Almost half of NHS genomics labs in England not routinely sharing variant data

A BMJ investigation found that three of England’s seven genomics laboratory hubs were not routinely submitting genetic variant information to ClinVar, a public database used to support diagnosis

Three of England’s seven NHS Genomics Laboratory Hubs were not routinely sharing genetic variant information with ClinVar – a public database used to help interpret genetic test results – according to a BMJ investigation. The findings raise concerns about delays and gaps in evidence for people with suspected rare genetic conditions.

Since 2024, Association for Clinical Genomic Science guidance has required the hubs to submit variants to public databases. Such information can help laboratories interpret whether a genetic change is linked to disease. Freedom of information responses collected at the start of 2026 showed that submissions were inconsistent, incomplete or absent. Three hubs, in the South East, South West, and North East and Yorkshire, said they did not routinely submit variants. The other four also had backlogs or gaps.

The hubs cited staffing needs, policy development and technology or infrastructure as barriers. Those without routine submissions said they planned to implement them during 2026. Families and specialists told the BMJ that missing information could prolong uncertainty and limit the evidence available for diagnosis and variant reclassification.

“ClinVar functions as a shared clinical evidence base for variant interpretation,” said Sophie Muir, whose son’s variant for a CACNA1C-related disorder was not identified through NHS testing. She said inconsistent submissions could leave gaps in the evidence used for rare-disease diagnosis and research.

The investigation also noted questions about how publicly funded genetic data are shared, subject to patient consent and appropriate safeguards. The report said that delays form part of wider concerns about NHS information technology. The hubs’ plans to improve submissions will need to be followed to determine whether coverage becomes more complete.

The Association for Clinical Genomic Science guidance describes prompt and accurate molecular diagnosis as important for targeting treatment and optimising care. It also calls data sharing a professional responsibility, provided it is carried out appropriately and responsibly. ClinVar submissions allow evidence from different laboratories to inform the interpretation of a variant, including when later research changes how a variant is classified.

Muir, who is chair of the Timothy Syndrome Alliance, said publicly-funded testing generates clinically interpreted information that could support other families. Professor John Sayer, an expert in inherited kidney disease, also warned that patients could miss out when information is not shared. Their concerns include the possibility that a variant is not recognised because another laboratory has not submitted relevant evidence.

The investigation found that the four hubs that did submit data routinely still had substantial backlogs and inconsistencies. Staffing was the most frequently cited obstacle, alongside policy development and information-technology infrastructure. Dr. Clare Turnbull, professor of cancer genetics at the Institute of Cancer Research, linked the issue to broader limitations in NHS information-technology systems.

ClinVar is one of several public resources used by clinical laboratories and researchers to compare evidence about genetic variants. The hubs coordinate genomic testing, diagnosis, treatment information and counselling for their regions. Without consistent submissions, evidence held by one laboratory may not be readily available to others assessing the same variant.

Muir said families affected by rare disease need timely access to data that may help clinicians interpret a result. Sayer argued that sharing appropriately consented information can extend the value of publicly funded testing. The investigation also reported that the hubs that had not yet made routine submissions intended to do so during 2026.

For further reading please visit: 10.1136/bmj-2026-101004