Key Summary
- National Institute for Health and Care Excellence has launched its first quality standard for rare diseases to mark Rare Diseases Day (28 February).
- The standard sets clear expectations — faster diagnosis, a named care lead, fair treatment access and research opportunities.
- For patients long facing delays and variation, it creates a measurable framework for more consistent, patient-centred care across England and Wales.
The National Institute for Health and Care Excellence (NICE) has published its first-ever quality standard for patients with rare diseases, in connection with Rare Diseases Day on 28 February.
The historic standard was designed by a Rare Disease Project Steering Group, which involved various experts.
The five key statements in the new standard are:
- Timely diagnosis and treatment: The investigation and first definitive treatment should happen within the national maximum waiting times.
- Recognition of undiagnosed conditions: Those with unexplained symptoms after investigation must be grouped and studied in the further reviews to support future diagnosis.
- A named health professional: Every patient should have a single point of contact for their healthcare.
- Equitable access to treatments: Treatments must be guaranteed for every patient, irrespective of their backgrounds.
- Access to clinical research: Eligible patients must be allowed to take part in clinical trials and researches.
“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,” said Eric Power, interim director at Centre for guidelines at NICE.
Sue Farrington, chair of the Rare Autoimmune Rheumatic Diseases 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.”
“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,” she added.
Rare diseases are health concerns that affect less than 1 in 2,000 people, but have a massive impact on millions of individuals and families.
The new standard aims to ensure improved diagnosis, management and treatment of these conditions across England and Wales.
It supports the goals of the UK Rare Diseases Framework and England’s Rare Diseases Action Plan 2025, such as appropriate, timely and patient-centred care irrespective of the patients’ background.
It is also based on the existing NICE guidelines, national policy as well as high-quality external evidence to support the healthcare system.
NICE expects local services to start practicing the standard at the earliest for better health outcomes.
