New guidance published on standards of care for rare conditions
NICE publishes first quality standard to improve care for people with rare conditions
Genetic Alliance UK welcomes the publication of the NICE Quality Standard for Rare Diseases, ahead of Rare Disease Day on 28 February 2026
A Quality Standard for all rare conditions
The Quality Standard for Rare Diseases consists of a set of eight concise, evidence-informed statements covering key domains that matter most to people with rare conditions, including timely diagnosis, coordinated care, mental health support, and access to information and specialist expertise.
The 8 statements cover:
- Referral for investigation and treatment
- Undiagnosed conditions
- Information provision
- Shared decision making
- Named healthcare professional
- Holistic needs assessment
- Access to treatment
- Clinical research
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, such as epilepsy or transition from paediatric to adult care. This Quality Standard addresses the whole pathway of rare, in an inclusive way, bringing in both the undiagnosed community and those with a non-genetic diagnosis.
The NICE Quality Standards apply in England and Wales. Decisions on how they apply in Scotland and Northern Ireland are made by ministers in the Scottish government and Northern Ireland Executive. Genetic Alliance UK will be working with the community to push to see it adopted or adapted for the whole of the UK.
Improving care for people with rare conditions
As a tool for equity, the Quality Standard serves several important functions. For people with rare conditions and families, it provides clarity and empowerment – setting out the minimum standard of care they should expect and supporting informed conversations with healthcare professionals.
For clinicians and service leaders, it offers a consistent reference point to guide service design and quality improvement. At a system level, it introduces transparency and accountability, enabling progress to be monitored and variation to be identified and addressed.
The Quality Standards development demonstrates how person-led, collaborative approaches can translate lived experience into practical tools that support more equitable, consistent care for people living with rare conditions across the UK.
It is important that this Quality Standard is now used by clinicians and commissioners as a trusted resource when delivering care for people with rare conditions. We encourage you to share it with your clinicians networks and explore how it can be useful for different rare conditions.
A project led by the community
People affected by rare conditions often experience significant inequities in care, including delayed diagnosis and limited coordination across pathways. While the UK Rare Diseases Framework set an important strategic direction, there were no measurable, nationally recognised standards against which progress could be tracked or services held to account.
The NICE Rare Disease Quality Standard (QS) has been developed to address this gap.
The development of the Standard was led by a UK wide-steering group of those people with lived experience, support organisations, clinicians, researchers, and system partners including NICE and NHS England. The initiative was led by the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) with Sue Farrington, the Alliance’s Co-Chair, acting as project sponsor and Principle Consulting, the Secretariat for the Alliance, providing project support. The aim was to define a clear, shared minimum standard of care for what people with rare conditions should expect from the health system.
The statements were developed through a rigorous process with engagement from across the rare community. It included a scoping review, surveys, and a formal consensus workshop, before the draft statements were taken to a NICE committee for approval. The project marks the first time a NICE quality standard has been developed this way.
A product of the UK Rare Diseases Framework
This project was originally launched as an Independent Advisory Group under the UK Rare Disease Stakeholder Forum in 2022. The Forum is one of the governance bodies feeding into the delivery of the UK Rare Diseases Framework and provides a mechanism for supporting meaningful engagement and collaboration between members of the rare condition community.
The UK Rare Diseases Framework helped to facilitate a UK-wide dialogue between the rare condition community and key policy-makers to produce an output to improve care for people with rare conditions.
The current UK Rare Diseases Framework comes to an end in January 2026. Genetic Alliance UK, alongside partner organisations, is leading a nationwide programme of engagement events throughout 2026 to make the case for a new framework.
Whether you are living with a rare condition, working in healthcare, research, policy or industry, your perspective matters. We encourage you to sign up for updates and ways to get involved to make sure that forums continue to exist on a UK-wide level to facilitate projects like the Quality Standard.
We thank Sue Farrington and the Rare Autoimmune Rare Disease Alliance for providing information in this article. More details on the work they delivered to achieve this outcome can be found on the RAIRDA Quality Standard website.