NICE publishes first quality standard to improve care for people with rare diseases
Ahead of Rare Disease Day on 28 February, we've published our first ever quality standard on rare diseases, and the first to have been developed in partnership with an external organisation.
Setting out clear expectations for improving the diagnosis, management and treatment of rare conditions across England and Wales, the quality standard outlines eight priority areas for improvement.
A rare disease is a condition that affects fewer than 1 in 2,000 people but collectively they impact millions of individuals and families. The new standard supports the ambitions of the UK Rare Diseases Framework and England’s Rare Diseases Action Plan 2025, aiming to reduce unwarranted variation in care and ensure people receive timely, person-centred support regardless of where they live.
Development of the quality standard was led by a Rare Disease Project Steering Group and included specialist input from expert clinicians, people with lived experience and patient organisations.
Key statements in the new quality standard include:
Timely diagnosis and treatment:
People referred to consultant led services because of concerns about a rare disease should receive diagnostic investigations and first definitive treatment within national maximum waiting times.Recognition of undiagnosed conditions:
Those with symptoms still unexplained after investigations should be recognised as a distinct group and placed on a pathway for ongoing review and potential future diagnosis.A named healthcare professional:
Each person should have a single point of contact responsible for coordinating their care.Equitable access to treatments:
Everyone should be able to access recommended treatments regardless of geography or service variation.Access to clinical research:
Eligible individuals should be offered opportunities to participate in clinical trials and research studies.
This quality standard will serve as a catalyst for better data collection and more consistent monitoring, helping to improve outcomes for people living with a rare disease.
Eric continues, "“People living with rare diseases often face long journeys to a diagnosis, fragmented care and limited access to specialist support. This quality standard sets out clear and achievable improvements that health and care services can make to deliver more timely, coordinated and equitable care for everyone affected."
For too long, people living with rare diseases have faced uncertainty, delays, and unacceptable variation in the care they receive. The launch of this quality standard is a watershed moment. For the first time, we have a clear, measurable framework that defines what good care should look like for every rare disease patient across England and Wales.
Sue adds, "“As a patient organisation leader and co-chair of RAIRDA, I have heard countless stories of people falling through the gaps. This standard is about closing those gaps—setting out the expectations, improving accountability, and giving patients and families confidence that their needs will be recognised and met. I believe it will drive real, lasting change for millions affected by rare conditions.”
The quality standard draws on established NICE guidelines, national policy and high-quality external evidence. It is designed to help providers, commissioners, and systems measure and improve the care delivered across pathways.
We encourage local services to use the standard as a foundation for service design, performance monitoring and quality improvement initiatives.