A recent report from Genetic Alliance UK highlights significant shortcomings in the National Health Service (NHS) regarding the care provided to individuals with rare diseases. This analysis, released just before Rare Diseases Day on March 1, 2024, indicates that the NHS is falling short of addressing the needs of the approximately 3.5 million people in the UK living with rare conditions.
The report reveals that many patients experience what it describes as “profound systemic inequity.” They often undergo a “complicated diagnostic odyssey” and face fragmented care with limited access to effective treatments. These findings are based on a survey of 290 individuals with rare diseases, conducted as part of the Equity for Rare consultation. This initiative aims to identify ways to ensure that patients can navigate the healthcare system with the same dignity and effectiveness as those with more common conditions.
Systemic Inequities and Diagnostic Delays
Among the report’s stark conclusions is the assertion that the NHS has established a “winner-takes-all ecosystem.” This structure prioritizes a few rare conditions that receive substantial research funding, clinical trials, and specialist centres, while many other conditions remain overlooked. Alarmingly, a quarter of patients reported waiting at least three years from the onset of symptoms to receiving a confirmed diagnosis. Some individuals never identify their condition, with thousands of children born each year classified as having a SWAN, or “syndrome without a name.”
The report also highlights that only one in 20 rare conditions has an approved treatment, and merely one in 10 adult patients has an established care plan. The burden of managing care often falls on patients and their families, as only a small fraction have access to a care coordinator who can assist with scheduling appointments and tracking test results.
Mehreen, a parent of a child diagnosed with median arcuate ligament syndrome (MALS), shared her experience, stating that care was “slow to initiate” due to the highly specialized nature of the condition. She explained, “The journey to diagnosis and specialist intervention was lengthy, and the lack of early recognition significantly impacted my child’s wellbeing and our family’s emotional resilience.”
Patients have expressed frustration over the difficulty in finding information about available clinical trials, compounded by healthcare professionals often lacking awareness of ongoing studies. Many trials are conducted at specialist centres, necessitating potentially unaffordable or unmanageable travel for patients.
Recommendations for Improvement
In response to these findings, Genetic Alliance UK has put forward five key recommendations in the report. A priority is the establishment of a UK-wide registry map for over 7,000 rare conditions, which would aid in planning equitable healthcare delivery. The report calls for a correction of what it terms an “imbalance” in research funding between common and rare diseases. It also advocates for reforms to integrate rare conditions into mainstream healthcare services and for systematic auditing to identify gaps, eliminate inequities, and enforce consistent clinical standards.
Finally, the report urges the development of 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 access to specialized care and treatments. The new initiative should set clear targets and ensure that funding adequately addresses the structural inequities identified in the report.
In conjunction with this report, NICE (National Institute for Health and Care Excellence) has released a new Quality Standard for Rare Diseases, outlining eight principles that encompass timely diagnosis, coordinated care, mental health support, and access to information and specialist expertise. Genetic Alliance UK welcomed this comprehensive approach, noting that it acknowledges the entire pathway for rare diseases, including those who remain undiagnosed or have a non-genetic diagnosis.
The challenges faced by patients with rare diseases underscore the urgent need for systemic changes in the NHS to ensure equitable, effective care for all individuals, regardless of the rarity of their condition.
