NHS "isn't delivering equitable care for rare diseases"
A report from Genetic Alliance UK has claimed that the NHS is failing to meet the needs of many of the 3.5 million people in the country who live with a rare disease.
Released ahead of tomorrow's Rare Diseases Day, the report (PDF) says that people affected by rare conditions face "profound systemic inequity, often experiencing a complicated diagnostic odyssey followed by fragmented care and limited access to treatments."
That assessment stems from 290 people living with a rare disease in the UK who were polled as part of Genetic Alliance UK's Equity for Rare consultation, which is looking for ways to ensure that these patients "can navigate the healthcare system with the same dignity and efficacy as those with common conditions."
Among the conclusions are that the NHS has created a "winner-takes-all ecosystem," where a few rare conditions attract research funding, clinical trials, and specialist centres, while thousands of others remain in obscurity.
Meanwhile, a quarter of patients have to wait at least three years between the first symptoms showing and receiving a confirmed diagnosis, while many never identify their condition and thousands of children are born every year with a SWAN – standing for syndrome without a name.
Only one in 20 rare conditions has an approved treatment or medicine, and just one in 10 adult patients has a care plan in place, with a similar proportion having access to a care coordinator who can help with things like chasing test results and organising medical appointments, pushing the administrative burden onto the patient or their family.
Mehreen, the mother of a child with median arcuate ligament syndrome (MALS), said her experience was that care had been "slow to initiate, largely due to the highly specialised and rare nature of the condition," adding: "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."
The respondents also said that information on available clinical trials is difficult to find, exacerbated by healthcare professionals often being unaware of active studies and that they are often run at specialist centres, requiring travel that patients may be unable to afford or manage.
Genetics Alliance UK makes five key recommendations in the report, headed by the need for a UK-wide registry map for all of the 7,00-plus rare conditions that can be used to plan equitable healthcare delivery.
There needs to be a correction in what the group calls an "imbalance" between research funding for common and rare diseases, as well as reforms to embed rare conditions into mainstream healthcare service provision and systematic auditing to identify gaps, eliminate inequities, and enforce consistent standards of clinical accountability.
Finally, it calls for a "bold successor" to the UK Rare Diseases Framework, recently extended until 2027, which has the objectives of accelerating diagnoses, raising awareness among healthcare professionals, improving the coordination of care, and increasing access to specialist care, treatment and drugs.
Its replacement must "set clear targets, and the nations must respond with adequate funding, directly addressing the structural drivers of inequity identified in this report."
New NICE guidance released
The study emerged before health technology assessment (HTA) NICE's publication today of a new Quality Standard for Rare Diseases, consisting of a set of eight principles for rare conditions, including timely diagnosis, coordinated care, mental health support, and access to information and specialist expertise.
Previously, only a handful of Quality Standards have been applicable to either a relatively prevalent single rare condition, or an aspect of a rare condition, and Genetic Alliance UK said it welcomed the new document for addressing "the whole pathway of rare, in an inclusive way, bringing in both the undiagnosed community and those with a non-genetic diagnosis."
