Ahead of Rare Disease Day (28
February), NICE has today published its 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.
Eric Power, interim director,
Centre for Guidelines at
NICE, said: “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.
“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.”
Sue Farrington, chair
of the Rare Autoimmune Rheumatic Disease
Alliance (RAIRDA) and CEO
of Scleroderma and Raynaud's
UK,
said: “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.
“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.
NICE encourages local services to use
the standard as a foundation for service design,
performance monitoring and quality improvement
initiatives.
Ends
-
The Rare Diseases quality
standard is available at: https://www.nice.org.uk/guidance/qs214
-
The development of the standard was
led by a UK wide-steering group of those with lived experience,
clinicians, and patient information
organisations, convened by the Rare Autoimmune
Rheumatic Disease Alliance
(RAIRDA).
-
NICE quality standards are concise,
evidence-based statements designed to drive measurable
improvements in health and social care-based statements
designed to drive measurable improvements in health and social
care.
-
For more information about the UK
Rare Diseases Framework and England Rare Diseases Action Plan
2025, visit: https://www.gov.uk/government/publications/uk-rare-diseases-framework
