BMJ currently ranks among the world’s top five general medical research journals.
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