Understanding rare diseases and how to support patients with them

Although rare diseases are individually rare, they are collectively common. There are over 7,000 known rare conditions and around 1 in 17 people in the UK will be affected by one at some point in their lives.

In this feature, Natalie Frankish, director of public affairs at Genetic Alliance UK, examines why people living with rare conditions continue to face systemic barriers to timely diagnosis and equitable care – and what the new NICE quality standard means for healthcare professionals on the frontline.

For many healthcare professionals, a rare condition may seem like a clinical anomaly encountered perhaps once in a career. In the high-pressure environment of a GP surgery or community pharmacy, a healthcare professional’s diagnostic ‘autopilot’ gravitates toward the common and the expected – best captured by the aphorism: when you hear hoofbeats, think horses, not zebras.

In the UK, 1 in 17 people will be affected by a rare condition at some point in their lives.¹ Therefore, a typical GP practice, serving a standard catchment area, is almost certainly supporting dozens of individuals living with rare conditions.

A report by Genetic Alliance UK, a group of more than 220 charities, found that the NHS is failing to deliver equitable care for people with rare conditions.³ Not through design or neglect, but because the fundamental challenges of rarity – low prioritisation, low clinical awareness, and low evidence base – remain unaddressed by our healthcare system.

What exactly is a rare condition?

A condition is clinically defined as rare if it affects fewer than 1 in 2,000 people. There are over 7,000 known rare conditions with new ones regularly identified.¹ For a person with a rare condition, the journey to a name for their symptoms is often described as a ‘diagnostic odyssey’, which typically includes experiencing uncertainty, misdiagnosis, and fragmented care.

Recent data paints a stark picture of this journey in the UK. One in four people waited at least three years for a confirmed diagnosis, and perhaps most significantly, for 95% of that waiting period, these individuals were already within the healthcare system, actively seeking help.^4,5

Even when a diagnosis is finally secured, the struggle to receive appropriate care may not end. Rare conditions are frequently lifelong and multi-systemic, requiring input from a diverse array of professionals, including specialist hospital consultants, nurses, physiotherapists, occupational therapists, and learning disability specialists.

The current NHS structure is often ill-equipped to manage such complexity. Despite the obvious need for a unified approach, only one in 10 adults currently has a formal care coordinator or a written care plan in place.⁶

The drivers of inequity in rare conditions

Respondents to Genetic Alliance UK’s 2025 ‘Equity for Rare’ consultation explained that true equity means ensuring those with rare conditions can navigate the healthcare system with the same dignity and efficacy as those with common conditions. However, three systemic barriers consistently block this path:

Low prioritisation

Because the prevalence of any single rare condition is by definition low, it struggles to meet the thresholds required to be categorised as a significant public health concern. In systems where resources and attention are allocated based on the breadth of impact, these conditions fail to demonstrate a burden that competes with more common conditions.

Consequently, rare conditions are often sidelined in policy discussions and strategic planning, because the individual impact, however severe, is diluted by the low number of affected individuals.

Limited evidence base

The small number of individuals affected by a rare condition creates an inherent barrier to the generation of robust data. Traditional methods of gathering evidence, such as large-scale clinical trials or comprehensive epidemiological studies, rely on significant participant numbers to achieve robust levels of evidence. In the absence of a large population, it is impossible to produce the same volume or depth of evidence that is standard for common conditions.

Low clinical familiarity

The rarity of these conditions ensures they remain outside the realm of public and professional familiarity. Without a critical mass of cases, there is no natural mechanism for a condition to enter the general consciousness of healthcare professionals or become a standard part of medical training and discourse.

This lack of exposure leads to a cycle of invisibility; because the condition is not well-known, it is less likely to be identified or discussed, ensuring it remains invisible to the clinical community and the healthcare systems they operate in.

While there is acceptance that it is not possible for healthcare professionals to know about every rare condition, people with rare conditions expect healthcare professionals to:

Be open to exploring rare conditions as a possible diagnosis
Acknowledge the limitations in their knowledge and understanding of rare conditions
Be willing to undertake research and training to better understand rare conditions
Facilitate speedy referrals to specialist services for diagnosis⁷

Increasing healthcare professionals’ knowledge and awareness of rare conditions is essential to improving both the time taken to receive an accurate diagnosis and to ensure a satisfactory

experience of diagnosis. Improving access to reliable information and training materials for healthcare professionals will help to achieve this.

The UK rare diseases framework and NICE quality standard for rare diseases

Recognising the inherent challenges faced by people living with rare conditions and the healthcare professionals supporting them, the UK rare diseases framework was published in 2021.¹

The framework focused on four key priorities: faster diagnosis, increased professional awareness, better coordination of care, and improved access to specialist treatment. A key component of this framework has been the recognition that healthcare professionals require significantly better resources to manage people affected by rare conditions effectively.

A major milestone has been the development of the National Institute for Health and Care Excellence (NICE) rare disease quality standard, published in February 2026. Driven by the work of the Rare Autoimmune Rheumatic Disease Alliance and its chief executive Sue Farrington, this is the first time a NICE standard has been developed through a person-led, collaborative approach.

The eight quality statements provide a clear roadmap for improvement, covering:

Referral for investigation and treatment
Undiagnosed conditions
Information provision
Shared decision making
Named healthcare professional
Holistic needs assessment
Access to treatment
Clinical research

Healthcare professionals are essential drivers of a more equitable system for rare conditions. Deepening clinical understanding does not require detailed knowledge of all 7,000 rare conditions; rather, it requires adopting a mindset that is more open to considering rare conditions. This involves recognising when a person’s journey is not following a typical trajectory and being proactive in coordinating care across different specialities.

The successful adoption of the NICE quality statements represents a transition toward a truly person-centred healthcare model for people with rare conditions. If implemented properly, it offers a vision of a future where every individual, regardless of the rarity of their condition, may be able to receive care that is coordinated, compassionate, and, above all, equitable.

Professional resources and further learning

To further explore how to support patients with rare conditions, professionals are encouraged to engage with the following organisations:

Genetic Alliance UK: An alliance of over 220 charities working to improve the lives of those with genetic and undiagnosed conditions.
Medics for Rare Diseases (M4RD): Advocates for integrating rare disease education into medical training and provides the Rare Disease 101 training programme.
NICE Quality Standard [QS214]: This quality standard covers diagnosing, managing and treating rare diseases in children, young people and adults. It describes high-quality care in priority areas for improvement.

Natalie Frankish is the director of public affairs at Genetic Alliance UK.