A new report from Genetic Alliance UK reveals that the NHS is not adequately addressing the needs of the estimated 3.5 million people in the UK living with rare diseases. The findings, published ahead of Rare Diseases Day, highlight systemic inequities that patients face, including prolonged diagnostic journeys and fragmented care.
The report draws on insights from a survey of 290 individuals affected by rare conditions. It emphasizes that many patients undergo a complicated diagnostic process before receiving care, often navigating an “odyssey” that leaves them frustrated and without access to essential treatments. Those surveyed expressed the need for a healthcare system that allows them to manage their conditions with the same efficiency as those suffering from more common illnesses.
One of the report’s significant findings is the existence of a “winner-takes-all ecosystem” within the NHS. This phenomenon results in a concentration of resources, research funding, and specialist services for a limited number of rare conditions, while countless others remain underfunded and overlooked. Patients often endure long waits for a confirmed diagnosis, with a quarter reporting waits of over three years. Alarmingly, many individuals, including children, are diagnosed with a condition labeled as SWAN (Syndrome Without a Name), which highlights the gaps in our understanding of rare diseases.
Currently, only one in twenty rare conditions has an approved treatment. Additionally, just one in ten adult patients has a care plan, and a similar percentage has access to a dedicated care coordinator. This lack of support often places a heavy administrative burden on patients and their families.
Mehreen, a mother of a child diagnosed with median arcuate ligament syndrome (MALS), shared her experience, stating that care initiation was “slow to initiate” due to the specialized nature of the condition. She remarked on how the lengthy journey to diagnosis significantly affected her child’s well-being and their family’s emotional resilience.
Patients have also reported difficulties in finding information about available clinical trials. Healthcare professionals’ lack of awareness of active studies further complicates the situation, as many trials are conducted at specialist centers that may require travel, posing additional financial and logistical challenges for patients.
In response to these findings, Genetic Alliance UK has proposed five key recommendations. These include establishing a UK-wide registry for the over 7,000 rare conditions, correcting the funding imbalance between common and rare diseases, and embedding rare conditions into mainstream healthcare services. Systematic auditing is recommended to identify gaps in care and enforce consistent clinical standards.
The organization is also calling for a “bold successor” to the UK Rare Diseases Framework, which has recently been extended until 2027. This framework aims to accelerate diagnoses, enhance awareness among healthcare professionals, improve care coordination, and increase patient access to specialized care and treatments. The new framework must set clear targets and ensure adequate funding to address the structural inequities highlighted in the report.
In related news, the National Institute for Health and Care Excellence (NICE) has recently released a new Quality Standard for Rare Diseases. This document outlines eight principles aimed at improving care for rare conditions, including timely diagnosis, coordinated care, and access to mental health support. Genetic Alliance UK welcomed this initiative for its inclusive approach, addressing the entire pathway of care for those with rare diseases.
The findings and recommendations outlined in this report underscore the urgent need for systemic change within the NHS. With millions affected, ensuring equitable care for patients with rare diseases is not just a matter of policy; it is a pressing humanitarian concern that requires immediate attention.
