NHS Genomics Laboratories Fail to Share Critical Rare Disease Data
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, an investigation published by The BMJ revealed. The failure to submit variant data to repositories like ClinVar creates structural blind spots that prolong diagnostic uncertainty for patients suspected of having rare genetic conditions, according to patient advocates and clinical experts.
England operates seven NHS Genomics Laboratory Hubs (GLHs) to coordinate regional clinical genomics services, including testing, diagnosis, treatment, and counselling. Since 2024, these hubs have been required under Association for Clinical Genomic Science (ACGS) guidance to submit detected genetic variants to public databases. The guidance designates data sharing as a professional responsibility required to target treatments and optimize patient care.
Inconsistent Submissions Across Regional Hubs
Information obtained through freedom of information requests at the start of 2026 reveals that variant submission practices remain incomplete and inconsistent across the country. Three hubs confirmed they are not routinely submitting variants to ClinVar: the South East hub, led by Guy’s and St Thomas’ NHS Foundation Trust; the South West hub, led by North Bristol NHS Trust; and the North East and Yorkshire hub, led by The Newcastle upon Tyne Hospitals NHS Foundation Trust.
Even among the four hubs that maintain routine submissions, significant backlogs of unsubmitted variants persist alongside gaps in reported data. Laboratory directors attribute these operational delays primarily to staffing shortages, infrastructure challenges, and the time required to develop internal policies.
Impact on Patient Diagnosis and Clinical Research
Clinicians and family advocates warn that delayed data sharing directly harms patients seeking a diagnosis for rare conditions. Sophie Muir, chair of the rare disease charity Timothy Syndrome Alliance, whose son’s variant for a CACNA1C-related disorder was missed by NHS testing, states that inconsistent practices selectively limit the evidence available for variant reclassification and research. Jack Underwood, a forensic psychiatry registrar, notes that the clinical evidence loop is broken when laboratories withhold data from public repositories.
Professor John Sayer, an expert in rare inherited kidney diseases, emphasizes that patients ultimately miss out when genetic findings are not shared for the greater good of public health. Clare Turnbull, Professor of Cancer Genetics at the Institute of Cancer Research London, points to lagging NHS IT systems as a broader structural barrier hobbling innovation across the sector. The non-compliant GLHs have indicated that they intend to implement routine ClinVar submissions over the course of the year.
Frequently Asked Questions About NHS Variant Sharing
What is ClinVar and why is it important for rare disease diagnosis?
ClinVar is a freely accessible public archive that aggregates information about genomic variants and their relationship to human health. It functions as a shared clinical evidence base that allows clinicians and researchers worldwide to interpret genetic test results accurately and diagnose rare conditions.
Which NHS Genomics Laboratory Hubs are not routinely sharing data?
According to freedom of information responses from early 2026, the South East GLH, the South West GLH, and the North East and Yorkshire GLH are not routinely submitting variant data to ClinVar.
What reasons have the laboratories given for the reporting delays?
The Genomics Laboratory Hubs most frequently cited staffing shortages, technological infrastructure issues, and lengthy administrative timelines required to develop internal data-sharing policies as the primary causes for delayed submissions.
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