Tools and resources
Strategic principles for rare diseases
1.7 Definition
A rare disease, as defined by Orphanet, is a condition that affects less than 1 in 2,000 people, and NICE considers diseases that affect less than 1 in 50,000 people to be ultra rare.
1.8 Background
Rare diseases are often severe, usually life limiting and often occur in the paediatric population where the impact of effective treatments on the individual and their family are profound. The Department of Health and Social Care's UK Rare Diseases Framework estimates that there are over 7,000 rare diseases, 80% of which have an identified genetic origin. One in 17 people in the UK are affected by a rare disease at some point in their lives, which amounts to over 3.5 million individuals. People with rare diseases can be at risk of becoming unsupported in the healthcare system. Populations are small and geographically dispersed, and so the impact of national work can be underestimated. This, coupled with the lack of evidence on disease course and effective treatments, means that guidance on rare diseases may be overlooked. It is therefore important to ensure that these patients are afforded an equitable focus. The highly specialised technologies programme provides guidance for ultra-rare diseases with the aim of encouraging research and development while securing fairer and more equitable access to treatment in this area of high unmet need.
1.9 Principles
The following strategic principles outline NICE's approach to developing guidance relating to rare diseases and will inform decision making by NICE's prioritisation board:
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We aim to create an attractive environment that stimulates innovation for global researchers, developers and pharmaceutical companies to find and develop innovative and cost-effective treatments for severely life limiting or debilitating rare diseases with few or no treatment options currently available. We will do this by considering whether a condition significantly shortens life or severely impairs its quality, how rare it is and the availability of existing treatments before evaluating topics and new technologies for cost effectiveness.
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With the exception of health technology evaluations, where NICE's responsibilities are clearly defined, we will not routinely produce guidelines that relate to single rare diseases. Instead, we will seek to identify commonalities between conditions that enable us to provide products that can be applied across multiple rare disease groups.
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We will proactively collaborate with rare disease stakeholders, ensuring we communicate with patients and experts across multiple organisations to inform a shared understanding of NICE methods and processes in both clinical guidelines and technology appraisals. We will also ensure alignment with the UK Rare Diseases Framework and work with stakeholders to increase the evidence base relating to rare diseases.
ISBN: 978-1-4731-6154-2
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