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Improving Care for People Living with Rare Diseases and the importance of a Multi-Stakeholder Approach

Across the UK, there are more than 3.5 million people living with rare and ultra-rare diseases, however, it is a population that is often overlooked. 

Despite the implementation of the 2013 UK Strategy for Rare Diseases, a 2020 survey of 1,000 patients and carers impacted by a rare disease, conducted by Genetic Alliance and supported by Alexion, found that over one third rated their overall experience of care as poor or very poor, and 64% believe that the system is unfair to people living with rare diseases. This should act as an important reminder that, as an industry, we are at a critical time in the UK to advise and support on better patient reforms as the various rare disease and health policies are being shaped. 

At the start of the year, we saw the publication of the UK Rare Disease Framework which outlines the crucial steps needed to be taken in order to achieve improvements to a patient’s quality of life. The framework outlines four priorities and for real change to happen, this truly needs to be a multi-stakeholder effort. Outlined below are the four priory areas which shape this Spotlight edition. 

Sean Richardson
1. Helping patients get a final diagnosis faster, including increased research into previously unrecognised conditions to identify new rare diseases and provide new diagnoses 

Accelerating diagnosis and referral for specialist treatment are seen as perhaps the most important factors to consider in the new Rare Disease Framework. According to the 2020 Genetic Alliance UK survey, more than half of patients diagnosed within the last five years had to wait over two years for their diagnosis, with 41% of patients waiting over five years. For those with a definitive diagnosis, 49% had previously been misdiagnosed at least once, with 32% having previously been misdiagnosed two or more times. 

Lauren Watson, who is the Rare Diseases Policy lead in the Genomics Science and Emerging Technologies team in the Department of Health and Social Care, delves into the diagnostic complexities in this area and some of the resources that could be deployed to reform the patient journey to diagnosis. You can read her article here. 

2. Increasing awareness of rare diseases among healthcare professionals. This includes increased awareness and use of genomic testing and digital tools to support quicker diagnosis and better patient care. 

Most clinicians do not have in-depth knowledge of specific rare diseases, of which there are around 7,000, often leading to delays in diagnosis or sometimes misdiagnosis. Furthermore, specialist rare disease clinicians are oftentimes also on a journey of learning about the disease and keeping abreast of the latest developments in drug discovery. This is one area that industry can play a significant role in advancing education and awareness of rare diseases overall, but also in regards to specific conditions. It is critical that this education starts early in the process, reaching student doctors, and continuing throughout a healthcare professionals’ career. Given the magnitude of diseases and the evolving landscape as we learn more about rare diseases, continuous education is vital.

Improving rare disease education for healthcare professionals is thus key to unlocking doors for patients – read more from Lucy McKay, CEO of UK-based charity Medics4RareDiseases, here.

3. Better coordination of care. 

The 2013 Rare Disease Strategy identified that the very nature of rare diseases makes personalised care essential, however, this doesn’t seem to be happening in practice. In fact, the 2020 survey revealed that a large majority of patients coordinate their own care and do not have a care plan. Patients with a rare condition can face a lifetime of complex disease management, interfering with their social and working schedules, so coordination is critical to improving their overall quality of life. 

As an experienced rare disease paediatric nurse at the Rare Disease Centre at St. Thomas’, Paula Sullivan shares her first-hand insights on the importance of open communication between the various HCPs involved in different areas of a patients’ care: click here. Shared knowledge of a patients’ rare disease and symptoms, particularly in the case of adolescents, can mean that they receive a better quality of care which is less fragmented as they reach adulthood. 

4. Improving access to specialist care, treatments and drugs

Patients with a rare disease are faced with unnecessary obstacles in terms of accessing experts and effective treatment. By virtue of these conditions being rare, the data that is available to support assessment of treatments is small, meaning that it is often difficult for industry and health bodies to come to a consensus on the value of innovative medicines. Sheela Upadhyaya, Rare Disease Commissioner and Evaluator of Technologies at NICE, discusses this here. Improvements are being made – with consensus that rare disease drugs should not be evaluated in the same way as other treatments are – and the industry needs to continue to work with patient advocates to highlight the burdens of rare conditions and drive conversation.

It is vital that the principles behind the Framework are carried through to the national action plans that are being developed as we speak. Ben Allcock, a Rare Diseases Policy Officer in the Genomics Science and Emerging Technologies team in the Department for Health and Social Care, outlines key considerations to avoid disparity of care between the four devolved nations: click here.

​It certainly feels like we are on the cusp of a new era for rare disease care in the UK, but much still needs to be done. Continued dialogue between stakeholders remains key to much-needed change – the more we work in collaboration, the quicker we can make a difference in the lives of people with rare diseases.

Sean Richardson, General Manager UK & Ireland for Alexion, AstraZeneca Rare Disease

To find out more about Alexion and to download the Reforming Rare Diseases report please click the buttons below: 

Date of preparation: August 2021
​Document number: UK/NP/0016

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