The National Institute for Health and Care Excellence (NICE) has published its first-ever quality standard focused specifically on rare diseases. The new framework sets out clear expectations for improving the diagnosis, management and treatment of rare conditions across England and Wales.

This milestone standard is also the first NICE quality standard developed in partnership with an external organisation, bringing together specialist clinicians, patient organisations and individuals with lived experience through a dedicated Rare Disease Project Steering Group.

Why Rare Diseases Matter

A rare disease is defined as a condition that affects fewer than 1 in 2,000 people. While each individual condition is uncommon, rare diseases collectively affect millions of people and families across the UK.

Historically, patients with rare conditions have often experienced delayed diagnoses, fragmented care pathways and unequal access to specialist services. The new NICE quality standard aims to address these longstanding challenges by establishing clear, measurable expectations for health and care services.

The standard aligns with wider national policy objectives, including the UK Rare Diseases Framework and England’s Rare Diseases Action Plan 2025, both of which aim to improve patient outcomes and reduce variation in care.

Eight Priority Areas for Improvement

The quality standard outlines eight priority areas designed to strengthen care pathways for people with rare diseases. Key elements include:

Timely diagnosis and treatment

• Individuals referred to consultant-led services with suspected rare diseases should receive diagnostic investigations and their first definitive treatment within national maximum waiting time standards.

Recognition of undiagnosed conditions

• People whose symptoms remain unexplained after investigation should be recognised as a distinct patient groupand placed on a pathway for ongoing review and potential future diagnosis.

A named healthcare professional

• Each person with a rare disease should have a single named healthcare professional responsible for coordinating their care, ensuring clearer communication and continuity.

Equitable access to treatment

• Patients should be able to access recommended treatments regardless of geographic location or service variation, helping to reduce inequalities in care.

Access to clinical research

• Eligible individuals should be offered opportunities to participate in clinical trials and research studies, supporting innovation and improving future treatment options.

Alongside these improvements, the standard also aims to strengthen data collection, monitoring and performance measurement, helping services better understand patient pathways and outcomes.

A Major Step Forward for Rare Disease Care

Eric Power, Interim Director of the Centre for Guidelines at NICE, emphasised the significance of the new framework:

“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.”

Patient organisations have also welcomed the announcement.

Sue Farrington, Chair of the Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) and CEO of Scleroderma and Raynaud’s UK, described the standard as a transformative moment:

“For too long, people living with rare diseases have faced uncertainty, delays and unacceptable variation in the care they receive. This standard provides a clear, measurable framework for what good care should look like for rare disease patients across England and Wales.”

She added:

“It is about closing the gaps in care, improving accountability, and giving patients and families confidence that their needs will be recognised and met.”

What This Means for Healthcare Providers

For healthcare organisations, the new quality standard provides a clear framework for service design, pathway improvement and performance monitoring. Commissioners, integrated care systems and providers are encouraged to use the standard to strengthen diagnostic pathways, multidisciplinary coordination and patient access to research opportunities.

As rare disease care often involves multiple services and specialties, improving coordination and governance will be key to delivering the expectations set out by NICE.

How HLTH Compliance Can Support

At HLTH Compliance, we support healthcare providers across the UK to strengthen clinical governance, improve regulatory compliance and implement best-practice care frameworks.

The introduction of this new quality standard presents an opportunity for organisations to review their pathways, governance processes and quality assurance systems to ensure they are aligned with national expectations.

If your organisation would like support reviewing its clinical governance framework, service pathways or regulatory readiness, our team would be happy to help. We regularly work with providers to ensure services remain safe, effective, responsive and well-led while meeting the latest national standards and guidance.

You can contact our team to arrange a complimentary discussion about how these developments may affect your service.