A report released by Genetic Alliance UK has found that the NHS is not adequately addressing the needs of the approximately 3.5 million individuals living with rare diseases in the UK. The findings, published just before Rare Diseases Day on February 28, reveal significant disparities in care and treatment access for those affected by these conditions. The report suggests that patients endure a complex diagnostic process followed by fragmented care, leading to what the authors describe as “profound systemic inequity.”
The report is based on feedback from 290 patients participating in the Equity for Rare consultation. This initiative aims to identify strategies that will allow patients with rare diseases to navigate the healthcare system as effectively as those with more common conditions. Among the key findings is the assertion that the NHS has fostered a “winner-takes-all ecosystem,” where a select few rare diseases receive the majority of research funding, clinical trials, and specialist attention. In contrast, thousands of other rare conditions remain overlooked.
A notable concern highlighted in the report is the lengthy wait for diagnosis. Approximately a quarter of patients reported waiting at least three years from the onset of symptoms to receiving a confirmed diagnosis. Alarmingly, many individuals never identify their condition, leading to the phenomenon of children being born with a SWAN—an acronym for syndrome without a name. Furthermore, only 1 in 20 rare diseases currently has an approved treatment, and merely 10% of adult patients have a care plan in place. This lack of structured support places an additional burden on patients and their families.
Mehreen, a mother of a child diagnosed with median arcuate ligament syndrome (MALS), shared her challenging experience. She noted that care was “slow to initiate,” primarily due to the highly specialized nature of the condition. The lengthy journey to diagnosis significantly affected her child’s well-being and the emotional resilience of her family.
Patients also expressed frustration over the difficulty of accessing information about available clinical trials. Many healthcare professionals, they noted, are often unaware of ongoing studies, which tend to be located at specialized centers that may require travel—an added challenge for those who may struggle with mobility or costs.
In response to these findings, Genetic Alliance UK outlines five key recommendations in the report. The foremost suggestion is the creation of a UK-wide registry for the more than 7,000 recognized rare conditions. This registry would facilitate equitable healthcare delivery. The report also calls for a reassessment of the funding imbalance between common and rare diseases, reforms to integrate rare conditions into standard healthcare services, and systematic audits aimed at identifying gaps and enforcing clinical accountability standards.
Additionally, the report advocates for a “bold successor” to the UK Rare Diseases Framework, which has recently been extended until 2027. The framework aims to accelerate diagnoses, enhance awareness among healthcare professionals, improve care coordination, and increase patient access to specialized treatment and medications. The new framework must establish clear targets and ensure that adequate funding is allocated to address the structural drivers of inequity identified in the report.
As the report was released, the NICE (National Institute for Health and Care Excellence) also published a new Quality Standard for Rare Diseases. This standard outlines eight principles aimed at ensuring timely diagnosis, coordinated care, mental health support, and access to critical information and specialized expertise. Previously, existing standards have mainly applied to individual rare conditions or specific aspects of them. Genetic Alliance UK welcomed this new guidance for its comprehensive approach, which includes the undiagnosed community as well as those with non-genetic diagnoses.
The report underscores the urgent need for systemic changes within the NHS to better support those affected by rare diseases, ensuring that all patients receive the dignified and effective care they deserve.
